Scott RJ

ORCID: 0000-0001-7724-3404 · 9 papers in corpus
2024
Germline copy number variants and endometrial cancer risk.
Human genetics ·doi:10.1007/s00439-024-02707-9

Known risk loci for endometrial cancer explain approximately one third of familial endometrial cancer. However, the association of germline copy number variants (CNVs) with endometrial cancer risk remains relatively unknown. We conducted a …

review 2018
Genetic overlap between endometriosis and endometrial cancer: evidence from cross‐disease genetic correlation and GWAS meta‐analyses
Cancer medicine ·doi:10.1002/cam4.1445

Abstract Epidemiological, biological, and molecular data suggest links between endometriosis and endometrial cancer, with recent epidemiological studies providing evidence for an association between a previous diagnosis of endometriosis and…

2018
Identification of nine new susceptibility loci for endometrial cancer.
Nature communications ·doi:10.1038/s41467-018-05427-7

Endometrial cancer is the most commonly diagnosed cancer of the female reproductive tract in developed countries. Through genome-wide association studies (GWAS), we have previously identified eight risk loci for endometrial cancer. Here, we…

2015
Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk.
Human molecular genetics ·doi:10.1093/hmg/ddu552

Common variants in the hepatocyte nuclear factor 1 homeobox B (HNF1B) gene are associated with the risk of Type II diabetes and multiple cancers. Evidence to date indicates that cancer risk may be mediated via genetic or epigenetic effects …

article 2015
Genetic burden associated with varying degrees of disease severity in endometriosis
Molecular human reproduction ·doi:10.1093/molehr/gav021

Endometriosis is primarily characterized by the presence of tissue resembling endometrium outside the uterine cavity and is usually diagnosed by laparoscopy. The most commonly used classification of disease, the revised American Fertility S…

2015
Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families.
Hereditary cancer in clinical practice ·doi:10.1186/s13053-015-0025-2

BackgroundOver half the cancer deaths in HNPCC families are due to extra-colonic malignancies that include endometrial and ovarian cancers. The benefits of surveillance for gynecological cancers are not yet proven and there is no consensus …

review 2014
Association between endometriosis and the interleukin 1A (IL1A) locus
Human Reproduction ·doi:10.1093/humrep/deu267

STUDY QUESTION: Are single-nucleotide polymorphisms (SNPs) at the interleukin 1A (IL1A) gene locus associated with endometriosis risk? SUMMARY ANSWER: We found evidence for strong association between IL1A SNPs and endometriosis risk. WHAT I…

review 2012
Genome-wide association meta-analysis identifies new endometriosis risk loci
Nature genetics ·doi:10.1038/ng.2445

We conducted a genome-wide association meta-analysis of 4,604 endometriosis cases and 9,393 controls of Japanese and European ancestry. We show that rs12700667 on chromosome 7p15.2, previously found to associate with disease in Europeans, r…

2010
Toll-like receptor (TLR) and nucleosome-binding oligomerization domain (NOD) gene polymorphisms and endometrial cancer risk.
BMC cancer ·doi:10.1186/1471-2407-10-382

BackgroundEndometrial cancer is the most common gynaecological malignancy in women of developed countries. Many risk factors implicated in endometrial cancer trigger inflammatory events; therefore, alterations in immune response may predisp…