Germline copy number variations are associated with breast cancer risk and prognosis

Breast cancer is one of the most common cancers among women, and susceptibility is explained by genetic, lifestyle and environmental components. Copy Number Variants (CNVs) are structural DNA variations that contribute to diverse phenotypes via gene-dosage effects or cis-regulation. In this study, w...

Full description

Saved in:
Bibliographic Details
Published in:Scientific reports 2017-11, Vol.7 (1), p.14621-15, Article 14621
Main Authors: Kumaran, Mahalakshmi, Cass, Carol E., Graham, Kathryn, Mackey, John R., Hubaux, Roland, Lam, Wan, Yasui, Yutaka, Damaraju, Sambasivarao
Format: Article
Language:English
Subjects:
38/77
45/43
45/61
631/208/205/2138
692/4028/67/1347
Adult
Association analysis
Biomarkers, Tumor - genetics
Breast - metabolism
Breast cancer
Breast Neoplasms - genetics
Breast Neoplasms - pathology
Case-Control Studies
Copy number
Deoxyribonucleic acid
DNA
DNA Copy Number Variations
Female
Follow-Up Studies
Gene dosage
Gene expression
Genetic Predisposition to Disease
Genome-Wide Association Study
Genomes
Genotyping
GSTM1 protein
Health risk assessment
Humanities and Social Sciences
Humans
Middle Aged
multidisciplinary
Neoplasm Invasiveness
Polymorphism, Single Nucleotide
Principal components analysis
Prognosis
Science
Science (multidisciplinary)
Single-nucleotide polymorphism
Survival Rate
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Breast cancer is one of the most common cancers among women, and susceptibility is explained by genetic, lifestyle and environmental components. Copy Number Variants (CNVs) are structural DNA variations that contribute to diverse phenotypes via gene-dosage effects or cis-regulation. In this study, we aimed to identify germline CNVs associated with breast cancer susceptibility and their relevance to prognosis. We performed whole genome CNV genotyping in 422 cases and 348 controls using Human Affymetrix SNP 6 array. Principal component analysis for population stratification revealed 84 outliers leaving 366 cases and 320 controls of Caucasian ancestry for association analysis; CNVs with frequency > 10% and overlapping with protein coding genes were considered for breast cancer risk and prognostic relevance. Coding genes within the CNVs identified were interrogated for gene- dosage effects by correlating copy number status with gene expression profiles in breast tumor tissue. We identified 200 CNVs associated with breast cancer (q-value 
ISSN:2045-2322
2045-2322
DOI:10.1038/s41598-017-14799-7