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BRCA Mutations and Survival Outcome in Young-onset Breast Cancer | PSM | Nonprofit Scientific Publishing
EDITORIAL BRCA1/2 mutations are the most common germline mutations, accounting for up to 40% of familial breast cancer (Shuen and Foulkes, 2011). BRCA1 and BRCA2 are tumor suppressor genes identified in the early 1990s(Hall et al., 1992; Lenoir et al., 1991). BRCA1 mutation was found in 7% of patients at the time of breast cancer diagnosis in a large analysis including 3,345 patients who were aged ≤50 years. However, BRCA1 carriers were significantly younger (mean age 41.9 versus 44.1, P < 0.001), and had more ER-negative (84.1% versus 38.1%, P < 0.001) and HER2-negative (93% versus 79%, P < 0.001) tumors (Huzarski et al., 2013). The high BRCA1 mutation signature expression is consistent with the relatively high prevalence of BRCA1 mutations in younger patients(Huzarski et al., 2013; Young et al., 2009). Patients with BRCA1 mutations are generally diagnosed with basal-like tumors(Criscitiello et al., 2012); earlier work proposed that luminal progenitors appear to be the cell