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Article

Value of the loss of heterozygosity to BRCA1 variant classification

At least 10% of the BRCA1/2 tests identify variants of uncertain significance (VUS) while the distinction between pathogenic variants (PV) and benign variants (BV) remains particularly challenging. As a typical t...

Elizabeth Santana dos Santos, Amanda B. Spurdle, Dirce M. Carraro… in npj Breast Cancer (2022)