Polymorphisms in drug-metabolizing enzymes as modifiers of cancer risk

Clinical Chemistry

Volumn 41, Issue 12 SUPPL., 1995, Pages 1864-1869

  Spurr, Nigel K ^a   Gough, Alan C ^b   Chinegwundoh, Francis I ^c   Dale Smith, C A ^d  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b SOUTHAMPTON GENERAL HOSPITAL   (United Kingdom)

^c ROYAL SHREWSBURY HOSPITAL   (United Kingdom)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

Author keywords

CYP2D6 activity; genes, low penetrance; malignancy susceptibility; NAT2 genes

Indexed keywords

ACYLTRANSFERASE; CYTOCHROME P450; GENE PRODUCT; OXYGENASE;

BLADDER CANCER; CANCER RISK; COLON CANCER; CONFERENCE PAPER; CONTROLLED STUDY; DETOXIFICATION; DNA POLYMORPHISM; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; PHENOTYPE; POINT MUTATION; POLYMERASE CHAIN REACTION;

EID: 0028866324     PISSN: 00099147     EISSN: None     Source Type: Journal    
DOI: 10.1093/clinchem/41.12.1864     Document Type: Conference Paper

References (28)

1. Futreal PA, Cochran C, Marks JR, Iglehart JD, Zimmerman W, Barrett JC, Wiseman RW. Mutation analysis of the THRA1 gene in breast cancer: deletion/fusion of the gene to a novel sequence on 17q in the BT474 cell line. Cancer Res 1994;54: 1791-4.
2. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nature Genet 1995;9:439-43.
3. Hosking L, Trowsdale J, Nicolai H, Solomon E, Foulkes W, Stamp G, et al. A somatic BRCA1 mutation in an ovarian tumour [Letter]. Nature Genet 1995;9:343-4.
4. Groden J, Thliveris A, Samowitz W, Carlson M, Gelbert L, Albertsen H, et al. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 1991;66: 589-600.
5. Fishel R, Lescoe MK, Rao MR, Copeland NG, Jenkins NA, Garber J, et al. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 1993; 75:1027-38.
6. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, et al. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary non-polyposis colon cancer. Nature 1994;17:258-61.
7. Nicolaides NC, Papadopoulos N, Liu B, Wei YF, Carter KC, Ruben SM, et al. Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 1994;371:75-80.
8. Eisen HJ, Hannah RR, Legraverend C, Okey AB, Nebert DW. The ah receptor: controlling factor in the induction of drug-metabolizing enzymes by certain chemical carcinogens and other environmental pollutants, In: Litwack G, ed. Biochemical actions of hormones. New York: Academic Press, 1983:227-43.
9. Zhong S, Wyllie AH, Barnes D, Wolf CR, Spurr NK. Relationship between the GSTM1 genetic polymorphism and susceptibility to bladder, breast and colon cancer. Carcinogenesis 1993;14: 1821-4.
10. Heagerty AH, Fitzgerald D, Smith A, Bowers B, Jones P, Fryer AA, et al. Glutathione S-transferase GSTM1 phenotypes and protection against cutaneous tumours. Lancet 1994;343: 266-8.
11. Warwick A, Sarhanis P, Redman C, Pemble S, Taylor JB, Ketterer B, et al. Theta-class glutathione-S-transferase gstt1 genotypes and susceptibility to cervical neoplasia: interactions with GSTM1, CYP2D6 and smoking. Carcinogenesis 1994;14: 2841-5.
12. Spurr NK, Gough AC, Dale Smith CA, Wolf CR. Genetic analysis of cytochrome P450 system. Methods Enzymol 1991;206: 149-66.
13. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
14. Blum M, Demierre A, Grant DM, Heim M, Meyer UA. Molecular mechanism of slow acetylation of drugs and carcinogens in humans. Proc Natl Acad Sci U S A 1991;88:5237-41.
15. Gough AC, Miles JS, Spurr NK, Moss JE, Gaedigk A, Eichelbaum M, Wolf CR. Identification of the primary gene defect at the cytochrome P450 CYP2D locus. Nature 1990;347:773-6.
16. Kagimoto M, Heim M, Kagimoto K, Zeugin T, Meyer UA. Multiple mutations of the human cytochrome P450IID6 gene (CYP2D6) in poor metabolizers of debrisoquine. Study of the functional significance of individual mutations by expression of chimeric genes. J Biol Chem 1990;265:17209-14.
17. Gaedigk A, Blum M, Gaedigk R, Eichelbaum M, Meyer UA. Deletion of the entire cytochrome P450 CYP2D6 gene as a cause of impaired drug metabolism in poor metabolizers of the debrisoquine/sparteine polymorphism. Am J Hum Genet 1991;48: 943-50.
18. Hanioka N, Kimura S, Meyer UA, Gonzalez FJ. The human CYP2D locus associated with a common genetic defect in drug oxidation: a G1934 - A base change in intron 3 of a mutant CYP2D6 allele results in an aberrant 3′ splice recognition site. Am J Hum Genet 1990;47:994-1001.
19. Rodriguez JW, Kirlin WG, Ferguson RJ, Doll MA, Gray K, Rustan TD, et al. Human acetylator genotype: relationship to colorectal cancer incidence and arylamine N-acetyltransferase expression in colon cytosol. Arch Toxicol 1993;67:445-52.
20. Agundez JA, Ladero JM, Olivera M, Abildua R, Roman JM, Benitez J. Genetic analysis of the arylamine N-acetyltransferase polymorphism in breast cancer patients. Oncology 1995;52:7-11.
21. Risch A, Wallace DMA, Bathers S, Sim E. Slow N-acetylation genotype is a susceptibility factor in occupational and smoking related bladder cancer. Hum Mol Genet 1995;4:231-6.
22. Cartwright RA, Glashan RW, Rogers HJ, Ahmad RA, Barham Hall D, Higgins E, et al. Role of N-acetyltransferase phenotypes in bladder carcinogenesis: a pharmacogenetic epidemiological approach to bladder cancer. Lancet 1982;ii:842-6.
23. Mostofi FR. Histological typing of urinary bladder tumours. In: International histological classification of tumours, No. 10. Geneva: WHO, 1973.
24. Wolf CR, Smith CA, Gough AC, Moss JE, Vallis KA, Howard G, et al. Relationship between the debrisoquine hydroxylase polymorphism and cancer susceptibility. Carcinogenesis 1992; 13: 1035-8.
25. Tefre T, Daly AK, Armstrong M, Leathart JB, Idle JR, Brogger A, et al. Genotyping of the CYP2D6 gene in Norwegian lung patients and controls. Pharmacogenetics 1994;4:47-57.
26. Hirvonen A, Husgafvel-Pursiainen K, Anttila S, Karjalainen A, Vainio H. Polymorphism in CYP1A1, CYP2D6 genes. Possible association with susceptibility to lung cancer. Environ Health Perspect 1993;101:109-12.
27. Hirvonen A, Husgafvel-Pursiainen K, Anttila S, Karjalainen A, Pelkonen O, Vainio H. PCR-based CYP2D6 genotyping for Finnish lung cancer patients. Pharmacogenetics 1993;3:19-27.
28. Agundez JAG, Ledesma MC, Benitez J, Ladero JM, Rodriguez-Lescure A, Diaz-Rubio E, Diaz-Rubio M. Short report: CYP2D6 genes and risk of liver cancer. Lancet 1995;345:830-1.