Review Article Hereditary Breast Cancer: The Era of New Susceptibility Genes

License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Breast cancer is the most common malignancy among females. 5%–10 % of breast cancer cases are hereditary and are caused by pathogenic mutations in the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes have been discovered and BRCA1 and BRCA2 predisposition seems to be only a part of the story. These new findings include rare germline mutations in other high penetrant genes, the most important of which include TP53 mutations in Li-Fraumeni syndrome, STK11mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations have been identified in families with breast cancer clustering, in moderate or low penetrant genes, such asCHEK2,ATM, PALB2, and BRIP1.This paper will summarize all current data on new findings in breast cancer susceptibility genes. 1