Unveiling New Breast Cancer Genes: Exome Sequencing and Blood Test Reveal Significant Risk Factors

A meta-analysis of three large whole-exome sequencing datasets identified associations between protein-truncating variants (PTVs) and breast cancer risk for six known susceptibility genes (ATM, BRCA1, BRCA2, CHEK2, PALB2, and MAP3K1) at exome-wide significance. Associations were also observed for PTVs in LZTR1, ATR, and BARD1. Additionally, associations between predicted deleterious rare missense or PTVs and breast cancer were identified for CDKN2A at exome-wide significance. The overall contribution of coding variants in genes beyond the previously known genes is estimated to be small.