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BRCA Focus in Ovarian Cancer Turns to Preventive Testing for Inherited Mutations

Lisa Astor
Published: Thursday, Dec 13, 2018
Douglas A. Levine, MD

Douglas A. Levine, MD
The frequency of hereditary mutations that convey an increased risk of ovarian cancer suggests that many cases of the disease are preventable, according to Douglas A. Levine, MD.

In an analysis of genomic sequencing in 390 patients with ovarian carcinomas, germline or somatic mutations in homologous recombination genes were identified in 31% of cases; 24% were deleterious germline mutations, and 9% were somatic mutations.1 These mutations included one or more of 13 homologous recombination genes, most notably BRCA1/2. Additionally, the rates were similar across both serous and nonserous histologies.

A second study looked at mutational frequency in 1915 cases of ovarian carcinoma and found that 18.1% of patients with ovarian cancer are carriers of germline mutations in genes associated with increased risk for ovarian cancer (Table).2 Specifically, 14.6% of patients had mutations in BRCA1/2.
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