Pigment cell & melanoma research · 2014
MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors.
СтатьяПоддержка NIH: внешняя программаНазвание и аннотация: Перевод в очереди
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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, GEM Study Group
Аннотация
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, <0.01). There was no evidence of interaction between MC1R 'red hair variants' and MITF E318K. Moreover, risk of melanoma among carriers with 'low risk' phenotypes was as great or greater than among those with 'at risk' phenotypes with few exceptions.
Предметные рубрики MeSH
AllelesAmino Acid SubstitutionConsensus SequenceGene FrequencyHair ColorHumansMelanomaMicrophthalmia-Associated Transcription FactorMutation, MissenseNeoplasm ProteinsNeoplasms, Multiple PrimaryNevus, PigmentedOdds RatioPhenotypePoint MutationProtein Processing, Post-TranslationalRiskRisk FactorsSkin NeoplasmsSumoylation