Tischkowitz M

ORCID: 0000-0002-7880-0628 · 9 papers in corpus · active 2015-2025
2025
BMJ oncology ·doi:10.1136/bmjonc-2024-000574

ObjectivesTo investigate the association between bilateral salpingo-oophorectomy (BSO) and long-term health outcomes in women with a personal history of breast cancer.Methods and analysisWe used data on women diagnosed with invasive breast …

2024
British journal of cancer ·doi:10.1038/s41416-024-02851-z

BackgroundThe clinical validity of the multifactorial BOADICEA model for epithelial tubo-ovarian cancer (EOC) risk prediction has not been assessed in a large sample size or over a longer term.MethodsWe evaluated the model discrimination an…

2023
Journal of medical genetics ·doi:10.1136/jmg-2022-108898

Germline pathogenic variants (GPVs) in the cancer predisposition genes BRCA1, BRCA2, MLH1, MSH2, MSH6, BRIP1, PALB2, RAD51D and RAD51C are identified in approximately 15% of patients with ovarian cancer (OC). While there are clear guideline…

2022
Journal of medical genetics ·doi:10.1136/jmedgenet-2021-107904

BackgroundEpithelial tubo-ovarian cancer (EOC) has high mortality partly due to late diagnosis. Prevention is available but may be associated with adverse effects. A multifactorial risk model based on known genetic and epidemiological risk …

2022
European journal of human genetics : EJHG ·doi:10.1038/s41431-021-00987-7

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard…

2017
Oncotarget ·doi:10.18632/oncotarget.15871

We analyzed whole exome sequencing data in germline DNA from 412 high grade serous ovarian cancer (HGSOC) cases from The Cancer Genome Atlas Project and identified 5,517 genes harboring a predicted deleterious germline coding mutation in at…

2017
Nature genetics ·doi:10.1038/ng.3826

To identify common alleles associated with different histotypes of epithelial ovarian cancer (EOC), we pooled data from multiple genome-wide genotyping projects totaling 25,509 EOC cases and 40,941 controls. We identified nine new susceptib…

2016
Gynecologic Oncology ·doi:10.1016/j.ygyno.2015.04.034

ObjectiveClinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3' UTR microRNA binding site, based on suggested associations with increased ovarian and breast cancer risk as well as with …

2015
Nature genetics ·doi:10.1038/ng.3185

Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high risk of EOC. After…