Abstract
Triple‐negative breast cancer (TNBC) accounts for 15–20% of all newly diagnosed breast cancers, and is enriched for germline mutation of BRCA. In Asian patients diagnosed with breast cancer, 268 deleterious mutations of BRCA1 and 242 of BRCA2 have been identified so far, including a reported BRCA1 frameshift mutation (rs80350973), apparently found only in Asian people, with a low prevalence of 0.3–1.7% in different breast cancer cohorts. Here, we reported the high prevalence (7.2%) of rs80350973 among 125 Chinese patients with TNBC, which implies its mutational predilection for certain breast cancer subtypes. Although its low prevalence had not indicated any particular clinical significance in previous studies, our results associated rs80350973 mutation with cell checkpoint malfunction, and was found to be more common in TNBC patients with high Ki‐67 indices (P = 0.004). As Ki‐67 overexpression is a predictor of poor prognosis in TNBC, inclusion of this mutation into genetic assessments may improve the clinical management of Chinese patients with TNBC.
Highlights
Triple-negative breast cancer (TNBC) is defined by little or no expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2)
In 2010, the National Comprehensive Cancer Network (NCCN) guideline suggested that BRCA1/2 testing was indicated for women with TNBC who were younger than 40 years, based on emerging evidence that the triple- negative phenotype was associated with hereditary cancer syndromes regardless of family history [16, 17]
Earlier studies with enormous cohorts have focused on the prevalence of BRCA1/2 mutations in different patient subgroups classified by race, ethnicity or geographical factors [18,19,20,21]
Summary
Triple-negative breast cancer (TNBC) is defined by little or no expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). This clinical subtype accounts for 15–20% of all newly diagnosed breast cancers (BCs) [1]. Earlier studies of germline BRCA1 mutations in TNBC have shown wide variation in their prevalence, with a range of 10–40% These mutations are associated with family history [6, 7], risk of recurrence [8, 9], and sensitivity to DNA-damaging agents [10, 11]
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