This article is part of the supplement: Annual Conference on Hereditary Cancers 2011

Open Access Meeting abstract

Genome-wide association studies identify new melanoma susceptibility loci

Tadeusz Dębniak

Author Affiliations

Pomeranian Medical University, Clinic of Oncology, Szczecin, Poland

Hereditary Cancer in Clinical Practice 2012, 10(Suppl 3):A5 doi:10.1186/1897-4287-10-S3-A5


The electronic version of this article is the complete one and can be found online at: http://www.hccpjournal.com/content/10/S3/A5


Published:20 April 2012

© 2012 Dębniak; licensee BioMed Central Ltd.

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Meeting abstract

We report results of the genome-wide association studies for melanoma that were conducted by the GenoMEL Consortium. In the first study 2981 individuals with melanoma and 8408 study-specific control individuals of European ancestry were analysed, in the second experiment 2168 Australian individuals with melanoma and 4387 control individuals were genotyped for 317,000 or 610,000 single-nucleotide polymorphisms (SNPs). Three of the previously reported melanoma susceptibility loci (MC1R, ASIP and CDKN2A) reached genome-wide significance in both studies. Three new loci were found to be associated with melanoma risk in European GWAS: rs1801516 in ATM, rs45430 in MX2, rs13016963 in CASP8. A fourth locus near CCND1 remains of potential interest. An Australian GWAS identified a new susceptibility locus at 1q21.3 (rs 7412746) and potentially 1q42.12 (rs3219090). Further studies will be required to determine which gene or genes at the reported loci mediate melanoma risk.