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A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women
Author(s) -
Liu Yin,
Liao Ji,
Xu Ye,
Chen Weiqiu,
Liu Dongyun,
Ouyang Tao,
Li Jinfeng,
Wang Tianfeng,
Fan Zhaoqing,
Fan Tie,
Lin Benyao,
Xu Xingzhi,
Xie Yuntao
Publication year - 2011
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21538
Subject(s) - chek2 , breast cancer , odds ratio , medicine , oncology , confidence interval , mutation , cancer , biology , genetics , germline mutation , gene
The association between the CHEK2 and breast cancer risk in Chinese women is unknown. Here, we screened the full CHEK2 coding sequence in 118 Chinese familial breast cancer cases who are negative for mutations in BRCA1 and BRCA2 , one recurrent mutation, CHEK2 c.1111C>T (p.H371Y), was identified in five index cases in this cohort. Functional analysis suggested that CHEK2 p.H371Y was a pathogenic mutation that resulted in decreased kinase activity. We further screened the CHEK2 p.H371Y mutation in 909 unselected breast cancer cases and 1,228 healthy individuals. The frequencies of the CHEK2 p.H371Y in familial and unselected breast cancer cases and controls were 4.24% (5/118), 1.76% (16/909), and 0.73% (9/1228), respectively. The p.H371Y mutation was significantly associated with increased breast cancer risk in unselected breast cancer (odds ratio [OR] 2.43, 95% confidence interval [CI] 1.07–5.52, P = 0.034). Our results indicate that the recurrent mutation, p.H371Y, confers a moderate risk of breast cancer in Chinese women. Hum Mutat 32:1–4, 2011. © 2011 Wiley‐Liss, Inc.