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


Berwick, M and MacArthur, J and Orlow, I and Kanetsky, P and Begg, CB and Luo, L and Reiner, A and Sharma, A and Armstrong, BK and Kricker, A and Cust, AE and Marrett, LD and Gruber, SB and Anton- Culver, H and Zanetti, R and Rosso, S and Gallagher, RP and Dwyer, T and Venn, A and Busam, K and From, L and White, K and Thomas, NE, and for the GEM Study Group, MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors, Pigment Cell and Melanoma Research, 27, (3) pp. 485-488. ISSN 1755-1471 (2014) [Refereed Article]

Copyright Statement

Copyright 2014 John Wiley

DOI: doi:10.1111/pcmr.12215


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. © 2014 John Wiley & Sons A/S.

Item Details

Item Type:Refereed Article
Keywords:Case–control study, melanoma, MITF, risk factors, single nucleotide polymorphism
Research Division:Medical and Health Sciences
Research Group:Public Health and Health Services
Research Field:Epidemiology
Objective Division:Health
Objective Group:Clinical Health (Organs, Diseases and Abnormal Conditions)
Objective Field:Cancer and Related Disorders
Author:Venn, A (Professor Alison Venn)
ID Code:92016
Year Published:2014
Web of Science® Times Cited:16
Deposited By:Menzies Institute for Medical Research
Deposited On:2014-06-04
Last Modified:2017-11-03

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