Open AccessIdentification of recurrent BRCA 1 mutation and its clinical relevance in Chinese Triple‐negative breast cancer cohort
Author(s) -
Liu Xiaoran,
Li Huiping,
Shao Bin,
Wu Jianmin,
Kong Weiyao,
Song Guohong,
Jiang Hanfang,
Wang Jing,
Wan Fengling
Publication year - 2017
Publication title -
cancer medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.403
H-Index - 53
ISSN - 2045-7634
DOI - 10.1002/cam4.1004
Subject(s) - triple negative breast cancer , breast cancer , frameshift mutation , medicine , oncology , mutation , germline mutation , brca mutation , cancer , cohort , clinical significance , genetics , biology , gene
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.