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Article

Use of deep whole-genome sequencing data to identify structure risk variants in breast cancer susceptibility genes.

Human molecular genetics - 1 Mar 2018

Guo Xingyi, Shi Jiajun, Cai Qiuyin, Shu Xiao-Ou, He Jing, Wen Wanqing, Allen Jamie, Pharoah Paul, Dunning Alison, Hunter David J, Kraft Peter, Easton Douglas F, Zheng Wei, Long Jirong

Abstract excerpt

Functional disruptions of susceptibility genes by large genomic structure variant (SV) deletions in germlines are known to be associated with cancer risk. However, few studies have been conducted to systematically search for SV deletions in breast cancer susceptibility genes. We analysed deep (> 30x) whole-genome sequencing (WGS) data generated in blood samples from 128 breast cancer patients of Asian and...

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Identifiers

PMID: 29325031
DOI: 10.1093/hmg/ddy005
PMCID: PMC6454518

Genes

BRCA1
PALB2
PTEN

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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