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Detection of novel germline mutations in six breast cancer predisposition genes by targeted next-generation sequencing.

Human mutation - 1 Oct 2018

Dong Li, Wu Nan, Wang Shaojing, Cheng Yanan, Han Lei, Zhao Jing, Long Xinxin, Mu Kun, Li Menghui, Wei Lijuan, Wang Wanheng, Zhang Weijia, Cao Yandong, Liu Juntian, Yu Jinpu, Hao Xishan

Abstract excerpt

In this study, a customized amplicon-based target sequencing panel was designed to enrich the whole exon regions of six genes associated with the risk of breast cancer. Targeted next-generation sequencing (NGS) was performed for 146 breast cancer patients (BC), 71 healthy women with a family history of breast cancer (high risk), and 55 healthy women without a family history of cancer (control). Sixteen possible...

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Identifiers

PMID: 30039884
DOI: 10.1002/humu.23597

Genes

BRCA1
BRCA2
CHEK2
PALB2
PMS2

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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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