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

Journal of Dermatological Science

Volumn 64, Issue 2, 2011, Pages 127-133

  Hu, Hui Han ^a,b,c   Guedj, Mickael ^d   Descamps, Vincent ^a,b,c   Jouary, Thomas ^e,f,g   Bourillon, Agnes ^a   Ezzedine, Khaled ^e,f,g   Taieb, Alain ^e,f,g   Bagot, Martine ^e,f,g   Bensussan, Armand ^b,c   Saiag, Philippe ^h,i   Grandchamp, Bernard ^a,c   Basset Seguin, Nicole ^b,c   Soufir, Nadem ^a,b,c  

^a BICHAT HOSPITAL   (France)

^b SAINT LOUIS HOSPITAL   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^e BORDEAUX UNIVERSITY HOSPITAL   (France)

^f INSERM   (France)

^g UNIVERSITÉ DE BORDEAUX   (France)

^h HÔPITAL AMBROISE PARÉ   (France)

ⁱ LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

Author keywords

Albinism; Basal cell carcinoma; Melanoma; Polymorphisms; Tyrosinase

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; BASAL CELL CARCINOMA; CANCER RISK; CHILD; CONTROLLED STUDY; CUTANEOUS MELANOMA; ETHNIC GROUP; EYE COLOR; FAMILIAL CANCER; FEMALE; FRENCH LANGUAGE; GENE; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC PREDISPOSITION; GENETIC VARIABILITY; HAIR COLOR; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOGENESIS; MELANOMA; MULTIPLE CANCER; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA SPLICING; SCHOOL CHILD; SKIN CANCER; SKIN COLOR; SPLICING DEFECT; TYROSINASE GENE;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHILD; COHORT STUDIES; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MELANOMA; MIDDLE AGED; MONOPHENOL MONOOXYGENASE; MULTIVARIATE ANALYSIS; RISK; SKIN NEOPLASMS; SKIN PIGMENTATION;

EID: 80053383840     PISSN: 09231811     EISSN: 1873569X     Source Type: Journal    
DOI: 10.1016/j.jdermsci.2011.07.003     Document Type: Article

References (27)

1. Tucker M.A. Melanoma epidemiology. Hematol Oncol Clin N Am 2009, 23:383-395. vii.
2. Tryggvadottir L., Gislum M., Hakulinen T., Klint A., Engholm G., Storm H.H., et al. Trends in the survival of patients diagnosed with malignant melanoma of the skin in the Nordic countries 1964-2003 followed up to the end of 2006. Acta Oncol 2010, 49:665-672.
3. Wong C.S., Strange R.C., Lear J.T. Basal cell carcinoma. Br Med J 2003, 327:794-798.
4. Fargnoli M.C., Argenziano G., Zalaudek I., Peris K. High- and low-penetrance cutaneous melanoma susceptibility genes. Expert Rev Anticancer Ther 2006, 6:657-670.
5. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis 2008, 3:32.
6. Duffy D.L., Zhao Z.Z., Sturm R.A., Hayward N.K., Martin N.G., Montgomery G.W. Multiple pigmentation gene polymorphisms account for a substantial proportion of risk of cutaneous malignant melanoma. J Invest Dermatol 2010, 130:520-528.
7. Gerstenblith M.R., Shi J., Landi M.T. Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res 2010.
8. Raimondi S., Sera F., Gandini S., Iodice S., Caini S., Maisonneuve P., et al. MC1R variants, melanoma and red hair color phenotype: a meta-analysis. Int J Cancer 2008, 122:2753-2760.
9. Fernandez L.P., Milne R.L., Pita G., Aviles J.A., Lazaro P., Benitez J., et al. SLC45A2: a novel malignant melanoma-associated gene. Hum Mutat 2008, 29:1161-1167.
10. Guedj M., Bourillon A., Combadieres C., Rodero M., Dieude P., Descamps V., et al. Variants of the MATP/SLC45A2 gene are protective for melanoma in the French population. Hum Mutat 2008, 29:1154-1160.
11. Stacey S.N., Sulem P., Masson G., Gudjonsson S.A., Thorleifsson G., Jakobsdottir M., et al. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 2009, 41:909-914.
12. Gudbjartsson D.F., Sulem P., Stacey S.N., Goldstein A.M., Rafnar T., Sigurgeirsson B., et al. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet 2008, 40:886-891.
13. Jannot A.S., Meziani R., Bertrand G., Gerard B., Descamps V., Archimbaud A., et al. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur J Hum Genet 2005, 13:913-920.
14. Soufir N., Meziani R., Lacapere J.J., Bertrand G., Fumeron F., Bourillon A., et al. Association between endothelin receptor B nonsynonymous variants and melanoma risk. J Natl Cancer Inst 2005, 97:1297-1301.
15. Wang N., Hebert D.N. Tyrosinase maturation through the mammalian secretory pathway: bringing color to life. Pigment Cell Res 2006, 19:3-18.
16. Oetting W.S. The tyrosinase gene and oculocutaneous albinism type 1 (OCA1): a model for understanding the molecular biology of melanin formation. Pigment Cell Res 2000, 13:320-325.
17. Fukai K., Holmes S.A., Lucchese N.J., Siu V.M., Weleber R.G., Schnur R.E., et al. Autosomal recessive ocular albinism associated with a functionally significant tyrosinase gene polymorphism. Nat Genet 1995, 9:92-95.
18. Liboutet M., Portela M., Delestaing G., Vilmer C., Dupin N., Gorin I., et al. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol 2006, 126:1510-1517.
19. Di Lucca J., Guedj M., Lacapere J.J., Fargnoli M.C., Bourillon A., Dieude P., et al. Variants of the xeroderma pigmentosum variant gene (POLH) are associated with melanoma risk. Eur J Cancer 2009.
20. Gershoni-Baruch R., Rosenmann A., Droetto S., Holmes S., Tripathi R.K., Spritz R.A. Mutations of the tyrosinase gene in patients with oculocutaneous albinism from various ethnic groups in Israel. Am J Hum Genet 1994, 54:586-594.
21. Spritz R.A. Molecular genetics of oculocutaneous albinism. Semin Dermatol 1993, 12:167-172.
22. Nan H., Kraft P., Hunter D.J., Han J. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 2009, 125:909-917.
23. Kanetsky P.A., Rebbeck T.R., Hummer A.J., Panossian S., Armstrong B.K., Kricker A., et al. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res 2006, 66:9330-9337.
24. Stratigos A.J., Dimisianos G., Nikolaou V., Poulou M., Sypsa V., Stefanaki I., et al. Melanocortin receptor-1 gene polymorphisms and the risk of cutaneous melanoma in a low-risk southern European population. J Invest Dermatol 2006, 126:1842-1849.
25. Hutton S.M., Spritz R.A. Comprehensive analysis of oculocutaneous albinism among non-Hispanic Caucasians shows that OCA1 is the most prevalent OCA type. J Invest Dermatol 2008, 128:2442-2450.
26. Zahed L., Zahreddine H., Noureddine B., Rebeiz N., Shakar N., Zalloua P., et al. Molecular basis of oculocutaneous albinism type 1 in Lebanese patients. J Hum Genet 2005, 50:317-319.
27. Council M.L., Gardner J.M., Helms C., Liu Y., Cornelius L.A., Bowcock A.M. Contribution of genetic factors for melanoma susceptibility in sporadic US melanoma patients. Exp Dermatol 2009, 18:485-487.