Hereditary Breast Cancer Top Journals

Breast cancer is that the commonest malignancy among females. 5%–10% of carcinoma cases are hereditary and are caused by pathogenic mutations within the considered reference BRCA1 and BRCA2 genes. As sequencing technologies evolve, more susceptible genes are discovered and BRCA1 and BRCA2 predisposition seems to be only a neighborhood 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, STK11 mutations in Peutz-Jeghers syndrome, and PTEN mutations in Cowden syndrome. Furthermore, more frequent, but less penetrant, mutations are identified in families with carcinoma clustering, in moderate or low penetrant genes, like CHEK2, ATM, PALB2, and BRIP1. This paper will summarize all current data on new findings in carcinoma susceptibility genes.

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