RGD Reference Report - Assessment of tyrosinase variants and skin cancer risk in a large cohort of French subjects. - Rat Genome Database

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

Authors: Hu, HH  Guedj, M  Descamps, V  Jouary, T  Bourillon, A  Ezzedine, K  Taieb, A  Bagot, M  Bensussan, A  Saiag, P  Grandchamp, B  Basset-Seguin, N  Soufir, N 
Citation: Hu HH, etal., J Dermatol Sci. 2011 Nov;64(2):127-33. doi: 10.1016/j.jdermsci.2011.07.003. Epub 2011 Aug 22.
RGD ID: 8694390
Pubmed: PMID:21906913   (View Abstract at PubMed)
DOI: DOI:10.1016/j.jdermsci.2011.07.003   (Journal Full-text)

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.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
skin melanoma susceptibilityIAGP 8694390DNA:missense mutation:cds:p.R402Q(human)RGD 
skin melanoma susceptibilityISOTYR (Homo sapiens)8694390; 8694390DNA:missense mutation:cds:p.R402Q(human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Tyr  (tyrosinase)

Genes (Mus musculus)
Tyr  (tyrosinase)

Genes (Homo sapiens)
TYR  (tyrosinase)


Additional Information