Gene analysis techniques and susceptibility gene discovery in non-BRCA1/BRCA2 familial breast cancer

Breast cancer is the leading cause of cancer deaths in females worldwide occurring in both hereditary and sporadic forms. Women with inherited pathogenic mutations in the BRCA1 or BRCA2 genes have up to an 85% risk of developing breast cancer in their lifetimes. These patients are candidates for risk-reduction measures such as intensive radiological screening, prophylactic surgery or chemoprevention. However, only about 20% of familial breast cancer cases are attributed to mutations in BRCA1 and BRCA2, while a further 5-10% are attributed to mutations in other rare susceptibility genes such as TP53, STK11, PTEN, ATM and CHEK2.

Source: Surgical Oncology - April 13, 2015 Category: Surgery Authors: Fatima Aloraifi, Michael R. Boland, Andrew J. Green, James G. Geraghty Source Type: research