Summary of BARD1 Mutations and Precise Estimation of Breast and Ovarian Cancer Risks Associated with the Mutations.
作者： Malwina Suszynska , Piotr Kozlowski
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摘要: Over the last two decades, numerous BARD1 mutations/pathogenic variants (PVs) have been found in patients with breast cancer (BC) and ovarian (OC). However, their role BC OC susceptibility remains controversial, strong evidence-based guidelines for carriers are not yet available. Herein, we present a comprehensive catalog of PVs identified large cumulative cohorts ~48,700 ~20,800 cases (retrieved from 123 studies examining whole coding sequence BARD1). Using these resources, compared frequency ~134,100 controls gnomAD database estimated effect on risks. The analysis revealed that is moderate-risk gene (odds ratio (OR) = 2.90, 95% CIs:2.25-3.75, p < 0.0001) but an risk (OR 1.36, CIs:0.87-2.11, 0.1733). In addition, mutational spectrum outlined this study allowed us to determine recurrent evaluate variant-specific most frequent PVs. conclusion, precise estimates improve understanding predisposition support need diagnostic testing patients.
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