Next Article in Journal
Aptamer-Based Screens of Human Body Fluids for Biomarkers
Next Article in Special Issue
SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia
Previous Article in Journal
Microarray Meta-Analysis and Cross-Platform Normalization: Integrative Genomics for Robust Biomarker Discovery
Article Menu

Export Article

From the third issue of 2017, Microarrays has changed its name to High-Throughput.

Open AccessReview

The Role of Constitutional Copy Number Variants in Breast Cancer

Mackenzie Cancer Research Group, Department of Pathology, University of Otago, Christchurch 8140, New Zealand
Biostatistics and Computational Biology Unit, University of Otago, Christchurch 8140, New Zealand
Author to whom correspondence should be addressed.
Academic Editor: Massimo Negrini
Microarrays 2015, 4(3), 407-423;
Received: 30 July 2015 / Revised: 26 August 2015 / Accepted: 1 September 2015 / Published: 8 September 2015
(This article belongs to the Special Issue SNP Array)
PDF [627 KB, uploaded 8 September 2015]


Constitutional copy number variants (CNVs) include inherited and de novo deviations from a diploid state at a defined genomic region. These variants contribute significantly to genetic variation and disease in humans, including breast cancer susceptibility. Identification of genetic risk factors for breast cancer in recent years has been dominated by the use of genome-wide technologies, such as single nucleotide polymorphism (SNP)-arrays, with a significant focus on single nucleotide variants. To date, these large datasets have been underutilised for generating genome-wide CNV profiles despite offering a massive resource for assessing the contribution of these structural variants to breast cancer risk. Technical challenges remain in determining the location and distribution of CNVs across the human genome due to the accuracy of computational prediction algorithms and resolution of the array data. Moreover, better methods are required for interpreting the functional effect of newly discovered CNVs. In this review, we explore current and future application of SNP array technology to assess rare and common CNVs in association with breast cancer risk in humans. View Full-Text
Keywords: copy number variants (CNVs); breast cancer; SNP arrays; risk; genetic variation copy number variants (CNVs); breast cancer; SNP arrays; risk; genetic variation
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (CC BY 4.0).

Supplementary material


Share & Cite This Article

MDPI and ACS Style

Walker, L.C.; Wiggins, G.A.; Pearson, J.F. The Role of Constitutional Copy Number Variants in Breast Cancer. Microarrays 2015, 4, 407-423.

Show more citation formats Show less citations formats

Article Metrics

Article Access Statistics



[Return to top]
Microarrays EISSN 2076-3905 Published by MDPI AG, Basel, Switzerland RSS E-Mail Table of Contents Alert
Back to Top