Analysis of more than 400,000 women provides case-control evidence for <i>BRCA1</i> and <i>BRCA2</i> variant classification.

ABSTRACT: Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS, and previous findings indicate that case-control likelihood ratios (LRs) outperform odds ratios for variant classification. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyzed germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 303,925 unaffected controls from three studies: the BRIDGES study of the Breast Cancer Association Consorti

SUBMITTER: Zanti M 

PROVIDER: S-EPMC11398439 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature