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. 2015 Feb 3;14:25. doi: 10.1186/s12943-015-0292-6

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© Park et al.; licensee BioMed Central. 2015

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

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Illustrative examples of rare germline CNVRs over-represented in specific cancers. In each panel, the first two tracks after the genomic coordinates show the RefSeq gene annotations and the positions of the probles on the Affymetrix SNP6.0 arrays. Below that, germline CNVs for cancers cases are indicated in blue (losses) and red (gains), followed by CNVs observed in control individuals in black. (A) 22 kb loss affecting NKX2-3 in 6 colorectal cancer cases (n = 342); none is present in the controls (n = 2956). (B) 56 kb loss affecting RET in 9 glioblastoma patients; 9 CNVs are also found in the controls but the sample size of the control set is almost 10-fold greater (351 vs 2956), making this statistically significant. (C) 173 kb gain affecting ERBB2 in 13 kidney cancer cases (n = 370); 19 are present in the controls. (D) 37 kb gain affecting DCC in five ovarian cancer cases (n = 380); none are present in the controls.