Single-nucleotide polymorphisms in pigment genes and nonmelanoma skin cancer predisposition: A systematic review

British Journal of Dermatology

Volumn 171, Issue 4, 2014, Pages 713-721

  Binstock, M ^a   Hafeez, F ^a   Metchnikoff, C ^a   Arron, S T ^a  

^a UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PIGMENT;

ARTICLE; CANCER PATIENT; CANCER SUSCEPTIBILITY; GENETIC ASSOCIATION; GENETIC SCREENING; HAPLOTYPE; HIGH RISK PATIENT; HUMAN; MEDICAL RESEARCH; MELANOCYTE; MELANOSOME; META ANALYSIS; NON MELANOMA SKIN CANCER; PHENOTYPE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN PIGMENTATION; SYSTEMATIC REVIEW; TREND STUDY; CELL DIFFERENTIATION; GENETICS; PATHOLOGY; PIGMENT DISORDER; PIGMENTATION; SKIN TUMOR;

CELL DIFFERENTIATION; HUMANS; MELANOCYTES; MELANOSOMES; PIGMENTATION; PIGMENTATION DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; SKIN NEOPLASMS;

EID: 84936115283     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/bjd.13283     Document Type: Article

References (98)

1. Howe HL, Wingo PA, Thun MJ, et al,. Annual report to the nation on the status of cancer (1973 through 1998), featuring cancers with recent increasing trends. J Natl Cancer Inst 2001; 93: 824-42.
2. Christenson LJ, Borrowman TA, Vachon CM, et al,. Incidence of basal cell and squamous cell carcinomas in a population younger than 40 years. JAMA 2005; 294: 681-90.
3. Jemal A, Siegel R, Ward E, et al,. Cancer statistics, 2009. CA Cancer J Clin 2009; 59: 225-49.
4. Miller SJ, Alam M, Andersen J, et al,. Basal cell and squamous cell skin cancers. J Natl Compr Canc Netw 2010; 8: 836-64.
5. Dessinioti C, Tzannis K, Sypsa V, et al,. Epidemiologic risk factors of basal cell carcinoma development and age at onset in a Southern European population from Greece. Exp Dermatol 2011; 20: 622-6.
6. Roewert-Huber J, Lange-Asschenfeldt B, Stockfleth E, Kerl H,. Epidemiology and aetiology of basal cell carcinoma. Br J Dermatol 2007; 157 (Suppl. 2): 47-51.
7. Ortonne J,. Photoprotective properties of skin melanin. Br J Dermatol 2002; 146: 7-10.
8. Yamaguchi Y, Takahashi K, Zmudzka BZ, et al,. Human skin responses to UV radiation: pigment in the upper epidermis protects against DNA damage in the lower epidermis and facilitates apoptosis. FASEB J 2006; 20: 1486-8.
9. Tsai KY, Tsao H,. The genetics of skin cancer. Am J Med Genet C Semin Med Genet 2004; 131C: 82-92.
10. Armstrong BK, Kricker A,. The epidemiology of UV induced skin cancer. J Photochem Photobiol, B 2001; 63: 8-18.
11. Brenner M, Hearing VJ,. The protective role of melanin against UV damage in human skin. Photochem Photobiol 2008; 84: 539-49.
12. Simon JD, Peles D, Wakamatsu K, Ito S,. Current challenges in understanding melanogenesis: bridging chemistry, biological control, morphology, and function. Pigment Cell Melanoma Res 2009; 22: 563-79.
13. Rees JL,. Genetics of hair and skin color. Annu Rev Genet 2003; 37: 67-90.
14. Dessinioti C, Stratigos AJ, Rigopoulos D, Katsambas AD,. A review of genetic disorders of hypopigmentation: lessons learned from the biology of melanocytes. Exp Dermatol 2009; 18: 741-9.
15. Nordlund JJ, Boissy RE, Hearing VJ, et al,. (eds). The Pigmentary System: Physiology and Pathophysiology. New York: Oxford University Press, 1998.
16. Quevedo WC, Fitzpatrick TB, Pathak MA, Jimbow K,. Role of light in human skin color variation. Am J Phys Anthropol 1975; 43: 393-408.
17. Astner S, Anderson RR,. Skin phototypes 2003. J Invest Dermatol 2004; 122: doi: 10.1046/j.1523-1747.2003.22251.x.
18. Bliss JM, Ford D, Swerdlow AJ, et al,. Risk of cutaneous melanoma associated with pigmentation characteristics and freckling: systematic overview of 10 case-control studies. The International Melanoma Analysis Group (IMAGE). Int J Cancer 1995; 62: 367-76.
19. Kricker A, Armstrong BK, English DR, Heenan PJ,. Pigmentary and cutaneous risk factors for non-melanocytic skin cancer-a case-control study. Int J Cancer 1991; 48: 650-62.
20. Han J, Colditz GA, Hunter DJ,. Risk factors for skin cancers: a nested case-control study within the Nurses' Health Study. Int J Epidemiol 2006; 35: 1514-21.
21. Green A, Battistutta D,. Incidence and determinants of skin cancer in a high-risk Australian population. Int J Cancer 1990; 46: 356-61.
22. Green A, Battistutta D, Hart V, et al,. Skin cancer in a subtropical Australian population: incidence and lack of association with occupation. The Nambour Study Group. Am J Epidemiol 1996; 144: 1034-40.
23. Zanetti R, Rosso S, Martinez C, et al,. The multicentre south European study 'Helios'. I: skin characteristics and sunburns in basal cell and squamous cell carcinomas of the skin. Br J Cancer 1996; 73: 1440-6.
24. English DR, Armstrong BK, Kricker A, et al,. Demographic characteristics, pigmentary and cutaneous risk factors for squamous cell carcinoma of the skin: a case-control study. Int J Cancer 1998; 76: 628-34.
25. Nan H, Kraft P, Hunter DJ, Han J,. Genetic variants in pigmentation genes, pigmentary phenotypes, and risk of skin cancer in Caucasians. Int J Cancer 2009; 125: 909-17.
26. Newton RA, Cook AL, Roberts DW, et al,. Post-transcriptional regulation of melanin biosynthetic enzymes by cAMP and resveratrol in human melanocytes. J Invest Dermatol 2007; 127: 2216-27.
27. Sturm RA,. Molecular genetics of human pigmentation diversity. Hum Mol Genet 2009; 18: R9-17.
28. Scherer D, Kumar R,. Genetics of pigmentation in skin cancer-a review. Mutat Res 2010; 705: 141-53.
29. Gerstenblith MR, Shi J, Landi MT,. Genome-wide association studies of pigmentation and skin cancer: a review and meta-analysis. Pigment Cell Melanoma Res 2010; 23: 587-606.
30. Chatzinasiou F, Lill CM, Kypreou K, et al,. Comprehensive field synopsis and systematic meta-analyses of genetic association studies in cutaneous melanoma. J Natl Cancer Inst 2011; 103: 1227-35.
31. Borovansky J, Riley PA, (eds). Melanins and Melanosomes: Biosynthesis, Structure, Physiological and Pathological Functions. Chichester: Wiley-Blackwell, 2011.
32. Ferrucci LM, Cartmel B, Molinaro AM, et al,. Host phenotype characteristics and MC1R in relation to early-onset basal cell carcinoma. J Invest Dermatol 2012; 132: 1272-9.
33. Nan H, Xu M, Kraft P, et al,. Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma. Hum Mol Genet 2011; 20: 3718-24.
34. Han J, Qureshi AA, Nan H, et al,. A germline variant in the interferon regulatory factor 4 gene as a novel skin cancer risk locus. Cancer Res 2011; 71: 1533-9.
35. Stacey SN, Sulem P, Gudbjartsson DF, et al,. Germline sequence variants in TGM3 and RGS22 confer risk of basal cell carcinoma. Hum Mol Genet 2014; 23: 3045-53.
36. Gudbjartsson DF, Sulem P, Stacey SN, et al,. ASIP and TYR pigmentation variants associate with cutaneous melanoma and basal cell carcinoma. Nat Genet 2008; 40: 886-91.
37. Kosiniak-Kamysz A, Pos̈piech E, Wojas-Pelc A, et al,. Potential association of single nucleotide polymorphisms in pigmentation genes with the development of basal cell carcinoma. J Dermatol 2012; 39: 693-8.
38. Zhang M, Song F, Liang L, et al,. Genome-wide association studies identify several new loci associated with pigmentation traits and skin cancer risk in European Americans. Hum Mol Genet 2013; 22: 2948-59.
39. Pavan WJ, Raible DW,. Specification of neural crest into sensory neuron and melanocyte lineages. Dev Biol 2012; 366: 55-63.
40. Tomita Y, Suzuki T, Tomita Y, Suzuki T,. Genetics of pigmentary disorders. Am J Med Genet C Semin Med Genet 2004; 131C: 75, 75-81, 81.
41. Thomas AJ, Erickson CA,. The making of a melanocyte: the specification of melanoblasts from the neural crest. Pigment Cell Melanoma Res 2008; 21: 598-610.
42. Raposo G, Tenza D, Murphy DM, et al,. Distinct protein sorting and localization to premelanosomes, melanosomes, and lysosomes in pigmented melanocytic cells. J Cell Biol 2001; 152: 809-24.
43. Theos AC, Truschel ST, Raposo G, Marks MS,. The Silver locus product Pmel17/gp100/Silv/ME20: controversial in name and in function. Pigment Cell Res 2005; 18: 322-36.
44. Hurbain I, Geerts WJC, Boudier T, et al,. Electron tomography of early melanosomes: implications for melanogenesis and the generation of fibrillar amyloid sheets. Proc Natl Acad Sci U S A 2008; 105: 19726-31.
45. Kushimoto T, Valencia JC, Costin G-E, et al,. The Seiji memorial lecture: the melanosome: an ideal model to study cellular differentiation. Pigment Cell Res 2003; 16: 237-44.
46. Giordano F, Bonetti C, Surace EM, et al,. The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition. Hum Mol Genet 2009; 18: 4530-45.
47. Incerti B, Cortese K, Pizzigoni A, et al,. Oa1 knock-out: new insights on the pathogenesis of ocular albinism type 1. Hum Mol Genet 2000; 9: 2781-8.
48. Hearing VJ,. Biochemical control of melanogenesis and melanosomal organization. J Investig Dermatol Symp Proc 1999; 4: 24-8.
49. Sitaram A, Piccirillo R, Palmisano I, et al,. Localization to mature melanosomes by virtue of cytoplasmic dileucine motifs is required for human OCA2 function. Mol Biol Cell 2009; 20: 1464-77.
50. Wakamatsu K, Ohtara K, Ito S,. Chemical analysis of late stages of pheomelanogenesis: conversion of dihydrobenzothiazine to a benzothiazole structure. Pigment Cell Melanoma Res 2009; 22: 474-86.
51. Greco G, Wakamatsu K, Panzella L, et al,. Isomeric cysteinyldopas provide a (photo)degradable bulk component and a robust structural element in red human hair pheomelanin. Pigment Cell Melanoma Res 2009; 22: 319-27.
52. Sakai C, Ollmann M, Kobayashi T, et al,. Modulation of murine melanocyte function in vitro by agouti signal protein. EMBO J 1997; 16: 3544-52.
53. Saeki H, Oikawa A,. Effects of pH and type of sugar in the medium on tyrosinase activity in cultured melanoma cells. J Cell Physiol 1978; 94: 139-45.
54. Brilliant MH,. The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH. Pigment Cell Res 2001; 14: 86-93.
55. Ginger RS, Askew SE, Ogborne RM, et al,. SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis. J Biol Chem 2008; 283: 5486-95.
56. Newton JM, Cohen-Barak O, Hagiwara N, et al,. Mutations in the human orthologue of the mouse underwhite gene (uw) underlie a new form of oculocutaneous albinism, OCA4. Am J Hum Genet 2001; 69: 981-8.
57. Andresen PA, Nymoen DA, Kjærheim K, et al,. Susceptibility to cutaneous squamous cell carcinoma in renal transplant recipients associates with genes regulating melanogenesis independent of their role in pigmentation. Biomark Cancer 2013; 5: 41-7.
58. Lin W, Qureshi AA, Kraft P, et al,. ASIP genetic variants and the number of non-melanoma skin cancers. Cancer Causes Control 2011; 22: 495-501.
59. Kirkin AF, Dzhandzhugazyan K, Zeuthen J,. The immunogenic properties of melanoma-associated antigens recognized by cytotoxic T lymphocytes. Exp Clin Immunogenet 1998; 15: 19-32.
60. Staleva L, Manga P, Orlow SJ,. Pink-eyed dilution protein modulates arsenic sensitivity and intracellular glutathione metabolism. Mol Biol Cell 2002; 13: 4206-20.
61. Stacey SN, Sulem P, Masson G, et al,. New common variants affecting susceptibility to basal cell carcinoma. Nat Genet 2009; 41: 909-14.
62. Wei A-H, Li W,. Hermansky-Pudlak syndrome: pigmentary and non-pigmentary defects and their pathogenesis. Pigment Cell Melanoma Res 2013; 26: 176-92.
63. Wu X, Bowers B, Rao K, et al,. Visualization of melanosome dynamics within wild-type and dilute melanocytes suggests a paradigm for myosin V function in vivo. J Cell Biol 1998; 143: 1899-918.
64. Raposo G, Marks MS,. Melanosomes-dark organelles enlighten endosomal membrane transport. Nat Rev Mol Cell Biol 2007; 8: 786-97.
65. Pastural E, Barrat FJ, Dufourcq-Lagelouse R, et al,. Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene. Nat Genet 1997; 16: 289-92.
66. Pastural E, Ersoy F, Yalman N, et al,. Two genes are responsible for Griscelli syndrome at the same 15q21 locus. Genomics 2000; 63: 299-306.
67. Suzuki I, Im S, Tada A, et al,. Participation of the melanocortin-1 receptor in the UV control of pigmentation. J Investig Dermatol Symp Proc 1999; 4: 29-34.
68. Cui R, Widlund HR, Feige E, et al,. Central role of p53 in the suntan response and pathologic hyperpigmentation. Cell 2007; 128: 853-64.
69. Rouzaud F, Hearing VJ,. Regulatory elements of the melanocortin 1 receptor. Peptides 2005; 26: 1858-70.
70. Dessinioti C, Antoniou C, Katsambas A, Stratigos AJ,. Melanocortin 1 receptor variants: functional role and pigmentary associations. Photochem Photobiol 2011; 87: 978-87.
71. Smith R, Healy E, Siddiqui S, et al,. Melanocortin 1 receptor variants in an Irish population. J Invest Dermatol 1998; 111: 119-22.
72. Jones FI, Ramachandran S, Lear J, et al,. The melanocyte stimulating hormone receptor polymorphism: association of the V92M and A294H alleles with basal cell carcinoma. Clin Chim Acta 1999; 282: 125-34.
73. Bastiaens MT, ter Huurne JA, 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: 884-94.
74. Box NF, Duffy DL, Irving RE, et al,. Melanocortin-1 receptor genotype is a risk factor for basal and squamous cell carcinoma. J Invest Dermatol 2001; 116: 224-9.
75. Dwyer T, Stankovich JM, 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: 826-33.
76. Liboutet M, Portela M, Delestaing G, et al,. MC1R and PTCH gene polymorphism in French patients with basal cell carcinomas. J Invest Dermatol 2006; 126: 1510-17.
77. Han J, Kraft P, Colditz GA, et al,. Melanocortin 1 receptor variants and skin cancer risk. Int J Cancer 2006; 119: 1976-84.
78. Scherer D, Bermejo JL, Rudnai P, et al,. MC1R variants associated susceptibility to basal cell carcinoma of skin: interaction with host factors and XRCC3 polymorphism. Int J Cancer 2008; 122: 1787-93.
79. Brudnik U, Branicki W, Wojas-Pelc A, Kanas P,. 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. Exp Dermatol 2009; 18: 167-74.
80. Gunn TM, Miller KA, He L, et al,. The mouse mahogany locus encodes a transmembrane form of human attractin. Nature 1999; 398: 152-6.
81. He L, Gunn TM, Bouley DM, et al,. A biochemical function for attractin in agouti-induced pigmentation and obesity. Nat Genet 2001; 27: 40-7.
82. Nan H, Qureshi AA, Han J,. Melanoma susceptibility variants on chromosome 20q11.22 are associated with pigmentary traits and the risk of nonmelanoma skin cancer. Br J Dermatol 2010; 162: 461-3.
83. Wintzen M, Gilchrest BA,. Proopiomelanocortin, its derived peptides, and the skin. J Invest Dermatol 1996; 106: 3-10.
84. Luger TA, Scholzen T, Grabbe S,. The role of alpha-melanocyte-stimulating hormone in cutaneous biology. J Investig Dermatol Symp Proc 1997; 2: 87-93.
85. Luger TA, Scholzen T, Brzoska T, et al,. Cutaneous immunomodulation and coordination of skin stress responses by alpha-melanocyte-stimulating hormone. Ann N Y Acad Sci 1998; 840: 381-94.
86. Chakraborty A, Slominski A, Ermak G, et al,. Ultraviolet B and melanocyte-stimulating hormone (MSH) stimulate mRNA production for alpha MSH receptors and proopiomelanocortin-derived peptides in mouse melanoma cells and transformed keratinocytes. J Invest Dermatol 1995; 105: 655-9.
87. Chakraborty AK, Funasaka Y, Slominski A, et al,. Production and release of proopiomelanocortin (POMC) derived peptides by human melanocytes and keratinocytes in culture: regulation by ultraviolet B. Biochim Biophys Acta 1996; 1313: 130-8.
88. Luger TA, Schwarz T, Kalden H, et al,. Role of epidermal cell-derived alpha-melanocyte stimulating hormone in ultraviolet light mediated local immunosuppression. Ann N Y Acad Sci 1999; 885: 209-16.
89. Lunec J, Pieron C, Sherbet GV, Thody AJ,. Alpha-melanocyte-stimulating hormone immunoreactivity in melanoma cells. Pathobiol J Immunopathol Mol Cell Biol 1990; 58: 193-7.
90. Lunec J, Pieron C, Thody AJ,. MSH receptor expression and the relationship to melanogenesis and metastatic activity in B16 melanoma. Melanoma Res 1992; 2: 5-12.
91. De Luca M, Siegrist W, Bondanza S, et al,. Alpha melanocyte stimulating hormone (alpha MSH) stimulates normal human melanocyte growth by binding to high-affinity receptors. J Cell Sci 1993; 105 (Pt 4): 1079-84.
92. Suzuki I, Cone RD, Im S, et al,. Binding of melanotropic hormones to the melanocortin receptor MC1R on human melanocytes stimulates proliferation and melanogenesis. Endocrinology 1996; 137: 1627-33.
93. Slominski A, Paus R, Wortsman J,. Can some melanotropins modulate keratinocyte proliferation? J Invest Dermatol 1991; 97: 747.
94. Chakraborty AK, Funasaka Y, Pawelek JM, et al,. Enhanced expression of melanocortin-1 receptor (MC1-R) in normal human keratinocytes during differentiation: evidence for increased expression of POMC peptides near suprabasal layer of epidermis. J Invest Dermatol 1999; 112: 853-60.
95. Luger TA, Scholzen TE, Brzoska T, Böhm M,. New insights into the functions of alpha-MSH and related peptides in the immune system. Ann N Y Acad Sci 2003; 994: 133-40.
96. Kalden DH, Scholzen T, Brzoska T, Luger TA,. Mechanisms of the antiinflammatory effects of alpha-MSH. Role of transcription factor NF-kappa B and adhesion molecule expression. Ann N Y Acad Sci 1999; 885: 254-61.
97. Roberts DW, Newton RA, Beaumont KA, et al,. Quantitative analysis of MC1R gene expression in human skin cell cultures. Pigment Cell Res 2006; 19: 76-89.
98. Rees JL,. Vexed by red-headed conundrums. J Invest Dermatol 2010; 130: 1771-3.