Hereditary Ovarian Cancer and Risk Reduction

Lesley Andrews, David G. Mutch

Research output: Contribution to journalReview articlepeer-review

39 Scopus citations


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.

Original languageEnglish
Pages (from-to)31-48
Number of pages18
JournalBest Practice and Research: Clinical Obstetrics and Gynaecology
StatePublished - May 2017


  • BRCA1
  • BRCA2
  • hereditary ovarian cancer
  • risk-reducing salpingo-oophorectomy


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