Geni di suscettibilità al carcinoma ereditario della mammella

AUTORI

ABSTRACT

Hereditary breast cancer susceptibility genes

Hereditary breast cancers account for about 10% of all breast cancers. Nevertheless, the early and correct identification of these forms is crucial for patients’ management and risk evaluation. BRCA1 and BRCA2 are well-established susceptibility genes whose pathogenic variants are related to an increased lifetime risk of developing breast and ovarian cancers. Specific surveillance programs and therapeutic options are currently available for BRCA mutations carriers, so that BRCA genes molecular analysis for germline pathogenic variants identification has become a routine step in breast cancer patients’ management. However, BRCA1/2 pathogenic variants can be identified just in a fraction of the hereditary breast cancers. This prompted the search for other genetic risk factors with the identification of additional breast cancer susceptibility genes. Here, we review the breast cancer susceptibility genes other than BRCA1/2 that, to date, have been found to be related to a significant increased risk of breast cancer and whose analysis, according to international guidelines, should be considered as second-level test in patients with a suspicion of a hereditary breast cancer without pathogenic variants identified in the BRCAs.

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