Skip to main content
Journal cover image

Identification of a melanoma susceptibility locus and somatic mutation in TET2.

Publication ,  Journal Article
Song, F; Amos, CI; Lee, JE; Lian, CG; Fang, S; Liu, H; MacGregor, S; Iles, MM; Law, MH; Lindeman, NI; Montgomery, GW; Duffy, DL; Cust, AE ...
Published in: Carcinogenesis
September 2014

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 cases and 238 controls. The SNP rs4698934 was nominally significantly associated with melanoma risk. The combined odds ratio per T allele = 1.18; 95% confidence interval (1.10-1.25); combined P = 7.70 × 10(-) (7). This SNP is located in the intron of the TET2 gene on chromosome 4q24. In addition, a novel somatic mutation of TET2 was identified by next-generation sequencing in 1 of 22 sporadic melanoma cases. TET2 encodes a member of TET family enzymes that oxidizes 5-methylcytosine to 5-hydroxymethylcytosine (5hmC). It is a putative epigenetic biomarker of melanoma as we previously reported, with observation of reduced TET2 transcriptional expression. This study is the first to implicate TET2 genetic variation and mutation in melanoma.

Duke Scholars

Altmetric Attention Stats
Dimensions Citation Stats

Published In

Carcinogenesis

DOI

EISSN

1460-2180

Publication Date

September 2014

Volume

35

Issue

9

Start / End Page

2097 / 2101

Location

England

Related Subject Headings

  • Skin Neoplasms
  • Risk Factors
  • Proto-Oncogene Proteins
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Mutation
  • Melanoma
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease
 

Citation

APA
Chicago
ICMJE
MLA
NLM
Song, F., Amos, C. I., Lee, J. E., Lian, C. G., Fang, S., Liu, H., … Han, J. (2014). Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis, 35(9), 2097–2101. https://doi.org/10.1093/carcin/bgu140
Song, Fengju, Christopher I. Amos, Jeffrey E. Lee, Christine G. Lian, Shenying Fang, Hongliang Liu, Stuart MacGregor, et al. “Identification of a melanoma susceptibility locus and somatic mutation in TET2.Carcinogenesis 35, no. 9 (September 2014): 2097–2101. https://doi.org/10.1093/carcin/bgu140.
Song F, Amos CI, Lee JE, Lian CG, Fang S, Liu H, et al. Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis. 2014 Sep;35(9):2097–101.
Song, Fengju, et al. “Identification of a melanoma susceptibility locus and somatic mutation in TET2.Carcinogenesis, vol. 35, no. 9, Sept. 2014, pp. 2097–101. Pubmed, doi:10.1093/carcin/bgu140.
Song F, Amos CI, Lee JE, Lian CG, Fang S, Liu H, MacGregor S, Iles MM, Law MH, Lindeman NI, Montgomery GW, Duffy DL, Cust AE, Jenkins MA, Whiteman DC, Kefford RF, Giles GG, Armstrong BK, Aitken JF, Hopper JL, Brown KM, Martin NG, Mann GJ, Bishop DT, Bishop JAN, GenoMEL consortium, Kraft P, Qureshi AA, Kanetsky PA, Hayward NK, Hunter DJ, Wei Q, Han J. Identification of a melanoma susceptibility locus and somatic mutation in TET2. Carcinogenesis. 2014 Sep;35(9):2097–2101.
Journal cover image

Published In

Carcinogenesis

DOI

EISSN

1460-2180

Publication Date

September 2014

Volume

35

Issue

9

Start / End Page

2097 / 2101

Location

England

Related Subject Headings

  • Skin Neoplasms
  • Risk Factors
  • Proto-Oncogene Proteins
  • Polymorphism, Single Nucleotide
  • Oncology & Carcinogenesis
  • Mutation
  • Melanoma
  • Humans
  • Genome-Wide Association Study
  • Genetic Predisposition to Disease