Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

doi:10.1136/jmedgenet-2015-103452

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Article

Targeted massively parallel sequencing of a panel of putative breast cancer susceptibility genes in a large cohort of multiple-case breast and ovarian cancer families.

Journal of medical genetics - 1 Jan 2016

Li Jun, Meeks Huong, Feng Bing-Jian, Healey Sue, Thorne Heather, Makunin Igor, Ellis Jonathan, Campbell Ian, Southey Melissa, Mitchell Gillian, Clouston David, Kirk Judy, Goldgar David, Chenevix-Trench Georgia

Abstract excerpt

INTRODUCTION: Gene panel testing for breast cancer susceptibility has become relatively cheap and accessible. However, the breast cancer risks associated with mutations in many genes included in these panels are unknown. METHODS: We performed custom-designed targeted sequencing covering the coding exons of 17 known and putative breast cancer susceptibility genes in 660 non-BRCA1/2 women with familial breast...

Topics

Biomarkers, Tumor
Computational Biology
Exons
Female
Genes, BRCA1
Genes, BRCA2
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genotype

Germ-Line Mutation

Hereditary Breast and Ovarian Cancer Syndrome

High-Throughput Nucleotide Sequencing

Humans

Male

Mutation

Odds Ratio

Ovarian Neoplasms

Source

Open in PubMed Open full text

Identifiers

PMID: 26534844
DOI: 10.1136/jmedgenet-2015-103452
PMCID: PMC4915734

Genes

ATM
CDH1
CHEK2
PALB2
BARD1
BRCA1
BRIP1
CDK4
MRE11
NBN
PTEN
RAD50
STK11

Provenance

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