Addition of triple negativity of breast cancer as an indicator for germline mutations in predisposing genes increases sensitivity of clinical selection criteria
BMC Cancer Oct 01, 2018
Hoyer J, et al. - A germline panel-based screening was performed among all 229 female individuals with triple-negative breast cancers (TNBC) at a single center over a period of 54 months to examine whether mutations in other genes are involved in cancer development and whether TNBC is an additional indicator of mutational status besides family history and age of onset. This study provided confirmatory evidence and expand previous studies of a high frequency of germline mutations in genes related to ineffective repair of DNA damage in women with TNBCs. Findings revealed that neither age of onset < 50 years, contralateral disease nor family history were able to discern all mutation positive individuals, suggesting that TNBC should be considered as an independent criterion for genetic testing.
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