MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors Academic Article uri icon


MeSH Major

  • Melanoma
  • Microphthalmia-Associated Transcription Factor
  • Mutation, Missense
  • Point Mutation


  • 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.


publication date

  • May 2014



  • Academic Article



  • eng

PubMed Central ID

  • PMC3988207

Digital Object Identifier (DOI)

  • 10.1111/pcmr.12215

PubMed ID

  • 24406078

Additional Document Info

start page

  • 485

end page

  • 8


  • 27


  • 3