MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors Journal Article
| Authors: | Berwick, M.; Macarthur, J.; Orlow, I.; Kanetsky, P.; Begg, C. B.; Luo, L.; Reiner, A.; Sharma, A.; Armstrong, B. K.; Kricker, A.; Cust, A. E.; Marrett, L. D.; Gruber, S. B.; Anton-Culver, H.; Zanetti, R.; Rosso, S.; Gallagher, R. P.; Dwyer, T.; Venn, A.; Busam, K.; From, L.; White, K.; Thomas, N. E.; for the GEM Study Group |
| Contributor: | Roy, P. |
| Article Title: | MITF E318K's effect on melanoma risk independent of, but modified by, other risk factors |
| Abstract: | 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. Published by John Wiley & Sons Ltd. |
| Keywords: | single nucleotide polymorphism; stop codon; cancer risk; pancreas cancer; allele; melanoma; skin pigmentation; genetic association; genetic variability; gene frequency; risk factors; kidney carcinoma; hair color; family history; gene interaction; microphthalmia associated transcription factor; kidney cell; multicenter study (topic); mitf; human; article; case-controlstudy |
| Journal Title: | Pigment Cell & Melanoma Research |
| Volume: | 27 |
| Issue: | 3 |
| ISSN: | 1755-1471 |
| Publisher: | Wiley Blackwell |
| Date Published: | 2014-05-01 |
| Start Page: | 485 |
| End Page: | 488 |
| Language: | English |
| DOI: | 10.1111/pcmr.12215 |
| PROVIDER: | scopus |
| PMCID: | PMC3988207 |
| PUBMED: | 24406078 |
| DOI/URL: | |
| Notes: | Pigm. Cell Melanoma Res. -- Export Date: 2 June 2014 -- Source: Scopus |
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