Skip to main content

Genome-wide association studies identify new melanoma susceptibility loci

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.

Author information



Corresponding author

Correspondence to Tadeusz Dębniak.

Rights and permissions

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.

Reprints and Permissions

About this article

Cite this article

Dębniak, T. Genome-wide association studies identify new melanoma susceptibility loci. Hered Cancer Clin Pract 10, A5 (2012).

Download citation


  • Public Health
  • Melanoma
  • Cancer Research
  • Association Study
  • Control Individual