1. MITFE318K's effect on melanoma risk independent of, but modified by, other risk factors
- Author
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Berwick, Marianne, MacArthur, Jamie, Orlow, Irene, Kanetsky, Peter, Begg, Colin B, Luo, Li, Reiner, Anne, Sharma, Ajay, Armstrong, Bruce K, Kricker, Anne, Cust, Anne E, Marrett, Loraine D, Gruber, Stephen B, Anton-Culver, Hoda, Zanetti, Roberto, Rosso, Stefano, Gallagher, Richard P, Dwyer, Terence, Venn, Alison, Busam, Klaus, From, Lynn, White, Kirsten, Thomas, Nancy E, and GEM Study Group
- Subjects
Oncology ,Skin Neoplasms ,Medical and Health Sciences ,Neoplasms, Multiple Primary ,Gene Frequency ,Multiple Primary ,Risk Factors ,single nucleotide polymorphism ,Neoplasms ,Odds Ratio ,2.1 Biological and endogenous factors ,Aetiology ,Family history ,Melanoma ,Cancer ,Genetics ,Nevus, Pigmented ,integumentary system ,Biological Sciences ,Microphthalmia-associated transcription factor ,Neoplasm Proteins ,Phenotype ,Risk ,medicine.medical_specialty ,Mutation, Missense ,Single-nucleotide polymorphism ,Dermatology ,Biology ,Article ,General Biochemistry, Genetics and Molecular Biology ,Pigmented ,Clinical Research ,Internal medicine ,Consensus Sequence ,melanoma ,medicine ,Humans ,Point Mutation ,Nevus ,Allele ,Hair Color ,Allele frequency ,Protein Processing ,Alleles ,Case-controlstudy ,Microphthalmia-Associated Transcription Factor ,MITF ,Dermatology & Venereal Diseases ,Human Genome ,Post-Translational ,Sumoylation ,GEM Study Group ,Odds ratio ,medicine.disease ,Amino Acid Substitution ,Mutation ,Missense ,Protein Processing, Post-Translational - Abstract
A rare germline variant in the microphthalmia-associated transcription factor (MITF) gene, E318K, has been reported as associated with melanoma. We confirmed its independent association with melanoma [odds ratio (OR) 1.7, 95% confidence interval (CI) = 1.1, 2.7, P = 0.03]; adjusted for age, sex, center, age × sex interaction, pigmentation characteristics, family history of melanoma, and nevus density). In stratified analyses, carriage of MITF E318K was associated with melanoma more strongly in people with dark hair than fair hair (P for interaction, 0.03) and in those with no moles than some or many moles (P for interaction
- Published
- 2014