Role of MC1R variants in uveal melanoma

Hearle, N., Humphreys, J., Damato, B. E., Wort, R., Talaban, R., Wixey, J., Green, H., Easton, D. F. and Houlston, R. S. (2003) Role of MC1R variants in uveal melanoma. British Journal of Cancer, 89 10: 1961-1965. doi:10.1038/sj.bjc.6601358

Author Hearle, N.
Humphreys, J.
Damato, B. E.
Wort, R.
Talaban, R.
Wixey, J.
Green, H.
Easton, D. F.
Houlston, R. S.
Title Role of MC1R variants in uveal melanoma
Formatted title
Role of MC1R variants in uveal melanoma
Journal name British Journal of Cancer   Check publisher's open access policy
ISSN 0007-0920
Publication date 2003-11
Sub-type Article (original research)
DOI 10.1038/sj.bjc.6601358
Open Access Status DOI
Volume 89
Issue 10
Start page 1961
End page 1965
Total pages 5
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
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 (P¼0.03) 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. © 2003 Cancer Research UK
Keyword MCIR
Uveal melanoma
Melanoma risk factor
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Unknown

Document type: Journal Article
Sub-type: Article (original research)
Collections: Excellence in Research Australia (ERA) - Collection
School of Medicine Publications
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Created: Mon, 18 Jan 2010, 12:29:01 EST by Natalie Holt on behalf of Faculty Of Health Sciences