The contribution of melanocortin 1 receptor gene polymorphisms and the agouti signalling protein gene 8818A>G polymorphism to cutaneous melanoma and basal cell carcinoma in a Polish population

Experimental Dermatology

Volumn 18, Issue 2, 2009, Pages 167-174

  Brudnik, Urszula ^a   Branicki, Wojciech ^b   Wojas Pelc, Anna ^a   Kanas, Piotr ^c  

^a JAGIELLONIAN UNIVERSITY MEDICAL COLLEGE   (Poland)

^b INSTITUTE OF FORENSIC RESEARCH   (Poland)

^c Surgery Department of Louis Rydygier Voivodship Specialistic Hospital   (Poland)

Author keywords

ASIP; BCC; MC1R; Melanoma; Skin cancer

Indexed keywords

AGOUTI PROTEIN; MELANOCORTIN 1 RECEPTOR;

ADULT; AGED; AMINO ACID SEQUENCE; ARTICLE; BASAL CELL CARCINOMA; CANCER RISK; CONTROLLED STUDY; EXON; FEMALE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC VARIABILITY; HAIR COLOR; HUMAN; MAJOR CLINICAL STUDY; MALE; MELANOMA; MOLECULAR INTERACTION; MUTATIONAL ANALYSIS; PHENOTYPE; POLAND; SEQUENCE ANALYSIS; SKIN CARCINOGENESIS; SKIN COLOR; SKIN PIGMENTATION;

AGED; AGOUTI SIGNALING PROTEIN; CARCINOMA, BASAL CELL; CASE-CONTROL STUDIES; EYE COLOR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAIR COLOR; HUMANS; MALE; MELANOMA; MIDDLE AGED; PHENOTYPE; POLAND; POLYMORPHISM, GENETIC; RECEPTOR, MELANOCORTIN, TYPE 1; SKIN NEOPLASMS; SKIN PIGMENTATION;

EID: 58249125574     PISSN: 09066705     EISSN: 16000625     Source Type: Journal    
DOI: 10.1111/j.1600-0625.2008.00760.x     Document Type: Article

References (48)

1. De Vries E, Coebergh J W. Cutaneous malignant melanoma in Europe. Eur J Cancer 2004: 40: 2355-2366.
2. Sturm R A. Skin colour and skin cancer-MC1R, the genetic link. Melanoma Res 2002: 12: 405-416.
3. Nijsten T, Leys C, Verbruggen K et al. Case-control study to identify melanoma risk factors in the Belgian population: The significance of clinical examination. J Eur Acad Dermatol Venereol 2005: 19: 332-339.
4. Ruka W, Nowecki Z, Rutkowski P. Skin Melanoma in Adults, 1st edn. Warsaw: Medipage, 2005.
5. De Vries E, Bray F, Coebergh J W W, Parkin D M. Changing epidemiology of malignant cutaneous melanoma in Europe 1969-97. Rising trends in incidence and mortality, but recent stabilisations in Western Europe and decreases in Scandinavia. Int J Cancer 2003: 107: 119-126.
6. Mac Kie R M, Bray C A, Hole D J et al. Scottish Melanoma Group. Incidence of and survival from malignant melanoma in Scotland: An epidemiological study. Lancet 2002: 360: 587-591.
7. Stang A, Jockel K H. Changing patterns of skin melanoma mortality in West Germany from 1968 through 1999. Ann Epidemiol 2003: 13: 436-442.
8. Cohn-Cedermark G, Mansson-Brahme E, Rutqvist L E, Larsson O, Johansson H, Ringborg U. Trends in mortality from malignant melanoma in Sweden, 1970-1996. Cancer 2000: 89: 348-355.
9. Rataj D, Jankowiak B, Krajewska-Kułak E et al. Quality-of-life evaluation in an interferon therapy after radical surgery in cutaneous melanoma patients. Cancer Nurs 2005: 28: 172-178.
10. Braun Falco O, Plewig G, Wolff H H, Burgdorf W H C. Malignant epithelial tumors. In: Dermatology, 2nd edn. Berlin, Heidelberg, New York: Springer-Verlag, 2000, 1463-1489
11. Flanagan N, Healy E, Ray A et al. Pleiotropic effects of the melanocortin 1 receptor (MC1R) gene on human pigmentation. Hum Mol Genet 2000: 9: 2531-2537.
12. Valverde P, Healy E, Jackson I et al. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet 1995: 11: 328-330.
13. Wong T H, Rees J L. The relation between melanocortin 1 receptor (MC1R) variation and the generation of phenotypic diversity in the cutaneous response to ultraviolet radiation. Peptides 2005: 10: 1965-1971.
14. Atoyan R Y, Sharov A A, Eller M S, Sargsyan A, Botchkarev V A, Gilchrest B A. Oligonucleotide treatment increases eumelanogenesis, hair pigmentation and melanocortin-1 receptor expression in the hair follicle. Exp Dermatol 2007: 16(8): 671-677.
15. Rees J L. The melanocortin 1 receptor (MC1R): More than just red hair. Pigment Cell Res 2000: 13: 135-140.
16. Ranadive N S, Shirwadkar S, Persad S, Menon I A. Effects of melanin-induced free radicals on the isolated rat peritoneal mast cells. J Invest Dermatol 1986: 86: 303-307.
17. Bishop J A N, Bishop D T. The genetics of susceptibility to cutaneous melanoma. Drugs Today, 2005: 41: 193-203.
18. Hennessy A, Oh C, Diffey B, Wakamatsu K, Ito S, Rees J. Eumelanin and pheomelanin concentrations in human epidermis before and after UVB irradiation. Pigment Cell Res 2005: 18: 220-223.
19. Suzuki I, Tada A, Ollmann M M et al. Agouti signaling protein inhibits melanogenesis and the response of human melanocytes to alpha-melanotropin. J Invest Dermatol 1997: 108: 838-842.
20. Voisey J, Van Daal A. Agouti: From mouse to man, from skin to fat. Pigment Cell Res 2002: 15: 10-18.
21. Palmer J S, Duffy D L, Box N F et al. Melanocortin-1 receptor polymorphisms and risk of melanoma: Is the association explained solely by pigmentation phenotype? Am J Hum Genet 2000: 66: 176-186.
22. Kennedy C, Huurne J, Berkhout M et al. Melanocortin 1 receptor (MC1R) gene variants are associated with an increased risk for cutaneous melanoma which is largely independent of skin type and hair color. J Invest Dermatol 2001: 117: 294-300.
23. Kanetsky P, Swoyer J, Panossian S, Holmes R, Guerry D, Rebbeck T. A polymorphism in the agouti signaling protein gene is associated with human pigmentation. Am J Hum Genet 2002: 70: 770-775.
24. Bonilla C, Boxill L A, McDonald S A et al. The 8818G allele of the agouti signaling protein (ASIP) gene is ancestral and is associated with darker skin color in African Americans. Hum Genet 2005: 116: 402-406.
25. Bastiaens M, Huurne J, Kielich C et al. Melanocortin-1 receptor gene variants determine the risk of nonmelanoma skin cancer independently of fair skin and red hair. Am J Hum Genet 2001: 68: 884-894.
26. Pastorino L, Cusano R, Bruno W et al. Novel MC1R variants in Ligurian melanoma patients and controls. Hum Mutat 2004: 24: 103-110.
27. Landi M T, Kanetsky P A, Tang S et al. MC1R, ASIP, and DNA repair in sporadic and familial melanoma in a mediterranean population. J Natl Cancer Inst 2005: 97: 998-1007.
28. Sambrook J, Fritsch E F, Maniatis T. Molecular Cloning: A laboratory manual, 2nd edn. New York: Cold Spring Harbor Press, 1989.
29. Branicki W, Brudnik U, Kupiec T, Wolańska-Nowak P, Wojas-Pelc A. Determination of phenotype associated SNPs in the MC1R gene. J Forensic Sci, 2007: 52: 349-354.
30. Branicki W, Wolańska-Nowak P, Brudnik U, Kupiec T, Szymańska K, Wojas-Pelc A. Forensic application of a rapid test for red hair colour prediction and sex determination. Problems Forensic Sci 2007: 69: 37-51.
31. Sturm R A, Duffy D L, Box N F et al. Genetic association and cellular function of MC1R variant alleles in human pigmentation. Ann N Y Acad Sci 2003: 994: 348-358.
32. Kanetsky P A, Rebbeck T R, Hummer A J et al. Population-based study of natural variation in the melanocortin-1 receptor gene and melanoma. Cancer Res 2006: 18: 9330-9337.
33. Bishop D T, Demenais F, Goldstein A M et al. Geographical variation in the penetrance of CDKN2a mutations in melanoma. J Natl Cancer Inst 2002: 19: 894-903.
34. Piepkorn M. Melanoma genetics: An update with focus on the CDK2A (p16)/ ARF tumor suppressors. J Am Acad Dermatol 2000: 42: 705-722.
35. Tsao H, Goel V, Wu H et al. Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma. J Invest Dermatol 2004: 122: 337-341.
36. Lee Y W, Roh B H, Ki C S et al. Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. Clin Exp Dermatol 2007: 32: 202-203.
37. Ichii Jones F, Lear J T, Heagerty A H et al. Susceptibility to melanoma: influence of skin type and polymorphism in the melanocyte stimulating hormone receptor gene. J Invest Dermatol 1998: 111: 218-221.
38. Smith R, Healy E, Siddiqui S et al. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 1998: 111: 119-122.
39. Valverde P, Healy E, Sikkink S et al. The Asp84Glu variant of the melanocortin 1 receptor (MC1R) is associated with melanoma. Hum Mol Genet 1996: 10: 1663-1666.
40. Stratigos A J, Dimisianos G, Nikolaou V 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.
41. Matichard E, Verpillat P, Meziani R et al. Melanocortin 1 receptor (MC1R) gene variants may increase the risk of melanoma in France independently of clinical risk factors and UV exposure. J Med Genet 2004: 41: e13.
42. Dwyer T, Stankovich J M, Blizzard L et al. Does the addition of information on genotype improve prediction of the risk of melanoma and nonmelanoma skin cancer beyond that obtained from skin phenotype? Am J Epidemiol 2004: 159: 826-833.
43. Newton R A, Roberts D W, Leonard J H, Sturm R A. Human melanocytes expressing MC1R variant alleles show impaired activation of multiple signaling pathways. Peptides 2007: 28: 2387-2396.
44. Scott M C, Wakamatsu K, Ito S et al. Human melanocortin 1 receptor variants, receptor function and melanocyte response to UV radiation. J Cell Sci, 2002: 1: 115.
45. Box N F, Duffy D L, Irvig R E et al. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol 2001: 116: 224-229.
46. Box N F, Duffy D L, Chen W et al. MC1R genotype modifies risk of melanoma in families segregating CDKN2A mutations. Am J Hum Genet 2001: 69: 765-773.
47. Reifenberger J, Wolter M, Knobbe C B et al. Somatic mutations in the PTCH, SMOH, SUFUH and TP53 genes in sporadic basal cell carcinomas. Br J Dermatol 2005: 152: 43-51.
48. Tsai K Y, Tsao H. The genetics of skin cancer. Am J Med Genet C Semin Med Genet 2004: 131C: 82-92.