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Medical News & Perspectives
March 20, 2019

Quick Uptakes: Taking the Uncertainty Out of Interpreting BRCA Variants

JAMA. 2019;321(14):1340-1341. doi:10.1001/jama.2019.0967

Interpreting genetic variants detected in BRCA1 and BRCA2 tests can be challenging. To help demystify the process, an international collaboration has developed a resource that may help guide clinical decision-making. Details of their work appeared recently in PLOS Genetics.

Testing for BRCA1 and BRCA2 mutations identifies both benign and pathogenic genetic variants. But information about specific variants, particularly those of uncertain clinical significance (VUS), often isn’t systematically curated, expertly reviewed, or easily searchable. In addition, different laboratories sometimes interpret test results differently.

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