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Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.


ABSTRACT: The missing heritability of breast cancer could be partially attributed to rare variants (MAF?4,500 East Asian women from the genome Aggregation database (gnomAD), providing additional support to our findings. Our study revealed a potential novel gene and multiple disruptive variants of BRCA2 for breast cancer risk, which may identify high-risk women in Chinese populations.

SUBMITTER: Guo X 

PROVIDER: S-EPMC7453427 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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Discovery of rare coding variants in OGDHL and BRCA2 in relation to breast cancer risk in Chinese women.

Guo Xingyi X   Long Jirong J   Chen Zhishan Z   Shu Xiao-Ou XO   Xiang Yong-Bing YB   Wen Wanqing W   Zeng Chenjie C   Gao Yu-Tang YT   Cai Qiuyin Q   Zheng Wei W  

International journal of cancer 20191227 8


The missing heritability of breast cancer could be partially attributed to rare variants (MAF < 0.5%). To identify breast cancer-associated rare coding variants, we conducted whole-exome sequencing (~50×) in genomic DNA samples obtained from 831 breast cancer cases and 839 controls of Chinese females. Using burden tests for each gene that included rare missense or predicted deleterious variants, we identified 29 genes showing promising associations with breast cancer risk. We replicated the asso  ...[more]

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