Hereditary Ovarian Cancer and Risk Reduction

被引：39

作者：

Andrews, Lesley ^{[1
]}

Mutch, David G. ^{[2
]}

机构：

[1] Prince Wales Hosp, Hereditary Canc Clin, Randwick, NSW 2031, Australia

[2] Washington Univ, Sch Med, Gynecol, Gynecol Oncol, St Louis, MO USA

来源：

BEST PRACTICE & RESEARCH CLINICAL OBSTETRICS & GYNAECOLOGY | 2017年 / 41卷

关键词：

hereditary ovarian cancer; risk-reducing salpingo-oophorectomy; BRCA1; BRCA2; REDUCING SALPINGO-OOPHORECTOMY; BREAST-CANCER; GERMLINE MUTATIONS; SEROUS CARCINOMA; FALLOPIAN-TUBE; PROPHYLACTIC OOPHORECTOMY; INTRAEPITHELIAL CARCINOMA; CONFER SUSCEPTIBILITY; FAMILY-HISTORY; LYNCH SYNDROME;

D O I：

10.1016/j.bpobgyn.2016.10.017

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

Mutations in BRCA1 and BRCA2 account for hereditary breast and ovarian cancer syndrome in a majority of families and 14% of epithelial ovarian cancer cases. Despite next-generation sequencing, other identified genes (Lynch Syndrome, RAD51C, RAD51D, and BRIP1) account for only a small proportion of cases. The risk of ovarian cancer by age 70 is approximately 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high-grade serous cancers that predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcomes, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by hormone replacement therapy (HRT). Specimens should be carefully examined for occult malignancy. Mutation carriers may benefit from newly developed poly ADP ribose polymerase inhibitors. Genetic testing should only be performed after careful counseling, particularly if testing involves the testing of panels of genes that may identify unsuspected disease predisposition or confusing variants of uncertain significance. (C) 2017 Published by Elsevier Ltd.

引用

页码：31 / 48

页数：18

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