There were two large studies published early last year that evaluated which genes raise risks for breast cancer, including breast cancer patients from many centers worldwide, representing the largest available datasets to look at this question. These efforts were led by the worldwide Breast Cancer Association Consortium (BCAC)1 and the United States-based CARRIERS consortium. The BCAC study was based on 113,000 women tested for 34 inherited cancer genes, while CARRIERS reported on 64,000 women tested for 28 inherited cancer genes. Significant associations were reported for 8 genes in both studies (BRCA1, BRCA2, PALB2, BARD1, RAD51C, RAD51D, ATM, and CHEK2), while only the BCAC study reported an association with MSH6 and only CARRIERS reported an association with CDH1. Both TP53 and PTEN, which are established breast cancer predisposing genes, did not have significant associations presumably because the mutation prevalence for each of the genes is so low.
1Breast Cancer Association Consortium et al. N Engl J Med. 2021; 384(5):428-439. PMID: 33471991;
2Huet al. N Engl J Med. 2021;384(5):440-451. PMID: 33471974.