MC1R variant alleles and malignant melanoma risk in Israel Journal Article


Authors: Galore-Haskel, G.; Azizi, E.; Mohamdi, H.; Scope, A.; Chaudru, V.; Laitman, Y.; Barak, F.; Pavlotsky, F.; Demenais, F.; Friedman, E.
Article Title: MC1R variant alleles and malignant melanoma risk in Israel
Abstract: To evaluate the contribution of MC1R variants to malignant melanoma risk in Israeli Jews, sequencing of the MC1R gene was performed in 132 melanoma patients and 184 ethnically matched controls. Overall, 22 MC1R variants were detected, two were novel (M73I and 496_497insG). Using age and sex-adjusted logistic regression, one specific variant, R151C, conferred significantly increased melanoma risk among Ashkenazim (OR = 2.6, 95% CI: 1.3-5.3; p = 0.05 after Bonferroni correction). A gene dosage effect was noted, with significantly increased melanoma risk being observed in subjects with at least two variants whether when all variants are pooled (OR = 4.8, 95% CI: 2.0-11.2; p = 0.002 after Bonferroni correction) or when red hair colour (RHC) variants and non-RHC variants are distinguished (OR = 7.6, 95% CI: 2.8-20.3; p = 0.0004 after Bonferroni correction). If further studies support these findings, the assessment of MC1R status may be useful in identifying Jewish Israeli individuals at high risk for melanoma. © 2009 Elsevier Ltd. All rights reserved.
Keywords: human tissue; gene sequence; human cell; major clinical study; case control study; case-control studies; histopathology; cancer risk; cancer patient; allele; demography; melanoma; genotype; gene frequency; risk; questionnaire; molecular sequence data; family history; nucleotide sequence; cancer registry; israel; base sequence; interview; ethnic difference; age of onset; dna extraction; jews; ashkenazi jews; malignant melanoma risk; mc1r; sequence variants; melanocortin 1 receptor; ethnic and racial groups; genetic code; phenotypic variation; protein variant; polymorphism, genetic; receptor, melanocortin, type 1
Journal Title: European Journal of Cancer
Volume: 45
Issue: 11
ISSN: 0959-8049
Publisher: Elsevier Inc.  
Date Published: 2009-07-01
Start Page: 2015
End Page: 2022
Language: English
DOI: 10.1016/j.ejca.2009.02.001
PUBMED: 19269164
PROVIDER: scopus
DOI/URL:
Notes: --- - "Cited By (since 1996): 1" - "Export Date: 30 November 2010" - "CODEN: EJCAE" - "Source: Scopus"
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  1. Alon Scope
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