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Please note that, as of 18 July 2017, Microarrays has been renamed to High-Throughput and is now published here.
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The Role of Constitutional Copy Number Variants in Breast Cancer

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Mackenzie Cancer Research Group, Department of Pathology, University of Otago, Christchurch 8140, New Zealand
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Biostatistics and Computational Biology Unit, University of Otago, Christchurch 8140, New Zealand
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Author to whom correspondence should be addressed.
Academic Editor: Massimo Negrini
Microarrays 2015, 4(3), 407-423; https://doi.org/10.3390/microarrays4030407
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)
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
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.

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