Identification of a melanoma susceptibility locus and somatic mutation in TET2

dc.contributor.authorSong, Fengju
dc.contributor.authorAmos, Christopher I.
dc.contributor.authorLee, Jeffrey E.
dc.contributor.authorLian, Christine G.
dc.contributor.authorFang, Shenying
dc.contributor.authorLiu, Hongliang
dc.contributor.authorMacGregor, Stuart
dc.contributor.authorIles, Mark M.
dc.contributor.authorLaw, Matthew H.
dc.contributor.authorLindeman, Neil I.
dc.contributor.authorMontgomery, Grant W.
dc.contributor.authorDuffy, David L.
dc.contributor.authorCust, Anne E.
dc.contributor.authorJenkins, Mark A.
dc.contributor.authorWhiteman, David C.
dc.contributor.authorKefford, Richard F.
dc.contributor.authorGiles, Graham G.
dc.contributor.authorArmstrong, Bruce K.
dc.contributor.authorAitken, Joanne F.
dc.contributor.authorHopper, John L.
dc.contributor.authorBrown, Kevin M.
dc.contributor.authorMartin, Nicholas G.
dc.contributor.authorMann, Graham J.
dc.contributor.authorBishop, D. Timothy
dc.contributor.authorBishop, Julia A. Newton
dc.contributor.authorKraft, Peter
dc.contributor.authorQureshi, Abrar A.
dc.contributor.authorKanetsky, Peter A.
dc.contributor.authorHayward, Nicholas K.
dc.contributor.authorHunter, David J.
dc.contributor.authorWei, Qingyi
dc.contributor.authorHan, Jiali
dc.contributor.departmentDepartment of Epidemiology, Richard M. Fairbanks School of Public Healthen_US
dc.date.accessioned2016-03-15T19:43:22Z
dc.date.available2016-03-15T19:43:22Z
dc.date.issued2014-09
dc.description.abstractAlthough 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.en_US
dc.identifier.citationSong, 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. http://doi.org/10.1093/carcin/bgu140en_US
dc.identifier.urihttps://hdl.handle.net/1805/8872
dc.language.isoen_USen_US
dc.publisherOxford University Pressen_US
dc.relation.isversionof10.1093/carcin/bgu140en_US
dc.relation.journalCarcinogenesisen_US
dc.rightsPublisher Policyen_US
dc.sourcePMCen_US
dc.subjectCase-Control Studiesen_US
dc.subjectDNA-Binding Proteins -- Geneticsen_US
dc.subjectGenetic Predisposition to Diseaseen_US
dc.subjectGenome-Wide Association Studyen_US
dc.subjectHumansen_US
dc.subjectMelanoma -- Geneticsen_US
dc.subjectMutationen_US
dc.subjectPolymorphism, Single Nucleotideen_US
dc.subjectProto-Oncogene Proteins -- Geneticsen_US
dc.subjectRisk Factorsen_US
dc.subjectSkin Neoplasms -- Geneticsen_US
dc.titleIdentification of a melanoma susceptibility locus and somatic mutation in TET2en_US
dc.typeArticleen_US
ul.alternative.fulltexthttp://pubmed.gov/24980573en_US
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