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Hereditary Cancer in Clinical Practice

Open Access

Genome-wide association studies identify new melanoma susceptibility loci

Hereditary Cancer in Clinical Practice201210(Suppl 3):A5

Published: 20 April 2012


Public HealthMelanomaCancer ResearchAssociation StudyControl Individual

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.

Authors’ Affiliations

Clinic of Oncology, Pomeranian Medical University, Szczecin, Poland


© Dębniak; licensee BioMed Central Ltd. 2012

This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.