BRCA1 and BRCA2 pathogenic variant carriers and endometrial cancer risk: A cohort study.

European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)
Sarah J KitsonD Gareth Evans

Abstract

An association between BRCA pathogenic variants and an increased endometrial cancer risk, specifically serous-like endometrial cancer, has been postulated but remains unproven, particularly for BRCA2 carriers. Mechanistic evidence is lacking, and any link may be related to tamoxifen exposure or testing bias. Hysterectomy during risk-reducing bilateral salpingo-oophorectomy is, therefore, of uncertain benefit. Data from a large, prospective cohort will be informative. Data on UK BRCA pathogenic variant carriers were interrogated for endometrial cancer diagnoses. Standardised incidence ratios (SIRs) were calculated in four distinct cohorts using national endometrial cancer rates; either from 1/1/1980 or age 20, prospectively from date of personal pathogenic variant report, date of family pathogenic variant report or date of risk-reducing salpingo-oophorectomy. Somatic BRCA sequencing of 15 serous endometrial cancers was performed to detect pathogenic variants. Fourteen cases of endometrial cancer were identified in 2609 women (1350 BRCA1 and 1259 BRCA2), of which two were prospectively diagnosed. No significant increase in either overall or serous-like endometrial cancer risk was identified in any of the cohorts examined (SIR = 1...Continue Reading

Citations

Mar 13, 2021·Journal of the National Cancer Institute·Marthe M de JongeChristi J van Asperen
May 20, 2021·American Journal of Clinical Oncology·Steven Lehrer, Peter H Rheinstein
Sep 22, 2021·Revista brasileira de ginecologia e obstetrícia : revista da Federação Brasileira das Sociedades de Ginecologia e Obstetrícia·Jesus Paula CarvalhoWalquíria Quida Salles Pereira Primo
Oct 13, 2021·European Journal of Medical Genetics·Nihat Bugra Agaoglu, Levent Doganay

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Methods Mentioned

BETA
hysterectomy
hormone replacement therapy

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