Domain-Level Distribution of Pathogenic BRCA1/2 Somatic Mutations Shows No Evidence of Large Subtype-Specific Enrichment in Breast Cancer: A Three-Cohort Analysis Supporting Broad BRCA Testing.

Abstract excerpt

Background: Pathogenic BRCA1 and BRCA2 mutations confer a homologous recombination deficiency that underlies PARP inhibitor sensitivity. While BRCA1 mutation carriers more frequently develop triple-negative breast cancer (TNBC) and BRCA2 carriers hormone receptor-positive (HR+) disease, whether the specific protein domain harboring a pathogenic somatic mutation differs systematically between breast cancer...

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