Contralateral breast cancer risk among carriers of germline pathogenic variants in ATM, BRCA1/2, CHEK2, and PALB2

Dr. Siddhartha Yadav

Prospective follow-up of 15,104 women in the CARRIERS study treated with surgery for invasive breast cancer showed that carriers of pathogenic variants in BRCA1, BRCA2, or CHEK2 were at substantially increased risk of contralateral breast cancer (HR > 1.9). Among patients with estrogen receptor-negative breast cancer only carriers of PALB2 pathogenic variants were at elevated CBC risk (HR 2.9). Age at diagnosis, menopausal status, and estrogen receptor status of the initial breast cancer significantly influenced the CBC risk in carriers of pathogenic variants.