Scientists have identified two genes that are newly linked to ovarian cancer, bringing the total number of inherited susceptibility genes to 11.
Ovarian carcinoma has the highest mortality risk of all gynaecological cancers, say Dr Barbara Norquist and colleagues at the University of Washington, Seattle, USA, in today’s (30 December) JAMA Oncology.
They believe: "Identifying genetic predisposition offers opportunities for cancer prevention." The team aimed to discover the rate of mutations in known or suspected ovarian cancer susceptibility genes.
They used figures on 1,915 patients with ovarian cancer (classed as ovarian, peritoneal, and fallopian tube carcinoma), and comprehensively sequenced their genes from tissue samples.
This showed that overall, 18% carried disease-causing mutations in genes associated with ovarian cancer risk. These included two new suspected genes, PALB2 and BARD1, as well as the established ovarian cancer genes BRCA1, BRCA2, BRIP1, RAD51C, RAD51D, MSH2, MLH1, PMS2, and MSH6.
In this study, 80% of the mutations were in BRCA1 and BRCA2. Among the participants, "Mutation status influenced both progression-free and overall survival, and should be considered when interpreting results and designing future trials," the authors write.
Commenting on the study, Dr Elena Stoffel of the University of Michigan, USA, writes: "Cancers arise from accumulated genetic and epigenetic alterations that dysregulate cellular pathways and processes.
"The full 11 genes should be considered suspected hereditary ovarian cancer genes," she adds, and "the recommendation by the National Comprehensive Cancer Network that all women with ovarian cancer undergo genetic testing for germline mutations in BRCA1 and BRCA2 is clearly justified."
Norquist, B. M. et al. Inherited Mutations in Women With Ovarian Carcinoma. JAMA Oncology 30 December 2015 doi:10.1001/jamaoncol.2015.5495
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