Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing

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Abstract The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women’s reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18–40 years who had predictive BRCA1/2 testing, received either a positive or negative result, and had no personal cancer history completed an online survey that used a case-control design. Outcome measures included childbearing, relationship status, and sexual functioning. 579 women participated (62.0% with a BRCA1/2 PV; 38.0% without a BRCA1/2 PV). More women with a BRCA1/2 PV had children compared to those who did not (49.0% c.f. , 40.5%; p = 0.045). BRCA1/2 status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient − 0.08; 95% CI -1.15, 0.98). Women with a BRCA1/2 PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a BRCA1/2 PV, after adjustment for confounders. Receiving a positive predictive BRCA1/2 result is associated with increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive BRCA1/2 result. These findings contribute to the evidence-base to inform long-term follow-up for women after predictive BRCA1/2 testing.
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Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing | Research Square window.SnipcartSettings = { analytics: { enabled: false } }; (function() { var accessVector = localStorage.getItem('access_vector') || ''; window.dataLayer = window.dataLayer || []; if (accessVector) { window.dataLayer.push({ user: { profile: { profileInfo: { snid: accessVector } } } }); } })(); (function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='https://www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-K279D39R'); Browse Preprints In Review Journals COVID-19 Preprints AJE Video Bytes Research Tools Research Promotion AJE Professional Editing AJE Rubriq About Preprint Platform In Review Editorial Policies Our Team Advisory Board Help Center Sign In Submit a Preprint Cite Share Download PDF Article Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing Laura Forrest, Rowan Forbes Shepherd, Tim Spelman, Louise Keogh, and 9 more This is a preprint; it has not been peer reviewed by a journal. https://doi.org/ 10.21203/rs.3.rs-6774023/v1 This work is licensed under a CC BY 4.0 License Status: Published Journal Publication published 03 Jan, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted 10 You are reading this latest preprint version Abstract The experiences and outcomes for women identified with a BRCA1/2 pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of BRCA1/2 status on women’s reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18–40 years who had predictive BRCA1/2 testing, received either a positive or negative result, and had no personal cancer history completed an online survey that used a case-control design. Outcome measures included childbearing, relationship status, and sexual functioning. 579 women participated (62.0% with a BRCA1/2 PV; 38.0% without a BRCA1/2 PV). More women with a BRCA1/2 PV had children compared to those who did not (49.0% c.f. , 40.5%; p = 0.045). BRCA1/2 status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient − 0.08; 95% CI -1.15, 0.98). Women with a BRCA1/2 PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a BRCA1/2 PV, after adjustment for confounders. Receiving a positive predictive BRCA1/2 result is associated with increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive BRCA1/2 result. These findings contribute to the evidence-base to inform long-term follow-up for women after predictive BRCA1/2 testing. Biological sciences/Cancer/Cancer prevention Biological sciences/Cancer/Cancer genetics Scientific community and society/Social sciences/Psychology/Human behaviour Health sciences/Health care/Quality of life Hereditary breast and ovarian cancer syndrome women young adult sexual health reproduction INTRODUCTION Women with a germline BRCA1/2 pathogenic variant (PV), or hereditary breast and ovarian cancer syndrome (HBOC), have significantly increased risks of breast (69–72%) and ovarian cancer (17–44%) to 80 years of age [ 1 ]. Young women with HBOC can anticipate substantial life expectancy benefits by using primary and secondary cancer prevention strategies [ 1 – 6 ]. However, these risk management options have biological, psychological, interpersonal, and socio-cultural implications and may impact fundamental and normative experiences of young adulthood including sexual health and intimate relationships [ 7 , 8 ]. This life stage is further complicated by the consideration of the timing of childbearing intersecting with risk management, and the indication of decreased ovarian reserve in women with a BRCA1 PV [ 9 ]. Delayed childbearing is a global trend stemming from women exercising personal choice, changing personal economic considerations and the evolution of cultural values [ 10 ]. Access to education, employment, and contraception has led to a shift in societal norms and women’s sexual and reproductive freedom resulted in an increase in the average age of first childbirth from the mid-20th century [ 11 ]. However, the choice to delay childbearing beyond their 20s and into their 30s and 40s may be complicated for women at high risk of breast and ovarian cancer by recommendations to adopt cancer prevention strategies during young adulthood [ 10 , 11 ]. Furthermore, surgically removing ovaries and fallopian tubes by 35–40 years of age to mitigate ovarian cancer risk marks the end of fertility for women with a BRCA1/2 PV and puts a temporal pressure on women at high risk compared to their same age peers in terms of the available timeline for reproductive planning [ 12 ]. Women with HBOC have described living a ‘compressed family life cycle’ due to this perceived urgency to complete childbearing prior to risk-reducing gynaecological surgery [ 13 ]. Decisions about childbearing may be further complicated by management of breast cancer risk [ 14 , 15 ]. For example, the incompatibility of chemoprevention with conception and the inability to breastfeed after a risk-reducing bilateral mastectomy introduces complexity into intimate and reproductive experiences [ 16 , 17 ]. While the experience of young adulthood for women with HBOC has been well described in qualitative studies, the extent that these findings can be broadly generalised remains uncertain as contemporaneous quantitative outcomes are limited with few studies recruiting sufficient samples to draw meaningful conclusions [ 18 ]. One study identified no differences in childbirth rates between women with and without a BRCA1/2 PV up to five years after genetic testing [ 19 ]. This finding contrasts with women’s description of the perceived urgency to complete childbearing before undergoing risk-reducing surgeries [ 19 ]. This conflicting evidence is challenging to incorporate into developmentally, age appropriate and nuanced genetic counselling when facilitating young, high-risk women’s decision making about cancer prevention strategies and the intersection with childbearing [ 20 , 21 ]. This study investigated the association between BRCA1/2 status and childbearing, sexual functioning, and body image for young women recruited from clinical genetics services in Australia. This study tests the ‘compressed life cycle’ concept and aims to provide reliable estimates of the implications of BRCA status for young women’s normative development. This evidence can also be used when counselling women about cancer risk management after the genetic test result has been received. SUBJECTS AND METHODS Study design An observational, case-control approach using an online survey of women with and without a familial BRCA1/2 PV was undertaken in Australia from June 2019 to May 2021. Ethics This research was sponsored by the Peter MacCallum Cancer Centre (PMCC) and received multi-site ethics approval from the PMCC Human Research Ethics Committee (HREC/17/PMCC/284). Ethics approval was also granted by the Tasmanian Ethics Committee (protocol no. H0018312). Site governance was granted at ACT Health, Austin Health, Melbourne Health, NSW Local Area Health Service, PMCC, and King Edward Memorial Hospital, Western Australia. Subjects Women aged 18–40 years at the time of recruitment with no cancer history and who had a predictive BRCA1/2 test more than 12 months prior were eligible. Potential participants could have received either a positive or negative BRCA1/2 result and were invited via email from eight Australian clinical genetics services in the States of New South Wales, Tasmania, Victoria, and Western Australia and the Australian Capital Territory. Inherited Cancers Australia (formerly, Pink Hope), an Australian advocacy and support group for individuals with hereditary breast and ovarian cancer, also distributed the survey link on their Facebook support group information page. Sample size and power The Inherited Cancer Connect partnership database, a national collaboration between all Australian clinical genetics services and familial cancer centres, was analysed in April 2019 identifying 1860 women aged 18–40 years who had received a positive predictive BRCA1/2 PV result [ 22 ]. Given the autosomal dominant inheritance of BRCA1/2 PVs, an estimated 3720 women would have had a predictive BRCA1/2 PV test and be in this age group. Based on this population, with a 99% confidence level with 5% confidence interval (CI), an estimated sample size of 564 was needed. Instrumentation Survey domains were identified from a qualitative study that identified key experiences of young adulthood that intersected with, and were exacerbated by, decisions and experiences of cancer risk management [ 17 ]. These experiences included reproductive decision-making, and experiences of intimacy, and intimate partner relationships. The survey was constructed to include purpose-designed questions and validated measures to specifically examine these domains of interest. Logic was incorporated to ensure respondents only answered questions relevant to their circumstances, including demographics, clinical genetics information, uptake of breast cancer risk management strategies, childbearing pre- and post-genetic testing, sexual functioning, and body image. The survey was refined through an iterative process involving face validity with clinical experts and piloting with the target audience [ 23 ]. The survey was hosted on Research Electronic Data Capture (REDCap) at The University of Melbourne and used required response options to mitigate the risk of missing data [ 24 , 25 ]. Demographic information included years of age, relationship status (partnered at the time of the survey or not), childbearing status, educational attainment, State or Territory of residence, and postcode. Socio-economic status was derived from postcode data to determine the Socio-Economic Index for Area (SEIFA). Clinical genetic test information included predictive BRCA1/2 test result and years since genetic testing. Uptake of breast cancer risk management included breast screening, risk-reducing medication, risk-reducing breast surgery, none, or other. Participants who indicated they had children were asked whether they had any of their children before and after testing, and how many at each time point. Sexual functioning during the last month at the time of the survey was captured using the sexual functioning (SAQ-F) component of the sexual activity questionnaire (SAQ). The SAQ-F has four subscales: pleasure (SAQ-P), discomfort (SAQ-D), habit (SAQ-H), and tiredness [ 26 ]. Responses to the SAQ-F items are scored on a 4-point scale ranging from 0 to 3 and summarized within each subscale. A higher sum score indicated greater pleasure, more discomfort, more sexual activity, and more tiredness. The SAQ-P consists of six items with sum score ranging from 0 to 18. The SAQ-D consists of two items with sum score ranging from 0 to 6. The SAQ-H and tiredness-scale consist of one item each with sum score from 0 to 3. Cronbach’s alpha for SAQ-F was 0.83. Body image was examined using the Body Image Scale (BIS), which consists of 13 items scored on a 5-point scale, ranging from 1 to 5 [ 27 ]. Negatively worded items were re-coded and a mean scale score was calculated where higher scores indicate a more positive body image. Cronbach’s alpha for BIS was 0.92. Data analysis Demographic differences between the groups positive and negative for a pathogenic variant were compared by chi-square or Fishers exact tests for categorical variables and rank-sum testing for continuous variables. Associations with BRCA1/2 status were examined by univariate and multivariate logistic regression, adjusting for demographic, relationship and clinical confounders. Goodness-of-fit was assessed using a Hosmer & Lemeshow test. Factors associated with SAQ-P, SAQ-D, SAQ-H, number of children after genetic testing, and body image were analysed using linear mean regression analyses. Model fit was assessed via analysis of the coefficient of determination. Effect sizes were presented as point estimate odds ratios with accompanying 95% confidence intervals (CI). p values < 0.05 were considered statistically significant. All analyses were conducted in Stata version 18 (StataCorp. 2023. Stata Statistical Software: Release 18. College Station, TX: StataCorp LLC). RESULTS Approximately, 2500 potential women aged 18–40 years were invited from the Australian clinical genetics services and an unknown number viewed the survey information via the Inherited Cancers Australia Facebook page. A total of 579 women participated at a mean age of 31.75 years (SD 5.54; range 18–40); 62.0% had received a positive result for a BRCA1/2 PV (Table 1 ). Demographic variables were mostly well balanced between the groups who reported a BRCA1/2 PV and those who did not. Overall, respondents were well-educated, mostly from the state of Victoria, and lived in areas with high socio-economic status. Table 1 Participant demographic and clinical characteristics BRCA1/2 PV (n = 359) No BRCA1/2 PV (n = 220) p-value Age at time of survey, years 0.399 Mean ± SD 31.92 ± 5.4 31.46 ± 5.7 Median (IQR) 32 (27, 36) 32 (26.5, 36) Age (yrs) at genetic testing 26.58 (5.4) 27.33 (5.8) 0.111 Years since genetic testing 5.34 (4.0) 4.18 (3.3) < 0.001 Relationship (yes) 277 (77.2) 160 (72.7) 0.229 Education (tertiary) 232 (64.6) 142 (64.6) 0.985 Children (yes) 176 (49.0) 89 (40.5) 0.045 Residential State or Territory ACT 26 (7.3) 11 (5.0) NSW 79 (22.1) 34 (15.5) NT 1 (0.3) 0 (0.0) QLD 7 (2.0) 6 (2.7) SA 3 (0.8) 1 (0.5) TAS 23 (6.4) 15 (6.8) VIC 169 (47.3) 111 (50.5) WA 49 (13.7) 42 (19.1) SEIFA: IRSD mean (SD) 7.13 (2.8) 7.06 (2.6) 0.391 1–4 80 (22.5) 49 (22.4) 0.490 5–7 64 (18.0) 48 (21.9) 8–10 212 (59.6) 122 (55.7) Breast risk management n = 350 n = 215 Breast screening 195 (55.7) 6 (2.8) Chemoprevention 4 (1.1) 0 (0.0) Risk-reducing mastectomy 95 (27.1) 0 (0.0) None 56 (16.0) 175 (81.4) Other: clinical or self-exam only 0 (0.0) 34 (15.8) Participants underwent their genetic test at a mean age of 26.86 years (SD 5.55, range 15–39). A greater length of time had elapsed since women had received a positive BRCA1/2 PV result (5.34 years; SD 3.95) compared to those who received a negative BRCA1/2 PV result (4.18 years; SD 3.30; p < 0.001). Eighty-five percent of women who had a BRCA1/2 PV were engaged in cancer risk management and all bar one of the 16% who were not were aged 30 years or younger. Reproduction The impact of BRCA1/2 status on childbearing was analysed with adjustment for time since genetic testing, age in years, relationship status, socio-economic status, and education (Table 2 ). BRCA1/2 status was not significantly associated with the overall likelihood of having children (OR 1.43; 95% CI 0.92, 2.22; p = 0.109) but women with a BRCA1/2 PV were 1.83 fold more likely to report having children after their genetic test (OR 1.83: 95% CI 1.05, 3.21; p = 0.034). This corresponded to an average of 1.51 more children born after genetic testing to women who tested positive for a BRCA1/2 PV than those who tested negative (OR 1.51; 95% CI 1.11, 2.08; p = 0.010). Table 2 Factors associated with childbearing outcomes Children (any) Y/N a Children after genetic testing Y/N a No. of children after genetic testing b Category Odds Ratio (95% CI) p-value Odds Ratio (95% CI) p-value Odds Ratio (95% CI) p-value BRCA1/2 status BRCA negative Reference 0.109 Reference 0.034 Reference 0.010 BRCA positive 1.43 (0.92, 2.22) 1.83 (1.05, 3.21) 1.51 (1.11, 2.08) Time since genetic testing Continuous 1.03 (0.97, 1.10) 0.267 - - - - Age (years) Continuous 1.30 (1.24, 1.37) < 0.001 0.91 (0.84, 0.98) 0.015 1.13 (1.08, 1.16) < 0.001 Relationship status (partnered) No Reference < 0.001 Reference 0.014 Reference < 0.001 Yes 6.77 (3.86, 11.86) 3.13 (1.26, 7.80) 4.71 (2.59, 8.50) Socio-economic status Continuous 0.94 (0.86, 1.01) 0.108 1.19 (1.07, 1.32) 0.001 1.06 (1.00, 1.13) 0.044 Education Not tertiary Reference 0.990 Reference 0.439 Reference 0.520 Tertiary 1.00 (0.64, 1.56) 1.25 (0.71, 2.21) 1.11 (0.81, 1.52) a Multivariate logistic regression for children (any) and children after genetic testing b Multivariate linear mean regression for the number of children outcome Partnering BRCA1/2 status was not predictive of whether women were partnered after adjusting for time since genetic testing, age, socio-economic status, and education (OR 1.20; 95% CI 0.80, 1.78; p = 0.375) (supplementary table 1 ). Sexual pleasure, discomfort, and habit There were no differences reported in sexual pleasure or discomfort experienced by women with or without a BRCA1/2 PV or those who had or had not had a risk-reducing mastectomy (Table 3 ). However, sexual habit over the last month reported by women with a BRCA1/2 PV was reduced by 0.88 fold compared to women without a BRCA1/2 PV (OR 0.88; 95% CI 0.77, 0.99; p = 0.034), adjusting for confounders. Increasing age was associated with a decrease in sexual pleasure (OR 0.84; 95% CI 0.76, 0.92; p < 0.001), discomfort (OR 0.95; 95% CI 0.91, 0.98; p = 0.001), and habit (OR 0.99; 95% CI 0.97, 1.00; p = 0.031). In contrast, when adjusting for all other variables, increasing body image score was associated with increased sexual pleasure (OR 5.70; 95% CI 3.19, 10.18; p < 0.001), decreased discomfort (OR 0.81; 95% CI 0.67, 0.98; p = 0.030), and increased sexual habit (OR 1.14; 95% CI 1.05, 1.22; p < 0.001). Table 3 Factors associated with sexual functioning Pleasure Discomfort Habit Category Odds Ratio (95% CI) p-value Odds Ratio (95% CI) p-value Odds Ratio (95% CI) p-value BRCA1/2 status BRCA negative Reference 0.514 Reference 0.759 Reference 0.034 BRCA positive 1.36 (0.53, 3.49) 0.95 (0.70, 1.30) 0.88 (0.77, 0.99) Time since genetic testing Continuous 1.09 (0.97, 1.23) 0.129 0.98 (0.95, 1.02) 0.365 1.00 (0.99, 1.02) 0.538 Age (years) Continuous 0.84 (0.76, 0.92) < 0.001 0.95 (0.91, 0.98) 0.001 0.99 (0.97, 1.00) 0.031 Education Not tertiary Reference 0.371 Reference 0.825 Reference 0.512 Tertiary 0.66 (0.27, 1.62) 1.03 (0.77, 1.39) 0.96 (0.85, 1.08) Relationship status (partnered) No Reference 0.393 Reference 0.068 Reference 0.009 Yes 0.54 (0.13, 2.23) 1.54 (0.97, 2.46) 0.78 (0.64, 0.94) Children No Reference 0.105 Reference 0.528 Reference 0.388 Yes 0.42 (0.15, 1.20) 1.12 (0.80, 1.57) 0.94 (0.82, 1.08) Body image Continuous 5.70 (3.19, 10.18) < 0.001 0.81 (0.67, 0.98) 0.030 1.14 (1.05, 1.22) < 0.001 Risk reducing mastectomy No Reference 0.366 Reference 0.911 Reference 0.478 Yes 0.57 (0.17, 1.92) 1.02 (0.68, 1.52) 1.06 (0.90, 1.25) *Multivariate linear mean regression for pleasure, discomfort, and habit outcomes. Body image Body image was higher for women who had a BRCA1/2 PV (OR 1.19; 95% CI 1.03, 1.36; p = 0.015), were partnered (OR 1.19; 95% CI 1.02, 1.38; p = 0.031), or were tertiary educated (OR 1.31; 95% CI 1.15, 1.49; p < 0.001), adjusting for confounders (Table 4 ). There was no difference in body image observed between women who had and had not had a risk-reducing mastectomy. Table 4 Factors associated with body image Body image Category Odds Ratio (95% CI) p-value BRCA1/2 status BRCA negative Reference 0.015 BRCA positive 1.19 (1.03, 1.36) Time since genetic testing (years) Continuous 0.99 (0.97, 1.00) 0.122 Age (years) Continuous 1.00 (0.99, 1.02) 0.646 Relationship status (partnered) No Reference 0.031 Yes 1.19 (1.02, 1.38) Children No Reference 0.031 Yes 0.84 (0.73, 0.98) Education Not tertiary Reference < 0.001 Tertiary 1.31 (1.15, 1.49) Risk-reducing mastectomy No Reference 0.088 Yes 0.85 (0.72, 1.02) *Multivariate linear mean regression for body image outcome. DISCUSSION In this cohort of young women who had predictive testing, a positive result for a PV in BRCA1/2 was found to correlate with an increase in subsequent childbearing compared to those who tested negative. Women with a BRCA1/2 PV were more likely to have a greater number of children by the age of 40 years. These findings corroborate prior observations of women’s perceptions of an “increased temporal pressure” [ 15 ] to have children due a BRCA1/2 PV and demonstrates that these intentions are translated into measurable differences in behaviour. This highlights the need to explore reproductive intentions during genetic counselling when women are receiving positive BRCA1/2 test results as they are likely to reassess their personal timeline for childbearing while also weighing decisions about cancer risk management strategies. This increased rate of childbearing for women with a BRCA1/2 PV may be responding to the recommendation to reduce ovarian cancer risk via bilateral salpingo-oophorectomy once childbearing is complete [ 15 ]. Importantly, these findings demonstrate that women’s family formation is not inhibited by their BRCA1/2 status, which contrasts with prior indications that women would not have children due to the risk of passing on a PV [ 28 ]. Previous research has found that women are concerned that a BRCA1/2 PV may jeopardise their ability to form intimate relationships due to the existential health threat of a future cancer diagnosis [ 29 ]. Further, women are concerned that any potential impact on body image caused by risk-reducing breast surgery may also impair sexual functioning and relationship development [ 27 ]. Reassuringly, our results found no evidence that BRCA1/2 status detrimentally impacts women’s ability to partner or their sexual functioning in the group as a whole. However, this study did not set out to examine the nuances of relationship experiences of young women and other research has found that while most women receive support from partners during the testing process, for some, the process can strain the relationship [ 30 ]. Engagement and satisfaction with sexual activity is a psychosexual experience that positively contributes to quality of life [ 31 ]. The impact of having a BRCA1/2 PV and more specifically, uptake of risk-reducing breast surgery, upon women’s sexual functioning and satisfaction has been raised as a concern but has not been previously examined in detail in the relavant population of young women at high risk of cancer using a matched comparator group. Our findings identified no observed differences in women’s sexual functioning for those with and without a BRCA1/2 PV. Fundamentally, the factors driving sexual experiences across all respondents were common to the general population where aging is associated with a decline in sexual function and body image correlates positively with sexual satisfaction [ 32 , 33 ]. Despite the magnitude of risk-reducing breast surgery and the potential for longer term impact on body image, it was reassuring there were no differences observed between the women who had risk-reducing breast surgery compared to those who did not. Body image has been shown to decline in the months after risk-reducing breast surgery but subsequently improves with time with recovery from surgery and completion of reconstruction [ 27 , 34 , 35 ]. Improvements in surgical techniques that achieve better cosmetic outcomes than previous decades may also be minimising impact on body image after risk-reducing breast surgery. Limitations A response rate for the survey was unable to be calculated as the survey link was shared via social media and so it is unknown how many eligible women were exposed to the survey information but did not respond. However, the number of survey respondents exceeded the required sample size based on the population estimate. There were no demographic questions included about gender, sexuality, or cultural or linguistic diversity and so the diversity of the study population is unable to be determined. It is known in Australia that individuals of non-European ancestries are underrepresented in the patient populations of the clinical genetics services due to access barriers for culturally or linguistically diverse individuals. This is likely to mean that the study participants are reflective of the same group and may not reflect the diversity of the Australian population. CONCLUSIONS Receiving a positive BRCA1/2 test result fundamentally changes the course of young women’s lives, not only through the need to consider the adoption of cancer risk management strategies, but also due the impact on reproductive timing and outcomes. Women’s perceived urgency to complete childbearing appears to be translated to an increased likelihood of having children after a positive predictive BRCA1/2 test and having more children compared to their same aged peers who received negative test results. This supports the need for developmentally-appropriate genetic counselling for women considering predictive BRCA1/2 testing and again at receipt of positive results to begin to support women’s preparation for the potential to fulfil a desire to complete their childbearing at an age younger than their peers. Declarations Ethical approval: This research was performed in accordance with the Declaration of Helskini and received multi-site ethics approval from the Peter MacCallum Cancer Centre Human Research Ethics Committee (HREC/17/PMCC/284). Ethics approval was also granted by the Tasmanian Ethics Committee (protocol no. H0018312). Site governance was granted at ACT Health, Austin Health, Melbourne Health, NSW Local Area Health Service, PMCC, and King Edward Memorial Hospital, Western Australia. Informed consent was obtained from all participants. Competing interests The authors declare no competing interests. Funding: A/Prof Laura Forrest was awarded a postdoctoral fellowship from the National Breast Cancer Foundation, Australia (PF 14 − 009) to undertake this study. Acknowledgements: The authors acknowledge Alexandra Lewis and Tess Schenberg for their assistance with the face validity testing. We also acknowledge and thank the women who completed the survey. 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Glassey R, Ives A, Saunders C, Musiello T. Decision making, psychological wellbeing and psychosocial outcomes for high risk women who choose to undergo bilateral prophylactic mastectomy - A review of the literature. Breast (Edinburgh, Scotland). 2016;28:130–5. Mancini J, Mouret-Fourme E, Nogues C, Julian-Reynier C. Impact of BRCA1/2 mutation on young women's 5-year parenthood rates: a prospective comparative study (GENEPSO-PS cohort). Fam Cancer. 2015;14(2):273–9. Young MA, Thompson K, Lewin J, Holland L. A framework for youth-friendly genetic counseling. J Community Genet. 2020;11(2):161–70. Forbes Shepherd R, Lewis A, Keogh LA, Werner-Lin A, Delatycki MB, Forrest LE. A Systematic Review of How Young People Live with Inherited Disease: What Can We Learn for Li-Fraumeni Syndrome? J Adolesc Young Adult Oncol. 2018;7(5):525–45. Forrest L, Mitchell G, Thrupp L, Petelin L, Richardson K, Mascarenhas L, et al. Consumer attitudes towards the establishment of a national Australian familial cancer research database by the Inherited Cancer Connect (ICCon) Partnership. J Community Genet. 2018;9(1):57–64. Middleton A, Bragin E, Morley KI, Parker M, Study DDD. Online questionnaire development: using film to engage participants and then gather attitudes towards the sharing of genomic data. Soc Sci Res. 2014;44(100):211–23. Harris PA, Taylor R, Minor BL, Elliott V, Fernandez M, O'Neal L, et al. The REDCap consortium: Building an international community of software platform partners. J Biomed Inform. 2019;95:103208. Harris PA, Taylor R, Thielke R, Payne J, Gonzalez N, Conde JG. Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377–81. Thirlaway K, Fallowfield L, Cuzick J. The Sexual Activity Questionnaire: a measure of women's sexual functioning. Qual Life Res. 1996;5(1):81–90. Gopie JP, Mureau MA, Seynaeve C, Ter Kuile MM, Menke-Pluymers MB, Timman R, et al. Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer. Fam Cancer. 2013;12(3):479–87. Chan JL, Johnson LNC, Sammel MD, DiGiovanni L, Voong C, Domchek SM, et al. Reproductive Decision-Making in Women with BRCA1/2 Mutations. J Genet Couns. 2017;26(3):594–603. Hoskins LM, Roy K, Peters JA, Loud JT, Greene MH. Disclosure of Positive BRCA1/2-Mutation Status in Young Couples: The Journey From Uncertainty to Bonding Through Partner Support. Families, systems & health: the journal of collaborative family healthcare. 2008;26(3):296–316. Manne S, Audrain J, Schwartz M, Main D, Finch C, Lerman C. Associations between relationship support and psychological reactions of participants and partners to BRCA1 and BRCA2 testing in a clinic-based sample. Ann Behav Med. 2004;28(3):211–25. Thomas HN, Thurston RC. A biopsychosocial approach to women's sexual function and dysfunction at midlife: A narrative review. Maturitas. 2016;87:49–60. Hayes R, Dennerstein L. The impact of aging on sexual function and sexual dysfunction in women: a review of population-based studies. J Sex Med. 2005;2(3):317–30. Pujols Y, Seal BN, Meston CM. The association between sexual satisfaction and body image in women. J Sex Med. 2010;7(2 Pt 2):905–16. Luque Suarez S, Olivares Crespo ME, Brenes Sanchez JM, Herrera de la Muela M. Immediate Psychological Implications of Risk-Reducing Mastectomies in Women With Increased Risk of Breast Cancer: A Comparative Study. Clin Breast Cancer. 2024;24(7):620–9. Torrisi C. Body Image in BRCA-Positive Young Women Following Bilateral Risk-Reducing Mastectomy: A Review of the Literature. Front Psychol. 2021;12:778484. Additional Declarations There is no duality of interest Supplementary Files TableS1Partnering.pdf Supplementary table 1. Factors associated with partnering Cite Share Download PDF Status: Published Journal Publication published 03 Jan, 2026 Read the published version in European Journal of Human Genetics → Version 1 posted Editorial decision: revise 03 Nov, 2025 Review # 2 received at journal 29 Oct, 2025 Review # 3 received at journal 19 Oct, 2025 Reviewer # 3 agreed at journal 09 Oct, 2025 Reviewer # 2 agreed at journal 03 Oct, 2025 Reviewer # 1 agreed at journal 22 Jul, 2025 Reviewers invited by journal 10 Jul, 2025 Submission checks completed at journal 05 Jun, 2025 Editor assigned by journal 29 May, 2025 First submitted to journal 29 May, 2025 You are reading this latest preprint version Research Square lets you share your work early, gain feedback from the community, and start making changes to your manuscript prior to peer review in a journal. As a division of Research Square Company, we’re committed to making research communication faster, fairer, and more useful. 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Also discoverable on Platform About Our Team In Review Editorial Policies Advisory Board Help Center Resources Author Services Accessibility API Access RSS feed Manage Cookie Preferences © Research Square 2026 | ISSN 2693-5015 (online) Privacy Policy Terms of Service Do Not Sell My Personal Information {"props":{"pageProps":{"initialData":{"identity":"rs-6774023","acceptedTermsAndConditions":true,"allowDirectSubmit":false,"archivedVersions":[],"articleType":"Article","associatedPublications":[],"authors":[{"id":483548835,"identity":"8d2bbc19-6c36-4a60-abb3-b55e280b845e","order_by":0,"name":"Laura Forrest","email":"data:image/png;base64,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","orcid":"https://orcid.org/0000-0002-1126-4971","institution":"Peter MacCallum Cancer Centre","correspondingAuthor":true,"prefix":"","firstName":"Laura","middleName":"","lastName":"Forrest","suffix":""},{"id":483548836,"identity":"57e9d5e8-2b9e-4f0a-9d47-a83100b3a092","order_by":1,"name":"Rowan Forbes Shepherd","email":"","orcid":"","institution":"Peter MacCallum Cancer 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Research","correspondingAuthor":false,"prefix":"","firstName":"Mary-Anne","middleName":"","lastName":"Young","suffix":""},{"id":483548840,"identity":"4f0a510e-5886-4db6-b5a0-de4ef0e063a0","order_by":5,"name":"Sarah Powell","email":"","orcid":"","institution":"Inherited Cancers Australia","correspondingAuthor":false,"prefix":"","firstName":"Sarah","middleName":"","lastName":"Powell","suffix":""},{"id":483548841,"identity":"baa1d8a2-feaf-48e4-b54a-bb30958ad02d","order_by":6,"name":"Catherine Beard","email":"","orcid":"https://orcid.org/0000-0001-9399-0709","institution":"The Royal Melbourne Hospital and Peter MacCallum Cancer Centre","correspondingAuthor":false,"prefix":"","firstName":"Catherine","middleName":"","lastName":"Beard","suffix":""},{"id":483548842,"identity":"fd70e90e-2f30-4f40-9cd3-9d55f75d34e6","order_by":7,"name":"Lucinda Salmon","email":"","orcid":"","institution":"Austin 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Tasmania","correspondingAuthor":false,"prefix":"","firstName":"Jo","middleName":"","lastName":"Burke","suffix":""},{"id":483548846,"identity":"ebbce4ef-7f87-4f62-8f3a-99708d80f899","order_by":11,"name":"Rebecca D'Souza","email":"","orcid":"","institution":"King Edward Memorial Hospital","correspondingAuthor":false,"prefix":"","firstName":"Rebecca","middleName":"","lastName":"D'Souza","suffix":""},{"id":483548847,"identity":"58048f8a-3bc7-4df6-8cd9-64a53aa67490","order_by":12,"name":"Paul James","email":"","orcid":"https://orcid.org/0000-0002-4361-4657","institution":"Peter MacCallum Cancer Centre","correspondingAuthor":false,"prefix":"","firstName":"Paul","middleName":"","lastName":"James","suffix":""}],"badges":[],"createdAt":"2025-05-29 07:45:44","currentVersionCode":1,"declarations":"","doi":"10.21203/rs.3.rs-6774023/v1","doiUrl":"https://doi.org/10.21203/rs.3.rs-6774023/v1","draftVersion":[],"editorialEvents":[{"content":"https://doi.org/10.1038/s41431-025-02010-9","type":"published","date":"2026-01-03T05:00:00+00:00"}],"editorialNote":"","failedWorkflow":false,"files":[{"id":99454791,"identity":"6e47ae39-b940-42b5-ac50-1582823ebd4a","added_by":"auto","created_at":"2026-01-04 08:05:36","extension":"pdf","order_by":0,"title":"","display":"","copyAsset":false,"role":"manuscript-pdf","size":1011981,"visible":true,"origin":"","legend":"","description":"","filename":"manuscript.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6774023/v1/c2d6c26d-ffd9-4e53-ab46-b8511c7e61fe.pdf"},{"id":86622611,"identity":"a6e6ffa2-900b-4508-9a99-74407eb67246","added_by":"auto","created_at":"2025-07-14 03:54:49","extension":"pdf","order_by":4,"title":"","display":"","copyAsset":false,"role":"supplement","size":55648,"visible":true,"origin":"","legend":"Supplementary table 1. Factors associated with partnering","description":"","filename":"TableS1Partnering.pdf","url":"https://assets-eu.researchsquare.com/files/rs-6774023/v1/837683f4ae1b54fc621bd452.pdf"}],"financialInterests":"There is no duality of interest","formattedTitle":"Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing","fulltext":[{"header":"INTRODUCTION","content":"\u003cp\u003eWomen with a germline \u003cem\u003eBRCA1/2\u003c/em\u003e pathogenic variant (PV), or hereditary breast and ovarian cancer syndrome (HBOC), have significantly increased risks of breast (69\u0026ndash;72%) and ovarian cancer (17\u0026ndash;44%) to 80 years of age [\u003cspan citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e]. Young women with HBOC can anticipate substantial life expectancy benefits by using primary and secondary cancer prevention strategies [\u003cspan additionalcitationids=\"CR2 CR3 CR4 CR5\" citationid=\"CR1\" class=\"CitationRef\"\u003e1\u003c/span\u003e\u0026ndash;\u003cspan citationid=\"CR6\" class=\"CitationRef\"\u003e6\u003c/span\u003e]. However, these risk management options have biological, psychological, interpersonal, and socio-cultural implications and may impact fundamental and normative experiences of young adulthood including sexual health and intimate relationships [\u003cspan citationid=\"CR7\" class=\"CitationRef\"\u003e7\u003c/span\u003e, \u003cspan citationid=\"CR8\" class=\"CitationRef\"\u003e8\u003c/span\u003e]. This life stage is further complicated by the consideration of the timing of childbearing intersecting with risk management, and the indication of decreased ovarian reserve in women with a \u003cem\u003eBRCA1\u003c/em\u003e PV [\u003cspan citationid=\"CR9\" class=\"CitationRef\"\u003e9\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eDelayed childbearing is a global trend stemming from women exercising personal choice, changing personal economic considerations and the evolution of cultural values [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e]. Access to education, employment, and contraception has led to a shift in societal norms and women\u0026rsquo;s sexual and reproductive freedom resulted in an increase in the average age of first childbirth from the mid-20th century [\u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. However, the choice to delay childbearing beyond their 20s and into their 30s and 40s may be complicated for women at high risk of breast and ovarian cancer by recommendations to adopt cancer prevention strategies during young adulthood [\u003cspan citationid=\"CR10\" class=\"CitationRef\"\u003e10\u003c/span\u003e, \u003cspan citationid=\"CR11\" class=\"CitationRef\"\u003e11\u003c/span\u003e]. Furthermore, surgically removing ovaries and fallopian tubes by 35\u0026ndash;40 years of age to mitigate ovarian cancer risk marks the end of fertility for women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV and puts a temporal pressure on women at high risk compared to their same age peers in terms of the available timeline for reproductive planning [\u003cspan citationid=\"CR12\" class=\"CitationRef\"\u003e12\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eWomen with HBOC have described living a \u0026lsquo;compressed family life cycle\u0026rsquo; due to this perceived urgency to complete childbearing prior to risk-reducing gynaecological surgery [\u003cspan citationid=\"CR13\" class=\"CitationRef\"\u003e13\u003c/span\u003e]. Decisions about childbearing may be further complicated by management of breast cancer risk [\u003cspan citationid=\"CR14\" class=\"CitationRef\"\u003e14\u003c/span\u003e, \u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. For example, the incompatibility of chemoprevention with conception and the inability to breastfeed after a risk-reducing bilateral mastectomy introduces complexity into intimate and reproductive experiences [\u003cspan citationid=\"CR16\" class=\"CitationRef\"\u003e16\u003c/span\u003e, \u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]. While the experience of young adulthood for women with HBOC has been well described in qualitative studies, the extent that these findings can be broadly generalised remains uncertain as contemporaneous quantitative outcomes are limited with few studies recruiting sufficient samples to draw meaningful conclusions [\u003cspan citationid=\"CR18\" class=\"CitationRef\"\u003e18\u003c/span\u003e]. One study identified no differences in childbirth rates between women with and without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV up to five years after genetic testing [\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]. This finding contrasts with women\u0026rsquo;s description of the perceived urgency to complete childbearing before undergoing risk-reducing surgeries [\u003cspan citationid=\"CR19\" class=\"CitationRef\"\u003e19\u003c/span\u003e]. This conflicting evidence is challenging to incorporate into developmentally, age appropriate and nuanced genetic counselling when facilitating young, high-risk women\u0026rsquo;s decision making about cancer prevention strategies and the intersection with childbearing [\u003cspan citationid=\"CR20\" class=\"CitationRef\"\u003e20\u003c/span\u003e, \u003cspan citationid=\"CR21\" class=\"CitationRef\"\u003e21\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eThis study investigated the association between \u003cem\u003eBRCA1/2\u003c/em\u003e status and childbearing, sexual functioning, and body image for young women recruited from clinical genetics services in Australia. This study tests the \u0026lsquo;compressed life cycle\u0026rsquo; concept and aims to provide reliable estimates of the implications of BRCA status for young women\u0026rsquo;s normative development. This evidence can also be used when counselling women about cancer risk management after the genetic test result has been received.\u003c/p\u003e"},{"header":"SUBJECTS AND METHODS","content":"\u003cp\u003eStudy design\u003c/p\u003e \u003cp\u003eAn observational, case-control approach using an online survey of women with and without a familial \u003cem\u003eBRCA1/2\u003c/em\u003e PV was undertaken in Australia from June 2019 to May 2021.\u003c/p\u003e \u003cp\u003eEthics\u003c/p\u003e \u003cp\u003e This research was sponsored by the Peter MacCallum Cancer Centre (PMCC) and received multi-site ethics approval from the PMCC Human Research Ethics Committee (HREC/17/PMCC/284). Ethics approval was also granted by the Tasmanian Ethics Committee (protocol no. H0018312). Site governance was granted at ACT Health, Austin Health, Melbourne Health, NSW Local Area Health Service, PMCC, and King Edward Memorial Hospital, Western Australia.\u003c/p\u003e \u003cp\u003eSubjects\u003c/p\u003e \u003cp\u003eWomen aged 18\u0026ndash;40 years at the time of recruitment with no cancer history and who had a predictive \u003cem\u003eBRCA1/2\u003c/em\u003e test more than 12 months prior were eligible. Potential participants could have received either a positive or negative \u003cem\u003eBRCA1/2\u003c/em\u003e result and were invited via email from eight Australian clinical genetics services in the States of New South Wales, Tasmania, Victoria, and Western Australia and the Australian Capital Territory. Inherited Cancers Australia (formerly, Pink Hope), an Australian advocacy and support group for individuals with hereditary breast and ovarian cancer, also distributed the survey link on their Facebook support group information page.\u003c/p\u003e \u003cp\u003eSample size and power\u003c/p\u003e \u003cp\u003eThe Inherited Cancer Connect partnership database, a national collaboration between all Australian clinical genetics services and familial cancer centres, was analysed in April 2019 identifying 1860 women aged 18\u0026ndash;40 years who had received a positive predictive \u003cem\u003eBRCA1/2\u003c/em\u003e PV result [\u003cspan citationid=\"CR22\" class=\"CitationRef\"\u003e22\u003c/span\u003e]. Given the autosomal dominant inheritance of \u003cem\u003eBRCA1/2\u003c/em\u003e PVs, an estimated 3720 women would have had a predictive \u003cem\u003eBRCA1/2\u003c/em\u003e PV test and be in this age group. Based on this population, with a 99% confidence level with 5% confidence interval (CI), an estimated sample size of 564 was needed.\u003c/p\u003e \u003cp\u003eInstrumentation\u003c/p\u003e \u003cp\u003eSurvey domains were identified from a qualitative study that identified key experiences of young adulthood that intersected with, and were exacerbated by, decisions and experiences of cancer risk management [\u003cspan citationid=\"CR17\" class=\"CitationRef\"\u003e17\u003c/span\u003e]. These experiences included reproductive decision-making, and experiences of intimacy, and intimate partner relationships. The survey was constructed to include purpose-designed questions and validated measures to specifically examine these domains of interest. Logic was incorporated to ensure respondents only answered questions relevant to their circumstances, including demographics, clinical genetics information, uptake of breast cancer risk management strategies, childbearing pre- and post-genetic testing, sexual functioning, and body image.\u003c/p\u003e \u003cp\u003eThe survey was refined through an iterative process involving face validity with clinical experts and piloting with the target audience [\u003cspan citationid=\"CR23\" class=\"CitationRef\"\u003e23\u003c/span\u003e]. The survey was hosted on Research Electronic Data Capture (REDCap) at The University of Melbourne and used required response options to mitigate the risk of missing data [\u003cspan citationid=\"CR24\" class=\"CitationRef\"\u003e24\u003c/span\u003e, \u003cspan citationid=\"CR25\" class=\"CitationRef\"\u003e25\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eDemographic information included years of age, relationship status (partnered at the time of the survey or not), childbearing status, educational attainment, State or Territory of residence, and postcode. Socio-economic status was derived from postcode data to determine the Socio-Economic Index for Area (SEIFA). Clinical genetic test information included predictive \u003cem\u003eBRCA1/2\u003c/em\u003e test result and years since genetic testing. Uptake of breast cancer risk management included breast screening, risk-reducing medication, risk-reducing breast surgery, none, or other. Participants who indicated they had children were asked whether they had any of their children before and after testing, and how many at each time point.\u003c/p\u003e \u003cp\u003eSexual functioning during the last month at the time of the survey was captured using the sexual functioning (SAQ-F) component of the sexual activity questionnaire (SAQ). The SAQ-F has four subscales: pleasure (SAQ-P), discomfort (SAQ-D), habit (SAQ-H), and tiredness [\u003cspan citationid=\"CR26\" class=\"CitationRef\"\u003e26\u003c/span\u003e]. Responses to the SAQ-F items are scored on a 4-point scale ranging from 0 to 3 and summarized within each subscale. A higher sum score indicated greater pleasure, more discomfort, more sexual activity, and more tiredness. The SAQ-P consists of six items with sum score ranging from 0 to 18. The SAQ-D consists of two items with sum score ranging from 0 to 6. The SAQ-H and tiredness-scale consist of one item each with sum score from 0 to 3. Cronbach\u0026rsquo;s alpha for SAQ-F was 0.83.\u003c/p\u003e \u003cp\u003eBody image was examined using the Body Image Scale (BIS), which consists of 13 items scored on a 5-point scale, ranging from 1 to 5 [\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]. Negatively worded items were re-coded and a mean scale score was calculated where higher scores indicate a more positive body image. Cronbach\u0026rsquo;s alpha for BIS was 0.92.\u003c/p\u003e \u003cdiv id=\"Sec3\" class=\"Section2\"\u003e \u003ch2\u003eData analysis\u003c/h2\u003e \u003cp\u003eDemographic differences between the groups positive and negative for a pathogenic variant were compared by chi-square or Fishers exact tests for categorical variables and rank-sum testing for continuous variables. Associations with \u003cem\u003eBRCA1/2\u003c/em\u003e status were examined by univariate and multivariate logistic regression, adjusting for demographic, relationship and clinical confounders. Goodness-of-fit was assessed using a Hosmer \u0026amp; Lemeshow test. Factors associated with SAQ-P, SAQ-D, SAQ-H, number of children after genetic testing, and body image were analysed using linear mean regression analyses. Model fit was assessed via analysis of the coefficient of determination. Effect sizes were presented as point estimate odds ratios with accompanying 95% confidence intervals (CI). \u003cem\u003ep\u003c/em\u003e values\u0026thinsp;\u0026lt;\u0026thinsp;0.05 were considered statistically significant. All analyses were conducted in Stata version 18 (StataCorp. 2023. \u003cem\u003eStata Statistical Software: Release 18. College Station, TX: StataCorp LLC).\u003c/em\u003e\u003c/p\u003e \u003c/div\u003e"},{"header":"RESULTS","content":"\u003cp\u003eApproximately, 2500 potential women aged 18\u0026ndash;40 years were invited from the Australian clinical genetics services and an unknown number viewed the survey information via the Inherited Cancers Australia Facebook page. A total of 579 women participated at a mean age of 31.75 years (SD 5.54; range 18\u0026ndash;40); 62.0% had received a positive result for a \u003cem\u003eBRCA1/2\u003c/em\u003e PV (Table\u0026nbsp;\u003cspan refid=\"Tab1\" class=\"InternalRef\"\u003e1\u003c/span\u003e). Demographic variables were mostly well balanced between the groups who reported a \u003cem\u003eBRCA1/2 PV\u003c/em\u003e and those who did not. Overall, respondents were well-educated, mostly from the state of Victoria, and lived in areas with high socio-economic status.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab1\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 1\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eParticipant demographic and clinical characteristics\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"char\" char=\".\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA1/2\u003c/em\u003e PV\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;359)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c3\"\u003e \u003cp\u003e\u003cem\u003eNo BRCA1/2\u003c/em\u003e PV\u003c/p\u003e \u003cp\u003e(n\u0026thinsp;=\u0026thinsp;220)\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAge at time of survey, years\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.399\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMean \u0026plusmn; SD\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e31.92 \u0026plusmn; 5.4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e31.46 \u0026plusmn; 5.7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eMedian (IQR)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e32 (27, 36)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e32 (26.5, 36)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eAge (yrs) at genetic testing\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e26.58 (5.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e27.33 (5.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.111\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eYears since genetic testing\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e5.34 (4.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e4.18 (3.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e\u0026lt;\u0026thinsp;0.001\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eRelationship (yes)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e277 (77.2)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e160 (72.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.229\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eEducation (tertiary)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e232 (64.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e142 (64.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.985\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eChildren (yes)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e176 (49.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e89 (40.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.045\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eResidential State or Territory\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eACT\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e26 (7.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e11 (5.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNSW\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e79 (22.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e34 (15.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNT\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e1 (0.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0 (0.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eQLD\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e7 (2.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (2.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSA\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e3 (0.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1 (0.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eTAS\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e23 (6.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e15 (6.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eVIC\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e169 (47.3)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e111 (50.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eWA\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e49 (13.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e42 (19.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eSEIFA: IRSD mean (SD)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e7.13 (2.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e7.06 (2.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\"\u003e \u003cp\u003e0.391\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e1\u0026ndash;4\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e80 (22.5)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e49 (22.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"char\" char=\".\" colname=\"c4\" morerows=\"2\" rowspan=\"3\"\u003e \u003cp\u003e0.490\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e5\u0026ndash;7\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e64 (18.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e48 (21.9)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e8\u0026ndash;10\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e212 (59.6)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e122 (55.7)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBreast risk management\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003en\u0026thinsp;=\u0026thinsp;350\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003en\u0026thinsp;=\u0026thinsp;215\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eBreast screening\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e195 (55.7)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6 (2.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eChemoprevention\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e4 (1.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0 (0.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eRisk-reducing mastectomy\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e95 (27.1)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0 (0.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eNone\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e56 (16.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e175 (81.4)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003eOther: clinical or self-exam only\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e0 (0.0)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e34 (15.8)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e\u0026nbsp;\u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eParticipants underwent their genetic test at a mean age of 26.86 years (SD 5.55, range 15\u0026ndash;39). A greater length of time had elapsed since women had received a positive \u003cem\u003eBRCA1/2\u003c/em\u003e PV result (5.34 years; SD 3.95) compared to those who received a negative \u003cem\u003eBRCA1/2\u003c/em\u003e PV result (4.18 years; SD 3.30; p\u0026thinsp;\u0026lt;\u0026thinsp;0.001). Eighty-five percent of women who had a \u003cem\u003eBRCA1/2\u003c/em\u003e PV were engaged in cancer risk management and all bar one of the 16% who were not were aged 30 years or younger.\u003c/p\u003e \u003cp\u003eReproduction\u003c/p\u003e \u003cp\u003eThe impact of \u003cem\u003eBRCA1/2\u003c/em\u003e status on childbearing was analysed with adjustment for time since genetic testing, age in years, relationship status, socio-economic status, and education (Table\u0026nbsp;\u003cspan refid=\"Tab2\" class=\"InternalRef\"\u003e2\u003c/span\u003e). \u003cem\u003eBRCA1/2\u003c/em\u003e status was not significantly associated with the overall likelihood of having children (OR 1.43; 95% CI 0.92, 2.22; p\u0026thinsp;=\u0026thinsp;0.109) but women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV were 1.83 fold more likely to report having children after their genetic test (OR 1.83: 95% CI 1.05, 3.21; p\u0026thinsp;=\u0026thinsp;0.034). This corresponded to an average of 1.51 more children born after genetic testing to women who tested positive for a \u003cem\u003eBRCA1/2\u003c/em\u003e PV than those who tested negative (OR 1.51; 95% CI 1.11, 2.08; p\u0026thinsp;=\u0026thinsp;0.010).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab2\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 2\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eFactors associated with childbearing outcomes\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"8\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c7\" colnum=\"7\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c8\" colnum=\"8\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c4\" namest=\"c3\"\u003e \u003cp\u003eChildren (any) Y/N\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c6\" namest=\"c5\"\u003e \u003cp\u003eChildren after genetic testing Y/N\u003csup\u003ea\u003c/sup\u003e\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c8\" namest=\"c7\"\u003e \u003cp\u003eNo. of children after genetic testing\u003csup\u003eb\u003c/sup\u003e\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eCategory\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eBRCA1/2\u003c/b\u003e \u003cb\u003estatus\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e negative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.109\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.034\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.010\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e positive\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.43 (0.92, 2.22)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.83 (1.05, 3.21)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.51 (1.11, 2.08)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eTime since genetic testing\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.03 (0.97, 1.10)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.267\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e-\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e-\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eAge (years)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.30 (1.24, 1.37)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e0.91 (0.84, 0.98)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e\u003cb\u003e0.015\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.13 (1.08, 1.16)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eRelationship status (partnered)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.014\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e6.77 (3.86, 11.86)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e3.13 (1.26, 7.80)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e4.71 (2.59, 8.50)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eSocio-economic status\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.94 (0.86, 1.01)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.108\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.19 (1.07, 1.32)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e\u003cb\u003e0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.06 (1.00, 1.13)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e\u003cb\u003e0.044\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eEducation\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNot tertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.990\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.439\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.520\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.00 (0.64, 1.56)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.25 (0.71, 2.21)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.11 (0.81, 1.52)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"8\"\u003e\u003csup\u003ea\u003c/sup\u003eMultivariate logistic regression for children (any) and children after genetic testing\u003c/td\u003e\u003c/tr\u003e \u003ctr\u003e\u003ctd colspan=\"8\"\u003e\u003csup\u003e\u003cb\u003eb\u003c/b\u003e\u003c/sup\u003eMultivariate linear mean regression for the number of children outcome\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003ePartnering\u003c/p\u003e \u003cp\u003e \u003cem\u003eBRCA1/2\u003c/em\u003e status was not predictive of whether women were partnered after adjusting for time since genetic testing, age, socio-economic status, and education (OR 1.20; 95% CI 0.80, 1.78; p\u0026thinsp;=\u0026thinsp;0.375) (supplementary table \u003cspan refid=\"MOESM1\" class=\"InternalRef\"\u003e1\u003c/span\u003e).\u003c/p\u003e \u003cp\u003eSexual pleasure, discomfort, and habit\u003c/p\u003e \u003cp\u003eThere were no differences reported in sexual pleasure or discomfort experienced by women with or without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV or those who had or had not had a risk-reducing mastectomy (Table\u0026nbsp;\u003cspan refid=\"Tab3\" class=\"InternalRef\"\u003e3\u003c/span\u003e). However, sexual habit over the last month reported by women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV was reduced by 0.88 fold compared to women without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV (OR 0.88; 95% CI 0.77, 0.99; p\u0026thinsp;=\u0026thinsp;0.034), adjusting for confounders. Increasing age was associated with a decrease in sexual pleasure (OR 0.84; 95% CI 0.76, 0.92; p\u0026thinsp;\u0026lt;\u0026thinsp;0.001), discomfort (OR 0.95; 95% CI 0.91, 0.98; p\u0026thinsp;=\u0026thinsp;0.001), and habit (OR 0.99; 95% CI 0.97, 1.00; p\u0026thinsp;=\u0026thinsp;0.031). In contrast, when adjusting for all other variables, increasing body image score was associated with increased sexual pleasure (OR 5.70; 95% CI 3.19, 10.18; p\u0026thinsp;\u0026lt;\u0026thinsp;0.001), decreased discomfort (OR 0.81; 95% CI 0.67, 0.98; p\u0026thinsp;=\u0026thinsp;0.030), and increased sexual habit (OR 1.14; 95% CI 1.05, 1.22; p\u0026thinsp;\u0026lt;\u0026thinsp;0.001).\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab3\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 3\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eFactors associated with sexual functioning\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"8\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c5\" colnum=\"5\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c6\" colnum=\"6\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c7\" colnum=\"7\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c8\" colnum=\"8\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c4\" namest=\"c3\"\u003e \u003cp\u003ePleasure\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c6\" namest=\"c5\"\u003e \u003cp\u003eDiscomfort\u003c/p\u003e \u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c8\" namest=\"c7\"\u003e \u003cp\u003eHabit\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eCategory\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eOdds Ratio (95% CI)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003ep-value\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eBRCA1/2\u003c/b\u003e \u003cb\u003estatus\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e negative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.514\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.759\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.034\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e positive\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.36 (0.53, 3.49)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e0.95 (0.70, 1.30)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e0.88 (0.77, 0.99)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eTime since genetic testing\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.09 (0.97, 1.23)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.129\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e0.98 (0.95, 1.02)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e0.365\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.00 (0.99, 1.02)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e0.538\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eAge (years)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.84 (0.76, 0.92)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e0.95 (0.91, 0.98)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e\u003cb\u003e0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e0.99 (0.97, 1.00)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e\u003cb\u003e0.031\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eEducation\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNot tertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.371\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.825\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.512\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.66 (0.27, 1.62)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.03 (0.77, 1.39)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e0.96 (0.85, 1.08)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eRelationship status (partnered)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.393\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.068\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.009\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.54 (0.13, 2.23)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.54 (0.97, 2.46)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e0.78 (0.64, 0.94)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eChildren\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.105\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.528\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.388\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.42 (0.15, 1.20)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.12 (0.80, 1.57)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e0.94 (0.82, 1.08)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eBody image\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e5.70 (3.19, 10.18)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e0.81 (0.67, 0.98)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\"\u003e \u003cp\u003e\u003cb\u003e0.030\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.14 (1.05, 1.22)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eRisk reducing mastectomy\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.366\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c6\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.911\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c8\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.478\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.57 (0.17, 1.92)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c5\"\u003e \u003cp\u003e1.02 (0.68, 1.52)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c7\"\u003e \u003cp\u003e1.06 (0.90, 1.25)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"8\"\u003e*Multivariate linear mean regression for pleasure, discomfort, and habit outcomes.\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e \u003cp\u003eBody image\u003c/p\u003e \u003cp\u003eBody image was higher for women who had a \u003cem\u003eBRCA1/2\u003c/em\u003e PV (OR 1.19; 95% CI 1.03, 1.36; p\u0026thinsp;=\u0026thinsp;0.015), were partnered (OR 1.19; 95% CI 1.02, 1.38; p\u0026thinsp;=\u0026thinsp;0.031), or were tertiary educated (OR 1.31; 95% CI 1.15, 1.49; p\u0026thinsp;\u0026lt;\u0026thinsp;0.001), adjusting for confounders (Table\u0026nbsp;\u003cspan refid=\"Tab4\" class=\"InternalRef\"\u003e4\u003c/span\u003e). There was no difference in body image observed between women who had and had not had a risk-reducing mastectomy.\u003c/p\u003e \u003cp\u003e \u003cdiv class=\"gridtable\"\u003e\u003ctable float=\"Yes\" id=\"Tab4\" border=\"1\"\u003e \u003ccaption language=\"En\"\u003e \u003cdiv class=\"CaptionNumber\"\u003eTable 4\u003c/div\u003e \u003cdiv class=\"CaptionContent\"\u003e \u003cp\u003eFactors associated with body image\u003c/p\u003e \u003c/div\u003e \u003c/caption\u003e \u003ccolgroup cols=\"4\"\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c1\" colnum=\"1\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c2\" colnum=\"2\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c3\" colnum=\"3\"\u003e\u003c/div\u003e \u003cdiv align=\"left\" class=\"colspec\" colname=\"c4\" colnum=\"4\"\u003e\u003c/div\u003e \u003cthead\u003e \u003ctr\u003e \u003cth align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colname=\"c2\"\u003e\u0026nbsp;\u003c/th\u003e \u003cth align=\"left\" colspan=\"2\" nameend=\"c4\" namest=\"c3\"\u003e \u003cp\u003eBody image\u003c/p\u003e \u003c/th\u003e \u003c/tr\u003e \u003c/thead\u003e \u003ctbody\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e\u0026nbsp;\u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eCategory\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e\u003cb\u003eOdds Ratio (95% CI)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e\u003cb\u003ep-value\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eBRCA1/2\u003c/b\u003e \u003cb\u003estatus\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e negative\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.015\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003e\u003cem\u003eBRCA\u003c/em\u003e positive\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.19 (1.03, 1.36)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eTime since genetic testing (years)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.99 (0.97, 1.00)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.122\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\"\u003e \u003cp\u003e\u003cb\u003eAge (years)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eContinuous\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.00 (0.99, 1.02)\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\"\u003e \u003cp\u003e0.646\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eRelationship status (partnered)\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.031\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.19 (1.02, 1.38)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eChildren\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e0.031\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.84 (0.73, 0.98)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eEducation\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNot tertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003e\u0026lt;\u0026thinsp;0.001\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eTertiary\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e1.31 (1.15, 1.49)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c1\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e\u003cb\u003eRisk-reducing mastectomy\u003c/b\u003e\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eNo\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003eReference\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c4\" morerows=\"1\" rowspan=\"2\"\u003e \u003cp\u003e0.088\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003ctr\u003e \u003ctd align=\"left\" colname=\"c2\"\u003e \u003cp\u003eYes\u003c/p\u003e \u003c/td\u003e \u003ctd align=\"left\" colname=\"c3\"\u003e \u003cp\u003e0.85 (0.72, 1.02)\u003c/p\u003e \u003c/td\u003e \u003c/tr\u003e \u003c/tbody\u003e \u003c/colgroup\u003e \u003ctfoot\u003e \u003ctr\u003e\u003ctd colspan=\"4\"\u003e*Multivariate linear mean regression for body image outcome.\u003c/td\u003e\u003c/tr\u003e \u003c/tfoot\u003e \u003c/table\u003e\u003c/div\u003e \u003c/p\u003e"},{"header":"DISCUSSION","content":"\u003cp\u003eIn this cohort of young women who had predictive testing, a positive result for a PV in \u003cem\u003eBRCA1/2\u003c/em\u003e was found to correlate with an increase in subsequent childbearing compared to those who tested negative. Women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV were more likely to have a greater number of children by the age of 40 years. These findings corroborate prior observations of women\u0026rsquo;s perceptions of an \u0026ldquo;increased temporal pressure\u0026rdquo; [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e] to have children due a \u003cem\u003eBRCA1/2\u003c/em\u003e PV and demonstrates that these intentions are translated into measurable differences in behaviour. This highlights the need to explore reproductive intentions during genetic counselling when women are receiving positive \u003cem\u003eBRCA1/2\u003c/em\u003e test results as they are likely to reassess their personal timeline for childbearing while also weighing decisions about cancer risk management strategies. This increased rate of childbearing for women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV may be responding to the recommendation to reduce ovarian cancer risk via bilateral salpingo-oophorectomy once childbearing is complete [\u003cspan citationid=\"CR15\" class=\"CitationRef\"\u003e15\u003c/span\u003e]. Importantly, these findings demonstrate that women\u0026rsquo;s family formation is not inhibited by their \u003cem\u003eBRCA1/2\u003c/em\u003e status, which contrasts with prior indications that women would not have children due to the risk of passing on a PV [\u003cspan citationid=\"CR28\" class=\"CitationRef\"\u003e28\u003c/span\u003e].\u003c/p\u003e \u003cp\u003ePrevious research has found that women are concerned that a \u003cem\u003eBRCA1/2\u003c/em\u003e PV may jeopardise their ability to form intimate relationships due to the existential health threat of a future cancer diagnosis [\u003cspan citationid=\"CR29\" class=\"CitationRef\"\u003e29\u003c/span\u003e]. Further, women are concerned that any potential impact on body image caused by risk-reducing breast surgery may also impair sexual functioning and relationship development [\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e]. Reassuringly, our results found no evidence that \u003cem\u003eBRCA1/2\u003c/em\u003e status detrimentally impacts women\u0026rsquo;s ability to partner or their sexual functioning in the group as a whole. However, this study did not set out to examine the nuances of relationship experiences of young women and other research has found that while most women receive support from partners during the testing process, for some, the process can strain the relationship [\u003cspan citationid=\"CR30\" class=\"CitationRef\"\u003e30\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eEngagement and satisfaction with sexual activity is a psychosexual experience that positively contributes to quality of life [\u003cspan citationid=\"CR31\" class=\"CitationRef\"\u003e31\u003c/span\u003e]. The impact of having a \u003cem\u003eBRCA1/2\u003c/em\u003e PV and more specifically, uptake of risk-reducing breast surgery, upon women\u0026rsquo;s sexual functioning and satisfaction has been raised as a concern but has not been previously examined in detail in the relavant population of young women at high risk of cancer using a matched comparator group. Our findings identified no observed differences in women\u0026rsquo;s sexual functioning for those with and without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV. Fundamentally, the factors driving sexual experiences across all respondents were common to the general population where aging is associated with a decline in sexual function and body image correlates positively with sexual satisfaction [\u003cspan citationid=\"CR32\" class=\"CitationRef\"\u003e32\u003c/span\u003e, \u003cspan citationid=\"CR33\" class=\"CitationRef\"\u003e33\u003c/span\u003e].\u003c/p\u003e \u003cp\u003eDespite the magnitude of risk-reducing breast surgery and the potential for longer term impact on body image, it was reassuring there were no differences observed between the women who had risk-reducing breast surgery compared to those who did not. Body image has been shown to decline in the months after risk-reducing breast surgery but subsequently improves with time with recovery from surgery and completion of reconstruction [\u003cspan citationid=\"CR27\" class=\"CitationRef\"\u003e27\u003c/span\u003e, \u003cspan citationid=\"CR34\" class=\"CitationRef\"\u003e34\u003c/span\u003e, \u003cspan citationid=\"CR35\" class=\"CitationRef\"\u003e35\u003c/span\u003e]. Improvements in surgical techniques that achieve better cosmetic outcomes than previous decades may also be minimising impact on body image after risk-reducing breast surgery.\u003c/p\u003e \u003cp\u003eLimitations\u003c/p\u003e \u003cp\u003eA response rate for the survey was unable to be calculated as the survey link was shared via social media and so it is unknown how many eligible women were exposed to the survey information but did not respond. However, the number of survey respondents exceeded the required sample size based on the population estimate. There were no demographic questions included about gender, sexuality, or cultural or linguistic diversity and so the diversity of the study population is unable to be determined. It is known in Australia that individuals of non-European ancestries are underrepresented in the patient populations of the clinical genetics services due to access barriers for culturally or linguistically diverse individuals. This is likely to mean that the study participants are reflective of the same group and may not reflect the diversity of the Australian population.\u003c/p\u003e"},{"header":"CONCLUSIONS","content":"\u003cp\u003eReceiving a positive \u003cem\u003eBRCA1/2\u003c/em\u003e test result fundamentally changes the course of young women\u0026rsquo;s lives, not only through the need to consider the adoption of cancer risk management strategies, but also due the impact on reproductive timing and outcomes. Women\u0026rsquo;s perceived urgency to complete childbearing appears to be translated to an increased likelihood of having children after a positive predictive \u003cem\u003eBRCA1/2\u003c/em\u003e test and having more children compared to their same aged peers who received negative test results. This supports the need for developmentally-appropriate genetic counselling for women considering predictive \u003cem\u003eBRCA1/2\u003c/em\u003e testing and again at receipt of positive results to begin to support women\u0026rsquo;s preparation for the potential to fulfil a desire to complete their childbearing at an age younger than their peers.\u003c/p\u003e"},{"header":"Declarations","content":"\u003cp\u003e \u003ch2\u003eEthical approval:\u003c/h2\u003e \u003cp\u003e This research was performed in accordance with the Declaration of Helskini and received multi-site ethics approval from the Peter MacCallum Cancer Centre Human Research Ethics Committee (HREC/17/PMCC/284). Ethics approval was also granted by the Tasmanian Ethics Committee (protocol no. H0018312). Site governance was granted at ACT Health, Austin Health, Melbourne Health, NSW Local Area Health Service, PMCC, and King Edward Memorial Hospital, Western Australia. Informed consent was obtained from all participants.\u003c/p\u003e \u003c/p\u003e \u003cp\u003e \u003cstrong\u003eCompeting interests\u003c/strong\u003e \u003cp\u003eThe authors declare no competing interests.\u003c/p\u003e \u003c/p\u003e\u003ch2\u003eFunding:\u003c/h2\u003e \u003cp\u003eA/Prof Laura Forrest was awarded a postdoctoral fellowship from the National Breast Cancer Foundation, Australia (PF 14\u0026thinsp;\u0026minus;\u0026thinsp;009) to undertake this study.\u003c/p\u003e\u003ch2\u003eAcknowledgements:\u003c/h2\u003e \u003cp\u003eThe authors acknowledge Alexandra Lewis and Tess Schenberg for their assistance with the face validity testing. We also acknowledge and thank the women who completed the survey. We also thank Inherited Cancers Australia for their support sharing the study information with the community of women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV.\u003c/p\u003e\n\u003ch3\u003eData availability statement:\u003c/h3\u003e\n\u003cp\u003eThe dataset generated during and analysed during the current study are not publicly available to protect study participants\u0026rsquo; privacy.\u003c/p\u003e"},{"header":"References","content":"\u003col\u003e\u003cli\u003e\u003cspan\u003eKuchenbaecker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of Breast, Ovarian, and Contralateral Breast Cancer for BRCA1 and BRCA2 Mutation Carriers. JAMA. 2017;317(23):2402\u0026ndash;16.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLi S, Silvestri V, Leslie G, Rebbeck TR, Neuhausen SL, Hopper JL, et al. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants. 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Research electronic data capture (REDCap)--a metadata-driven methodology and workflow process for providing translational research informatics support. J Biomed Inform. 2009;42(2):377\u0026ndash;81.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eThirlaway K, Fallowfield L, Cuzick J. The Sexual Activity Questionnaire: a measure of women's sexual functioning. Qual Life Res. 1996;5(1):81\u0026ndash;90.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eGopie JP, Mureau MA, Seynaeve C, Ter Kuile MM, Menke-Pluymers MB, Timman R, et al. Body image issues after bilateral prophylactic mastectomy with breast reconstruction in healthy women at risk for hereditary breast cancer. Fam Cancer. 2013;12(3):479\u0026ndash;87.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eChan JL, Johnson LNC, Sammel MD, DiGiovanni L, Voong C, Domchek SM, et al. Reproductive Decision-Making in Women with BRCA1/2 Mutations. J Genet Couns. 2017;26(3):594\u0026ndash;603.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHoskins LM, Roy K, Peters JA, Loud JT, Greene MH. Disclosure of Positive BRCA1/2-Mutation Status in Young Couples: The Journey From Uncertainty to Bonding Through Partner Support. Families, systems \u0026amp; health: the journal of collaborative family healthcare. 2008;26(3):296\u0026ndash;316.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eManne S, Audrain J, Schwartz M, Main D, Finch C, Lerman C. Associations between relationship support and psychological reactions of participants and partners to BRCA1 and BRCA2 testing in a clinic-based sample. Ann Behav Med. 2004;28(3):211\u0026ndash;25.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eThomas HN, Thurston RC. A biopsychosocial approach to women's sexual function and dysfunction at midlife: A narrative review. Maturitas. 2016;87:49\u0026ndash;60.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eHayes R, Dennerstein L. The impact of aging on sexual function and sexual dysfunction in women: a review of population-based studies. J Sex Med. 2005;2(3):317\u0026ndash;30.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003ePujols Y, Seal BN, Meston CM. The association between sexual satisfaction and body image in women. J Sex Med. 2010;7(2 Pt 2):905\u0026ndash;16.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eLuque Suarez S, Olivares Crespo ME, Brenes Sanchez JM, Herrera de la Muela M. Immediate Psychological Implications of Risk-Reducing Mastectomies in Women With Increased Risk of Breast Cancer: A Comparative Study. Clin Breast Cancer. 2024;24(7):620\u0026ndash;9.\u003c/span\u003e\u003c/li\u003e \u003cli\u003e\u003cspan\u003eTorrisi C. Body Image in BRCA-Positive Young Women Following Bilateral Risk-Reducing Mastectomy: A Review of the Literature. Front Psychol. 2021;12:778484.\u003c/span\u003e\u003c/li\u003e\u003c/ol\u003e"}],"fulltextSource":"","fullText":"","funders":[],"hasAdminPriorityOnWorkflow":false,"hasManuscriptDocX":true,"hasOptedInToPreprint":true,"hasPassedJournalQc":"","hasAnyPriority":false,"hideJournal":false,"highlight":"","institution":"","isAcceptedByJournal":true,"isAuthorSuppliedPdf":false,"isDeskRejected":"","isHiddenFromSearch":false,"isInQc":false,"isInWorkflow":false,"isPdf":false,"isPdfUpToDate":true,"isWithdrawnOrRetracted":false,"journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false},"keywords":"Hereditary breast and ovarian cancer syndrome, women, young adult, sexual health, reproduction","lastPublishedDoi":"10.21203/rs.3.rs-6774023/v1","lastPublishedDoiUrl":"https://doi.org/10.21203/rs.3.rs-6774023/v1","license":{"name":"CC BY 4.0","url":"https://creativecommons.org/licenses/by/4.0/"},"manuscriptAbstract":"\u003cp\u003eThe experiences and outcomes for women identified with a \u003cem\u003eBRCA1/2\u003c/em\u003e pathogenic variant during young adulthood are qualitatively described but not well quantified. This study investigated the impact of \u003cem\u003eBRCA1/2\u003c/em\u003e status on women\u0026rsquo;s reproduction, intimate partner relationships, and sexual functioning. Australian women aged 18\u0026ndash;40 years who had predictive \u003cem\u003eBRCA1/2\u003c/em\u003e testing, received either a positive or negative result, and had no personal cancer history completed an online survey that used a case-control design. Outcome measures included childbearing, relationship status, and sexual functioning. 579 women participated (62.0% with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV; 38.0% without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV). More women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV had children compared to those who did not (49.0% \u003cem\u003ec.f.\u003c/em\u003e, 40.5%; p\u0026thinsp;=\u0026thinsp;0.045). \u003cem\u003eBRCA1/2\u003c/em\u003e status did not predict whether women were partnered at survey completion (Odds Ratio 1.20; 95% CI 0.80, 1.78) or their sexual functioning over the previous month (β-coefficient \u0026minus;\u0026thinsp;0.08; 95% CI -1.15, 0.98). Women with a \u003cem\u003eBRCA1/2\u003c/em\u003e PV were more likely to have children after genetic testing (OR 1.83: 95% CI 1.05, 3.21) and were more likely to have a greater number of children after genetic testing (β-coefficient 0.41; 95% CI 0.10, 0.73) compared to women without a \u003cem\u003eBRCA1/2\u003c/em\u003e PV, after adjustment for confounders. Receiving a positive predictive \u003cem\u003eBRCA1/2\u003c/em\u003e result is associated with increased likelihood of childbearing and having a greater number of children compared to receiving a negative predictive \u003cem\u003eBRCA1/2\u003c/em\u003e result. These findings contribute to the evidence-base to inform long-term follow-up for women after predictive \u003cem\u003eBRCA1/2\u003c/em\u003e testing.\u003c/p\u003e","manuscriptTitle":"Impact of BRCA1/2 status on young women’s sexual function, relationships, and reproduction after predictive genetic testing","msid":"","msnumber":"","nonDraftVersions":[{"code":1,"date":"2025-07-14 03:46:44","doi":"10.21203/rs.3.rs-6774023/v1","editorialEvents":[{"type":"communityComments","content":0},{"type":"decision","content":"revise","date":"2025-11-03T10:10:33+00:00","index":"","fulltext":""},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-10-29T08:46:56+00:00","index":2,"fulltext":"This content is not available."},{"type":"editorInvitedReview","content":"This content is not available.","date":"2025-10-19T09:18:39+00:00","index":3,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-10-09T10:35:24+00:00","index":3,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-10-03T06:49:36+00:00","index":2,"fulltext":"This content is not available."},{"type":"reviewerAgreed","content":"This content is not available.","date":"2025-07-22T13:01:31+00:00","index":1,"fulltext":"This content is not available."},{"type":"reviewersInvited","content":"","date":"2025-07-10T13:39:31+00:00","index":"","fulltext":""},{"type":"checksComplete","content":"","date":"2025-06-05T13:29:38+00:00","index":"","fulltext":""},{"type":"editorAssigned","content":"","date":"2025-05-29T07:38:12+00:00","index":"","fulltext":""},{"type":"submitted","content":"European Journal of Human Genetics","date":"2025-05-29T07:38:11+00:00","index":"","fulltext":""}],"status":"published","journal":{"display":true,"email":"[email protected]","identity":"european-journal-of-human-genetics","isNatureJournal":false,"hasQc":false,"allowDirectSubmit":false,"externalIdentity":"ejhg","sideBox":"Learn more about [European Journal of Human Genetics](http://www.nature.com/ejhg/)","snPcode":"41431","submissionUrl":"https://mts-ejhg.nature.com/cgi-bin/main.plex","title":"European Journal of Human Genetics","twitterHandle":"@ejhg_journal","acdcEnabled":true,"dfaEnabled":true,"editorialSystem":"ejp","reportingPortfolio":"Nature AJ","inReviewEnabled":true,"inReviewRevisionsEnabled":false}}],"origin":"","ownerIdentity":"dd012e0f-49f2-453a-a162-f38385e6c76f","owner":[],"postedDate":"July 14th, 2025","published":true,"recentEditorialEvents":[],"rejectedJournal":[],"revision":"","amendment":"","status":"published-in-journal","subjectAreas":[{"id":51344168,"name":"Biological sciences/Cancer/Cancer prevention"},{"id":51344169,"name":"Biological sciences/Cancer/Cancer genetics"},{"id":51344170,"name":"Scientific community and society/Social sciences/Psychology/Human behaviour"},{"id":51344171,"name":"Health sciences/Health care/Quality of life"}],"tags":[],"updatedAt":"2026-01-04T08:05:28+00:00","versionOfRecord":{"articleIdentity":"rs-6774023","link":"https://doi.org/10.1038/s41431-025-02010-9","journal":{"identity":"european-journal-of-human-genetics","isVorOnly":false,"title":"European Journal of Human Genetics"},"publishedOn":"2026-01-03 05:00:00","publishedOnDateReadable":"January 3rd, 2026"},"versionCreatedAt":"2025-07-14 03:46:44","video":"","vorDoi":"10.1038/s41431-025-02010-9","vorDoiUrl":"https://doi.org/10.1038/s41431-025-02010-9","workflowStages":[]},"version":"v1","identity":"rs-6774023","journalConfig":"researchsquare"},"__N_SSP":true},"page":"/article/[identity]/[[...version]]","query":{"redirect":"/article/rs-6774023","identity":"rs-6774023","version":["v1"]},"buildId":"8U1c8b4HqxoKbykW_rLl7","isFallback":false,"isExperimentalCompile":false,"dynamicIds":[84888],"gssp":true,"scriptLoader":[]}

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