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Cancer Risks Associated with Inherited Mutations in Ovarian Cancer Susceptibility Genes Beyond BRCA1 and BRCA2

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Technical Report,15 Apr 2015,14 Apr 2016

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University of Washington Seattle United States

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Ovarian, peritoneal and fallopian tube carcinomas OC are the most deadly of the gynecological cancers and can be considered together as one entity. While women with early stage OC have an excellent chance of cure, attempts to improve early detection have been largely ineffective. In contrast to surveillance, surgical prophylaxis with risk-reducing salpingo-oophorectomy RRSO reduces OC mortality in high risk women. Inherited mutations in BRCA1 and BRCA2 BRCA12 account for about 15 percent of OC. Inherited loss of function mutations in other related genes account for another 5-6 percent of cases, but less is understood about the OC risk associated with mutations in these genes. Furthermore, there are other OC genes that have not yet been discovered. Our hypothesis is that rare, inherited, damaging mutations in genes other than BRCA12 confer a relatively high cancer risk that would warrant age appropriate surgical prophylaxis. A better understanding of the etiologic contribution from, and penetrance of, genes other than BRCA12 to hereditary OC is needed to guide clinical decision-making and to optimize recommendations for OC prevention. Our overall goal is to refine the understanding of inherited OC susceptibility, emphasizing genetic variation in diverse racial populations and genes other than BRCA1 and BRCA2.

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  • Medicine and Medical Research

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