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

Marianne Berwick, Jamie Macarthur, Irene Orlow, Peter Kanetsky, Colin B. Begg, Li Luo, Anne S. Reiner, Ajay Sharma, Bruce K. Armstrong, Anne Kricker, Anne E. Cust, Loraine D. Marrett, Stephen B. Gruber, Hoda Anton-Culver, Roberto Zanetti, Stefano Rosso, Richard P. Gallagher, Terence Dwyer, Alison Venn, Klaus BusamLynn From, Kirsten Anne White, Nancy E. Thomas, Pampa Roy, Susan Paine, Paul Tucker, Richard P. Gallaghe, Donna Kan, Elizabeth Theis, Argyrios Ziogas, Timothy Johnson, Judith Klotz, Shu Chen Huang, Homer Wilcox, Lisa Paddock, Robert C. Millikan, David W. Ollila, Kathleen Conway, Pamela A. Groben, Sharon N. Edmiston, Honglin Hao, Eloise Parrish, Jill S. Frank, Timothy R. Rebbeck, Julia Lee Taylor, Sasha Madronich

Research output: Contribution to journalArticlepeer-review

28 Citations (Scopus)


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 languageEnglish
Pages (from-to)485-488
Number of pages4
JournalPigment Cell and Melanoma Research
Issue number3
Publication statusPublished - 1 May 2014
Externally publishedYes


Dive into the research topics of 'MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors'. Together they form a unique fingerprint.

Cite this