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Article

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

International journal of cancer - 15 Apr 2020

Guo Xingyi, Long Jirong, Chen Zhishan, Shu Xiao-Ou, Xiang Yong-Bing, Wen Wanqing, Zeng Chenjie, Gao Yu-Tang, Cai Qiuyin, Zheng Wei

Abstract excerpt

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...

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Identifiers

PMID: 31837001
DOI: 10.1002/ijc.32825
PMCID: PMC7453427

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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