Pathogenic and likely pathogenic variants in <i>PALB2</i> , <i>CHEK2</i> , and other known breast cancer susceptibility genes among 1054 <i>BRCA</i> ‐negative Hispanics with breast cancer

Abstract

Of 1054 BRCA-negative, high-risk Hispanic women, 4.5% carried a PV in a cancer susceptibility gene, increasing understanding of hereditary BC in this population. Recurrent PVs in PALB2 and CHEK2 represented 47% (23 of 49) of the total, suggesting a founder effect. Accurate classification of variants was enabled by carefully controlling for ancestry and the increased identification of at-risk Hispanics for screening and prevention.