Article

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

2024-09-04

Abstract excerpt

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 rat...

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Literature Corpus work: 76941061-b610-5a6d-97b8-b6a8f0b1acfb
DOI: 10.1101/2024.09.04.24313051

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