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Saturday, January 21, 2017

Hereditary Ovarian Cancer and Risk Reduction

  Available online 17 January 2017

14% of epithelial ovarian cancer is due to mutations in BRCA1 or BRCA2.
The risk of ovarian cancer in a BRCA1/2 mutation carrier is 18-40%.
Screening for ovarian cancer is not proven to improve outcome.
Women at high risk are recommended risk-reducing salpingo-oophorectomy around age 40.
Careful examination of the specimen is required for occult malignancy requiring treatment.
Panel genetic testing is available but results of genes without clear management guidelines or variants of uncertain significance should be interpreted with caution.

Mutations in BRCA1 and BRCA2 account for the majority of families with hereditary breast and ovarian cancer syndrome, and account for 14% of epithelial ovarian cancer. 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 around 40% for BRCA1 and 18% for BRCA2. Most of these cancers are high grade serous cancers which predominantly arise in the fimbriae of the fallopian tube. Ovarian screening does not improve outcome, so women at high risk are recommended to undergo risk-reducing salpingo-oophorectomy around the age of 40, followed by HRT. Specimens should be carefully examined for occult malignancy. Mutation carriers may benefit from newly developed PARP inhibitors. Genetic testing should only be done after careful counseling, particularly if testing involves testing of panels of genes which may identify unsuspected disease pre-disposition or confusing variants of uncertain significance.


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