title: A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.
abstract: 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.
authors: Key laboratory of Carcinogenesis and Translational Research (Ministry of Education), Breast Center, Beijing Cancer Hospital & Institute, Peking University Cancer Hospital, Beijing, People's Republic of China.
authors: Yin
authors: Y
authors: Liu
authors: Ji
authors: J
authors: Liao
authors: Ye
authors: Y
authors: Xu
authors: Weiqiu
authors: W
authors: Chen
authors: Dongyun
authors: D
authors: Liu
authors: Tao
authors: T
authors: Ouyang
authors: Jinfeng
authors: J
authors: Li
authors: Tianfeng
authors: T
authors: Wang
authors: Zhaoqing
authors: Z
authors: Fan
authors: Tie
authors: T
authors: Fan
authors: Benyao
authors: B
authors: Lin
authors: Xingzhi
authors: X
authors: Xu
authors: Yuntao
authors: Y
authors: Xie