Literature DB >> 28954295

Risk of Serous Endometrial Carcinoma in Women With Pathogenic BRCA1/2 Variant After Risk-Reducing Salpingo-Oophorectomy.

Claire Saule1, Emmanuelle Mouret-Fourme1, Adrien Briaux1, Véronique Becette1, Roman Rouzier1, Claude Houdayer1, Dominique Stoppa-Lyonnet1.   

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.
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Year:  2018        PMID: 28954295     DOI: 10.1093/jnci/djx159

Source DB:  PubMed          Journal:  J Natl Cancer Inst        ISSN: 0027-8874            Impact factor:   13.506


  7 in total

Review 1.  Antioxidative, Anti-Inflammatory, Anti-Obesogenic, and Antidiabetic Properties of Tea Polyphenols-The Positive Impact of Regular Tea Consumption as an Element of Prophylaxis and Pharmacotherapy Support in Endometrial Cancer.

Authors:  Piotr Olcha; Anna Winiarska-Mieczan; Małgorzata Kwiecień; Łukasz Nowakowski; Andrzej Miturski; Andrzej Semczuk; Bożena Kiczorowska; Krzysztof Gałczyński
Journal:  Int J Mol Sci       Date:  2022-06-16       Impact factor: 6.208

Review 2.  Endometrial Cancer and BRCA Mutations: A Systematic Review.

Authors:  Maria Luisa Gasparri; Serena Bellaminutti; Ammad Ahmad Farooqi; Ilaria Cuccu; Violante Di Donato; Andrea Papadia
Journal:  J Clin Med       Date:  2022-05-31       Impact factor: 4.964

3.  Germline pathogenic variants in PALB2 and other cancer-predisposing genes in families with hereditary diffuse gastric cancer without CDH1 mutation: a whole-exome sequencing study.

Authors:  Eleanor Fewings; Alexey Larionov; James Redman; Mae A Goldgraben; James Scarth; Susan Richardson; Carole Brewer; Rosemarie Davidson; Ian Ellis; D Gareth Evans; Dorothy Halliday; Louise Izatt; Peter Marks; Vivienne McConnell; Louis Verbist; Rebecca Mayes; Graeme R Clark; James Hadfield; Suet-Feung Chin; Manuel R Teixeira; Olivier T Giger; Richard Hardwick; Massimiliano di Pietro; Maria O'Donovan; Paul Pharoah; Carlos Caldas; Rebecca C Fitzgerald; Marc Tischkowitz
Journal:  Lancet Gastroenterol Hepatol       Date:  2018-04-27

4.  Recurrent uterine serous carcinoma with a germline pathogenic BRCA2 variant treated using olaparib: A case report.

Authors:  Kayo Inoue; Hiroshi Tsubamoto; Tomoko Ueda; Chihiro Tajima; Nami Nakagomi
Journal:  Gynecol Oncol Rep       Date:  2020-04-05

Review 5.  Risk-reducing bilateral salpingo-oophorectomy in women with BRCA1 or BRCA2 mutations.

Authors:  George U Eleje; Ahizechukwu C Eke; Ifeanyichukwu U Ezebialu; Joseph I Ikechebelu; Emmanuel O Ugwu; Onyinye O Okonkwo
Journal:  Cochrane Database Syst Rev       Date:  2018-08-24

6.  From BRCA1 to Polygenic Risk Scores: Mutation-Associated Risks in Breast Cancer-Related Genes.

Authors:  Emma R Woodward; Elke M van Veen; D Gareth Evans
Journal:  Breast Care (Basel)       Date:  2021-03-31       Impact factor: 2.860

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

Authors:  Sarah J Kitson; Cemsel Bafligil; Neil A J Ryan; Fiona Lalloo; Emma R Woodward; Richard D Clayton; Richard J Edmondson; James Bolton; Emma J Crosbie; D Gareth Evans
Journal:  Eur J Cancer       Date:  2020-07-19       Impact factor: 9.162

  7 in total

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