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- Title
Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.
- Authors
Saule, Claire; Mouret-Fourme, Emmanuelle; Briaux, Adrien; Becette, Véronique; Rouzier, Roman; Houdayer, Claude; Stoppa-Lyonnet, Dominique
- Abstract
It has recently been shown that the risk of a rare subtype of endometrial carcinoma (serous type) in women carrying a germline BRCA1/2 pathogenic variant is increased. We assessed the incidence of serous endometrial carcinoma in an independent prospective cohort study of 369 BRCA1/2 women (1779 woman-years of follow-up) who underwent risk-reducing salpingo-oophorectomy by laparoscopy. This occurrence in two BRCA1 carriers led us to estimate that BRCA1/2 carriers present a higher risk than the control population (standardized incidence ratio = 32.2, 95% confidence interval = 11.5 to 116.4, P < .001, two-sided chi-square test, 1 degree of freedom). In addition, in both tumors, the wild-type BRCA1 allele was lost, indicating the inactivation of the BRCA1 gene and arguing for a link with endometrial carcinogenesis. Prophylactic hysterectomy could be discussed with informed women through a shared decision-making process although the estimated 3% life-long risk is moderate. Additional studies are required to establish future prophylactic surgery guidelines.
- Subjects
TUMOR prevention; DISEASE susceptibility; LONGITUDINAL method; GENETIC mutation; OVARIECTOMY; PROTEINS; TUMORS; BRCA genes; ENDOMETRIAL tumors; SALPINGECTOMY; PREVENTION
- Publication
JNCI: Journal of the National Cancer Institute, 2018, Vol 110, Issue 2, p1
- ISSN
0027-8874
- Publication type
Article
- DOI
10.1093/jnci/djx159