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J Dermatol Sci. 2011 Nov;64(2):127-33. doi: 10.1016/j.jdermsci.2011.07.003. Epub 2011 Aug 22.

Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects.

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  • 1Laboratoire de Biochimie Hormonale et Génétique, Hôpital Bichat Claude Bernard, APHP, IFR02, 75018, Paris, France.

Abstract

BACKGROUND:

Tyrosinase (TYR) is a key pigmentation gene that is highly polymorphic and responsible for the most common form of autosomal recessive albinism, OCA1.

OBJECTIVE:

To assess the role of frequent and rare TYR variants in predisposition to skin cancer (SK) in the French population.

METHODS:

We genotyped a frequent TYR variant (p.R402Q) in 1273 patients {1047 cutaneous melanoma (CM) and 226 basal cell carcinoma (BCC)} and 925 controls, and the full coding region of TYR was sequenced in 287 patients suspected of genetic predisposition to SK (familial and/or multiple SK and/or onset before 40 years) and 187 controls.

RESULTS:

The homozygous p.R402Q variant was significantly associated with SK risk (P value=0.008; OR=1.57), and was mostly associated with multiple CM risk (P value=0.021; OR=2.50) and familial CM risk (P value=0.022; OR=2.16). In addition, 19 rare TYR variants, mainly albinism mutations, were identified in 15 patients and 8 controls. Among these, 3 clearly deleterious mutations (1 non-sense and 2 affecting mRNA splicing) were identified in 3 patients, one of which was homozygous.

CONCLUSION:

Our data confirmed the association of TYR p.R402Q with SK risk in the French population, and support that rare deleterious TYR variants may also play a role in multi-factorial genetic predisposition to SK. These results should be confirmed by replications studies.

Copyright © 2011 Japanese Society for Investigative Dermatology. Published by Elsevier Ireland Ltd. All rights reserved.

PMID:
21906913
[PubMed - indexed for MEDLINE]
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