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Large-scale meta-analysis of mutations identified in panels of breast/ovarian cancer-related genes — Providing evidence of cancer predisposition genes

Gynecologic Oncology Apr 29, 2019

Suszynska M, et al. - Researchers conducted a comprehensive meta-analysis of 48 multi-gene panel (MGP)-based studies examining breast cancer (BC)/ovarian cancer (OC) cases to determine a firm BC and OC risk correlated with pathogenic variants in the selected 37 candidate BC/OC predisposition genes. They observed that 13 and 11 of the analyzed genes were significantly correlated with an elevated BC and OC risk, respectively, by characterizing the strategies of MGP analyses and the types and localization of the classified mutations. They noticed similar risk attributed to some of the genes like CDKN2A and PALB2 for BC, to that observed for BRCA2. Including genes like RAD51C and RAD51D, specifically linked with a high risk of OC, a visible difference was reported in the profile of genes contributing to either BC or OC risk.
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