Article
A recurrent CHEK2 p.H371Y mutation is associated with breast cancer risk in Chinese women.
Human mutation - 1 Sept 2011
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
Abstract excerpt
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...
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