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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.

Original publication




Journal article


Pigment Cell Melanoma Res

Publication Date





485 - 488


Case-controlstudy, MITF, melanoma, risk factors, single nucleotide polymorphism, Alleles, Amino Acid Substitution, Consensus Sequence, Gene Frequency, Hair Color, Humans, Melanoma, Microphthalmia-Associated Transcription Factor, Mutation, Missense, Neoplasm Proteins, Neoplasms, Multiple Primary, Nevus, Pigmented, Odds Ratio, Phenotype, Point Mutation, Protein Processing, Post-Translational, Risk, Risk Factors, Skin Neoplasms, Sumoylation