Role of MC1R variants in uveal melanoma.

Abstract:

:Variants of the melanocortin-1 receptor (MC1R) gene have been linked to sun-sensitive skin types and hair colour, and may independently play a role in susceptibility to cutaneous melanoma. To assess the role of MC1R variants in uveal melanoma, we have analysed a cohort of 350 patients for the changes within the major region of the gene displaying sequence variation. Eight variants were detected - V60L, D84E, V92M, R151C, I155T, R160W, R163Q and D294H - 63% of these patients being hetero- or homozygous for at least one variant. Standard melanoma risk factor data were available on 119 of the patients. MC1R variants were significantly associated with hair colour (P=0.03) but not skin or eye colour. The frequency of the variants detected in the 350 patients was comparable with those in the general population, and comparison of the cumulative tumour distribution by age at diagnosis in carriers and noncarriers provided no evidence that MC1R variants confer an increased risk of uveal melanoma. We interpret the data as indicating that MC1R variants do not appear to be major determinants of susceptibility to uveal melanoma.

journal_name

Br J Cancer

authors

Hearle N,Humphreys J,Damato BE,Wort R,Talaban R,Wixey J,Green H,Easton DF,Houlston RS

doi

10.1038/sj.bjc.6601358

subject

Has Abstract

pub_date

2003-11-17 00:00:00

pages

1961-5

issue

10

eissn

0007-0920

issn

1532-1827

pii

6601358

journal_volume

89

pub_type

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