Detoxifying enzyme genotypes and susceptibility to cutaneous malignancy

British Journal of Dermatology

Volumn 142, Issue 1, 2000, Pages 8-15

  Lear, J T ^a   Smith, A G ^b   Strange, R C ^c   Fryer, A A ^c  

^a BRISTOL ROYAL INFIRMARY   (United Kingdom)

^b UNIVERSITY HOSPITALS OF NORTH MIDLANDS NHS TRUST   (United Kingdom)

^c KEELE UNIVERSITY   (United Kingdom)

Author keywords

Detoxifying enzyme genotypes; Genetic susceptibility; Skin cancer; Ultraviolet radiation

Indexed keywords

CANCER RISK; DETOXIFICATION; DNA DAMAGE; DNA REPAIR; GENE MUTATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; OXIDATIVE STRESS; PRIORITY JOURNAL; RADIATION EXPOSURE; REVIEW; SKIN CANCER; TUMOR SUPPRESSOR GENE; ULTRAVIOLET RADIATION;

CARCINOMA, BASAL CELL; CYTOCHROME P-450 CYP1A1; DNA REPAIR; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUTATHIONE TRANSFERASE; HUMANS; OXIDATIVE STRESS; POLYMORPHISM, GENETIC; SKIN NEOPLASMS;

EID: 0033983385     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.2000.03339.x     Document Type: Review

References (71)

1. Boring CC, Squires TS, Tong T, Montgomery S. Cancer statistics. 1994 CA Cancer J Clin 1994; 44: 7-26.
2. Scotto J, Kopf A, Urbach F. Non-melanoma skin cancer among caucasians in four areas of the United States. Cancer 1974; 34: 1333-8.
3. Miller DL, Weinstock MA. Non-melanoma skin cancer in the United States: incidence. J Am Acad Dermatol 1994; 30: 774-8.
4. Armstrong BK, Kricker A. Cutaneous melanoma. Cancer Surv 1994; 19-20: 219-40.
5. Russell-Jones R. Ozone depletion and cancer risk. Lancet 1987; ii: 443-6.
6. Karagas MR, Stukel TA, Greenberg R et al. Risk of subsequent basal cell carcinoma and squamous cell carcinoma of the skin among patients with prior skin cancer. JAMA 1992; 267: 3305-10.
7. Peak JG, Peak MJ, Carnes BA. Induction of direct and indirect single strand breaks in human cell DNA by near and far ultraviolet radiation: action spectrum and mechanisms. Photochem Photobiol 1987; 45: 381-7.
8. Karagas MR for the Skin Cancer Prevention Study Group. Occurrence of cutaneous basal cell and squamous cell malignancies among those with a prior history of skin cancer. J Invest Dermatol 1994; 102: 10-3S.
9. Yeh S, How SW, Lin CS. Arsenical cancer of the skin. Cancer 1968; 21: 312-39.
10. Smith G, Stanley LA, Sim E et al. Metabolic polymorphisms and cancer susceptibility. Cancer Surv 1995; 25: 27-65.
11. Ryberg D, Kure E, Lystad S. p53 mutations in lung tumours: relationship to putative susceptibility markers for cancer. Cancer Res 1994; 54: 1551-5.
12. Sarhanis P, Redman C, Perrett C et al. Epithelial ovarian cancer: influence of polymorphism at the gluathione S-transferase GSTM1 and GSTT1 loci on p53 expression. Br J Cancer 1996; 74: 1757-61.
13. Hahn H, Wicking C, Zaphiropoulos PG et al. Mutations of the human homologue of Drosophila patched in the naevoid basal cell carcinoma syndrome. Cell 1996; 85: 841-51.
14. Johnson RL, Rothman AL, Xie J et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science 1996; 272: 1668-71.
15. Quinn AG, Sikkink S, Rees JL. Basal cell carcinomas and squamous cell carcinomas of human skin show distinct patterns of chromosome loss. Cancer Res 1994; 54: 4756-9.
16. Gailani MR, Stahle-Backdahl M, Leffell DJ et al. The role of the human homologue of Drosophila patched in sporadic basal cell carcinomas. Nature Genet 1996; 14: 78-81.
17. Sidransky D. Is human patched the gatekeeper of common skin cancers? Nature Genet 1996; 14: 7-8.
18. Kripke ML. Ultraviolet radiation and immunology: something new under the sun. Cancer Res 1994; 54: 6102-5.
19. Setlow RB. Cyclobutane type pyrimidine dimers in polynucleotides. Science 1966; 153: 379-80.
20. Setlow RB. Deficient human disorders and cancer. Nature 1978; 271: 713-7.
21. Camplejohn RS. DNA damage and repair in melanoma and non-melanoma skin cancer. In: Cancer Survey, Vol. 26: Skin Cancer (Leigh IM, Newton-Bishop JA, Kripke ML, eds) Cold Spring Harbor, New York: Cold Spring Harbor Laboratory Press, 1996:193-206
22. Black HS. Potential involvement of free radical reactions in ultraviolet light-mediated cutaneous damage. Photochem Photobiol 1987; 46: 213-21.
23. Touati D. The molecular genetics of superoxide dismutase in E. coli. An approach to understanding the biological role and regulation of SODs in relation to other elements of the defence system against oxygen toxicity. Free Rad Res Commun 1989; 8: 1-9.
24. Maccarone M, Bladergroen MR, Rosato N, Finazzi-Agro AF. Role of lipid peroxidation in electroporation-induced cell permeability. Biochem Biophys Res Commun 1995; 209: 417-25.
25. Hayes JD, Strange RC. Potential contribution of the glutathione S-transferase supergene family to resistance to oxidative stress. Free Rad Res Commun 1995; 22: 193-207.
26. Forrester LM, Henderson CJ, Glancey MG. Relative expression of cytochrome P450 isoenzymes in human liver and association with the metabolism of drugs and xenobiotics. Biochem J 1992; 281: 359-68.
27. Rannug A, Rannug U, Rosenkranz HS et al. Certain photo-oxidised derivatives of tryptophan bind with very high affinity to the Ah receptor and are likely to be endogenous signal substances. J Biol Chem 1987; 262: 15422-7.
28. Kawajiri K, Nakachi K, Imai K. Identification of genetically high risk individuals to lung cancer by DNA polymorphisms of the cytochrome P4501A1 gene. FEBS Lett 1990; 263: 131-3.
29. Rushmore TH, Pickett CB. Glutathione S-transferases, structure, regulation and therapeutic implications. J Biol Chem 1993; 268: 11475-8.
30. Board P, Coggan M, Johnson P et al. Genetic heterogeneity of the human GST; a complex of gene families. Pharmacol Ther 1990; 48: 357-69.
31. Board PG, Baker RT, Chelvanayagam G, Jermiin LS. Zeta, a novel class of glutathione transferases in a range of species from plants to humans. Biochem J 1997; 328: 929-35.
32. Sies H, Ketterer B, eds. Glutathione Conjugation: Mechanisms and Biological Significance. New York: Academic Press, 1988.
33. Ketterer B, Taylor J, Meyer D et al. Some functions of glutathione transferases. In: Structure and Function of Glutathione Transferases (Tew K, Mannervik B, Mantle TJ et al. eds). Boca Raton: CRC Press, 1993: 15-27.
34. Warwick AP, Sarhanis P, Redman C et al. Theta class glutathione S-transferase GSTT1 genotypes and susceptibility to cervical neoplasia: interactions with GSTM1, CYP2D6 and smoking. Carcinogenesis 1994; 15: 2841-5.
35. D'Errico A, Taioli E, Chen X, Vineis P. Genetic metabolic polymorphisms and the risk of cancer: a review of the literature. Biomarkers 1996; 1: 149-73.
36. Inskip A, Elexperu-Camiruaga J, Buxton N et al. Identification of polymorphism at the glutathione-S-transferase, GSTM3 locus: evidence for linkage with GSTM1*A. Biochem J 1995; 312: 713-6.
37. Ali-Osman F, Akande O, Antoun G et al. Molecular cloning, characterisation, and expression in E. coli of full-length cDNAs of three human glutathione S-transferase pi gene variants. Evidence for differential catalytic activity of the encoded proteins. J Biol Chem 1997; 272: 10004-12.
38. Yengi L, Inskip A, Gilford J et al. Polymorphism at the glutathione S-transferase, GSTM3 locus: interactions with cytochrome P450 and glutathione S-transferase genotypes as risk factors for cutaneous basal cell carcinoma. Cancer Res 1996; 56: 1974-7.
39. Henderson CJ, Smith AG, Ure J et al. Increased skin tumorigenesis in mice lacking pi class gluathione S-transferases. Proc Natl Acad Sci USA 1998; 95: 5275-80.
40. Xia C, Taylor JB, Spencer SR, Ketterer B. The human glutathione S-transferase P1-1 gene: modulation of expression by retinoic acid and insulin. Biochem J 1993; 292: 845-50.
41. Harries LW, Stubbins MJ, Forman D et al. Identification of genetic polymorphisms at the glutathione S-transferase pi locus and association with susceptibility to bladder, testicular and prostate cancer. Carcinogenesis 1997; 18: 641-4.
42. Matthias C, Brockmuhl U, Jahnke V et al. The gluathione S-transferase GSTP1 polymorphism: effects on susceptibility to oral/pharyngeal and laryngeal carcinomas. Pharmacogenetics 1998; 8: 1-6.
43. Heagerty AHM, Fitzgerald D, Smith A et al. Glutathione S-transferase GSTM1 phenotypes and protection against cutaneous malignancy. Lancet 1994; 343: 266-8.
44. Heagerty A, Smith A, English J et al. Susceptibility to multiple cutaneous basal cell carcinomas: significant interactions between glutathione-S-transferase GSTM1 genotypes, skin type and male gender. Br J Cancer 1996; 73: 44-8.
45. Lear JT, Heagerty AHM, Smith A et al. Cutaneous basal cell carcinomas: influence of glutathione S-transferase (GSTM1, GSTT1) and cytochrome P450 (CYP2D6, CYP1A1) polymorphisms on numbers and rate of accrual of primary tumours. Carcinogenesis 1996; 17: 1891-6.
46. Lear JT, Heagerty A, Smith A et al. Polymorphism in detoxifying enzymes and susceptibility to skin cancer. Photochem Photobiol 1996: 63: 424-8.
47. Shanley SM, Chenevix-Trench G, Palmer J, Hayward N. Glutathione S-transferase GSTM1 null genotype is not over-represented in Australian patients with naevoid basal cell carcinoma syndrome or sporadic melanoma. Carcinogenesis 1995; 16: 2003-4.
48. Lear JT, Heagerty AHM, Smith A et al. Truncal site and detoxifying enzyme polymorphisms significantly reduce time to presentation of next cutaneous basal cell carcinoma. Carcinogenesis 1997; 18: 1499-503.
49. Lear JT, Strange RC, Fryer AA. Relationship between sunlight exposure and a key genetic alteration in basal cell carcinoma. J Natl Cancer Inst 1997; 89: 454-5.
50. Lear JT, Smith AG, Bowers B et al. Truncal tumour site is associated with high risk of multiple cutaneous basal cell carcinoma and is influenced by glutathione S-transferase, GSTT1 and cytochrome P450, CYP1A1 genotypes and their interactions. J Invest Dermatol 1997; 108: 519-22.
51. Lear JT, Tan BB, Smith AG et al. Risk factors for basal cell carcinoma in the United Kingdom: a matched case control study in 806 patients. J R Soc Med 1997; 90: 371-4.
52. Ollier W, Davies E, Snowden N et al. Homozygosity for null alleles of glutathione S-transferase GSTM1 is associated with the Ro+/La- autoantibody profile in SLE. Arthritis Rheum 1996; 39: 1763-4.
53. Kerb R, Brockmuller J, Reum T, Roots I. Deficiency of glutathione S-transferase T1 and M1 as heritable factors of increased cutaneous UV sensitivity. J Invest Dermatol 1997; 108: 229-32.
54. Ramachandran S, Lear JT, Ramsey H et al. Presentation with multiple cutaneous basal cell carcinomas: association of glutathione S-transferase and cytochrome P450 genotypes with clinical phenotype. Cancer Epidemiol Biomarkers Prevention 1999; 8: 61-7.
55. Raunio H, Pasanen M, Maenpaa J et al. Expression of extrahepatic cytochrome P450 in humans. In: Advances in Drug Metabolism in Man (Pacifici GM, Fracchia GN, eds). Directorate-General Science, Research and Development, European Commission. 1995: 233-87.
56. Nebert DW. Drug-metabolizing enzymes in ligand-modulated transcription. Biochem Pharmacol 1994; 47: 25-37.
57. Vecchini F, Lenoir-Viale MC, Cathelineau C et al. Presence of a retinoid responsive element in the promoter region of the human cytochrome P4501A1 gene. Biochem Biophys Res Commun 1994; 201: 1205-12.
58. Spurr NK, Gough AC, Stevenson K, Wolf CR. Msp1 polymorphism detected with a cDNA probe for the P450, 1 family on chromosome 15. Nucleic Acids Res 1987; 15: 5901.
59. Hayashi SI, Watanabe J, Nakachi K, Kawajiri K. Genetic linkage of lung cancer-associated Msp1 polymorphisms with amino acid replacement in the heme binding region of the cytochrome P4501A1 gene. J Biochem 1991; 110: 407-11.
60. Gough AC, Smith CAD, Howell SM. Localisation of the CYP2D gene locus to human chromosome 22q, 13.1 by polymerase chain reaction, in situ hybridisation and linkage analysis. Genomics 1993; 15: 430-2.
61. Kimura S, Umeno M, Skoda RC. The human debrisoquine 4-hydroxylase (CYP2D) locus: sequence and identification of the polymorphic CYP2D6 gene, a related gene and a pseudogene. Am J Hum Genet 1989; 45: 889-904.
62. Mahgoub BA, Idle JR, Dring LG. Polymorphic hydroxylation of debrisoquine in man. Lancet 1977; i: 584-6.
63. Nebert DW, Gonzalez FJP. 450 genes. structure, evolution and regulation. Annu Rev Biochem 1987; 56: 945-93.
64. Kroemer MK, Mikus G, Eichelbaum M. Clinical relationship of pharmacogenetics. In: Handbook of Experimental Pharmacology. Berlin: Springer-Verlag, 1994: 265-88.
65. Wolf CR, Smith CAD, Forman D. Metabolic polymorphisms in carcinogen metabolising enzymes and cancer susceptibility. In: Genetics of Malignant Disease (Ponder BAJ, ed). Br Med Bull 1994; 50: 718-31.
66. Wei Q, Mutanoski GM, Farmer ER et al. DNA repair related to multiple skin cancers and drug use. Cancer Res 1994; 54: 437-40.
67. 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.
68. Kricker A, Armstrong BK, English DR. Sun exposure and non-melanocytic skin cancer. Cancer Causes Control 1994; 5: 367-92.
69. Lear JT, Hajeer A, Ollier WR et al. Tumour necrosis factor polymorphisms, skin type and risk of multiple basal cell carcinoma. Br J Dermatol 1997; 136: 452 (Abstract).
70. Hutchinson PE, Osborne JE, Lear JT et al. Vitamin D receptor polymorphisms are associated with altered prognosis in patients with malignant melanoma. Clin Cancer Res in press.
71. Sies H, Clairmont A, Ramachandran S et al. Association of NAD(P)H: quinone oxidoreductase NQO1 null with numbers of basal cell carcinomas: use of a multivariate model to rank the relative importance of this polymorphism and those at other relevant loci. Carcinogenesis 1999; 20: 1235-40.