Journal article

Identification of a melanoma susceptibility locus and somatic mutation in TET2

F Song, CI Amos, JE Lee, CG Lian, S Fang, H Liu, S MacGregor, MM Iles, MH Law, NI Lindeman, GW Montgomery, DL Duffy, AE Cust, MA Jenkins, DC Whiteman, RF Kefford, GG Giles, BK Armstrong, JF Aitken, JL Hopper Show all

Carcinogenesis | Published : 2014

Abstract

Although genetic studies have reported a number of loci associated with melanoma risk, the complex genetic architecture of the disease is not yet fully understood. We sought to identify common genetic variants associated with melanoma risk in a genome-wide association study (GWAS) of 2298 cases and 6654 controls. Thirteen of 15 known loci were replicated with nominal significance. A total of 69 single-nucleotide polymorphisms (SNPs) were selected for in silico replication in two independent melanoma GWAS datasets (a total of 5149 cases and 12 795 controls). Seven novel loci were nominally significantly associated with melanoma risk. These seven SNPs were further genotyped in 234 melanoma cas..

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University of Melbourne Researchers