Cytochrome P450 1B1 and catechol-O-methyltransferase polymorphisms and endometrial cancer susceptibility

Carcinogenesis

Volumn 25, Issue 4, 2004, Pages 559-565

  McGrath, Monica ^a   Hankinson, Susan E ^a,b   Arbeitman, Lori ^b   Colditz, Graham A ^a,b   Hunter, David J ^a,b   De Vivo, Immaculata ^a,b  

^a HARVARD SCHOOL OF PUBLIC HEALTH   (United States)

^b BRIGHAM AND WOMEN S HOSPITAL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CATECHOL; CATECHOL METHYLTRANSFERASE; CYTOCHROME P450 1B1; ESTROGEN; HORMONE; ORAL CONTRACEPTIVE AGENT; SERINE; VALINE;

ADULT; ARTICLE; BODY MASS; CANCER INVASION; CANCER RISK; CANCER SUSCEPTIBILITY; CASE CONTROL STUDY; CIGARETTE SMOKING; CONFIDENCE INTERVAL; CONTROLLED STUDY; DNA POLYMORPHISM; ENDOMETRIUM CANCER; ESTROGEN SYNTHESIS; FEMALE; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HETEROZYGOTE; HOMOZYGOTE; HORMONAL THERAPY; HUMAN; LOGISTIC REGRESSION ANALYSIS; MAJOR CLINICAL STUDY; MENOPAUSAL SYNDROME; PRIORITY JOURNAL; PROTEIN FUNCTION; RISK ASSESSMENT; RISK REDUCTION; STATISTICAL SIGNIFICANCE; WILD TYPE;

ADULT; AMINO ACID SUBSTITUTION; ARYL HYDROCARBON HYDROXYLASES; CASE-CONTROL STUDIES; CATECHOL O-METHYLTRANSFERASE; DISEASE SUSCEPTIBILITY; ENDOMETRIAL NEOPLASMS; FEMALE; HUMANS; MIDDLE AGED; MUTATION, MISSENSE; POLYMORPHISM, GENETIC; REFERENCE VALUES;

EID: 4644288411     PISSN: 01433334     EISSN: None     Source Type: Journal    
DOI: 10.1093/carcin/bgh039     Document Type: Article

References (47)

1. Jefcoate,C.R., Liehr,J.G., Santen,R.J. et al. (2000) Tissue-specific synthesis and oxidative metabolism of estrogens. J. Natl Cancer Inst. Monogn., 27, 95-112.
2. Thompson,P.A. and Ambrosone,C. (2000) Molecular epidemiology of genetic polymorphisms in estrogen metabolizing enzymes in human breast cancer. J. Natl Cancer Inst. Monogr., 27, 125-134.
3. Sutter,T.R., Tang,Y.M., Hayes,C.L., Wo,Y.Y., Jabs,E.W., Li,X., Yin,H., Cody,C.W. and Greenlee,W.F. (1994) Complete cDNA sequence of a human dioxin-inducible mRNA identifies a new gene subfamily of cytochrome P450 that maps to chromosome 2. J. Biol. Chem., 269, 13092-13099.
4. Stoilov,I., Akarsu,A.N., Alozie,I., et al. (1998) Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am. J. Hum. Genet., 62, 573-584.
5. Bailey,L.R., Roodi,N., Dupont,W.D. and Parl,F.F. (1998) Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res., 58, 5038-5041.
6. Shimada,T., Watanabe,J., Kawajiri,K., Sutter,T.R., Guengerich,F.P., Gillam,E.M. and Inoue,K. (1999) Catalytic properties of polymorphic human cytochrome P450 1B1 variants. Carcinogenesis, 20, 1607-1613.
7. Li,D.N., Seidel,A., Pritchard,M.P., Wolf,C.R. and Friedberg,T. (2000) Polymorphisms in P450 CYP1B1 affect the conversion of estradiol to the potentially carcinogenic metabolite 4-hydroxyestradiol. Pharmacogenetics, 10, 343-353.
8. Hanna,I.H., Dawling,S., Roodi,N., Guengerich,F.P. and Parl,F.F. (2000) Cytochrome P450 1B1 (CYP1B1) pharmacogenetics: association of polymorphisms with functional differences in estrogen hydroxylation activity. Cancer Res., 60, 3440-3444.
9. Muffay,G.I., Melvin,W.T., Greenlee,W.F. and Burke,M.D. (2001) Regulation, function and tissue-specific expression of cytochrome P450 CYP1B1. Annu. Rev. Pharmacol. Toxicol., 41, 297-316.
10. De Vivo,I., Hankinson,S.E., Li,L., Colditz,G.A. and Hunter,D.J. (2002) Association of CYP1B1 polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 11, 489-492.
11. Watanabe,J., Shimada,T., Gillam,E.M., Ikuta,T., Suemasu,K., Higashi,Y., Gotoh,O. and Kawajiri,K. (2000) Association of CYP1B1 genetic polymorphism with incidence to breast and lung cancer. Pharmacogenetics, 10, 25-33.
12. Zheng,W., Xie,D.W., Jin,F., Cheng,J.R., Dai,Q., Wen,W.Q., Shu,X.O. and Gao,Y.T. (2000) Genetic polymorphism of cytochrome P450-1B1 and risk of breast cancer. Cancer Epidemiol. Biomarkers Prev., 9, 147-150.
13. McLellan,R.A., Oscarson,M., Hidestrand,M., Leidvik,B., Jonsson,E., Otter,C. and Ingelman-Sundberg,M. (2000) Characterization and functional analysis of two common human cytochrome P450 1B1 variants. Arch. Biochem. Biophys., 378, 175-181.
14. Axelrod,J.T.R. (1958) Enzymatic O-methylation of epinephrine and other catechols. J. Biochem., 233, 702-705.
15. Yager,J.D. and Liehr,J.G. (1996) Molecular mechanisms of estrogen carcinogenesis. Annu. Rev. Pharmacol. Toxicol., 36, 203-232.
16. Cavalieri,E.L., Stack,D.E., Devanesan,P.D. et al. (1997) Molecular origin of cancer: catechol estrogen-3,4-quinones as endogenous tumor initiators. Proc. Natl Acad. Sci. USA, 94, 10937-10942.
17. Michnovicz,J.J., Hershcopf,R.J., Naganuma,H., Bradlow,H.L. and Fishman,J. (1986) Increased 2-hydroxylation of estradiol as a possible mechanism for the anti-estrogenic effect of cigarette smoking. N. Engl. J. Med., 315, 1305-1309.
18. Zhu,B.T. and Conney,A.H. (1998) Is 2-methoxyestradiol an endogenous estrogen metabolite that inhibits mammary carcinogenesis? Cancer Res., 58, 2269-2277.
19. Dawling,S., Roodi,N., Mernaugh,R.L., Wang,X. and Parl,F.F. (2001) Catechol-O-methyltransferase (COMT)-mediated metabolism of catechol estrogens: comparison of wild-type and variant COMT isoforms. Cancer Res., 61, 6716-6722.
20. Lachman,H.M., Papolos,D.F., Saito,T., Yu,Y.M., Szumlanski,C.L. and Weinshilboum,R.M. (1996) Human catechol-O-methyltransferase pharmacogenetics: description of a functional polymorphism and its potential application to neuropsychiatric disorders. Pharmacogenetics, 6, 243-250.
21. Boudikova,B., Szumlanski,C., Maidak,B. and Weinshilboum,R. (1990) Human liver catechol-O-methyltransferase pharmacogenetics. Clin. Pharmacol. Ther., 48, 381-389.
22. Lotta,T., Vidgren,J., Tilgmann,C., Ulmanen,J., Melen,K., Julkunen,I. and Taskinen,J. (1995) Kinetics of human soluble and membrane-bound catechol O-methyltransferase: a revised mechanism and description of the thermolabile variant of the enzyme. Biochemistry, 34, 4202-4210.
23. Weinshilboum,R.M. and Raymond,F.A. (1977) Inheritance of low erythrocyte catechol-o-methyltransferase activity in man. Am. J. Hum. Genet., 29, 125-135.
24. Zhu,B.T. and Conney,A.H. (1998) Functional role of estrogen metabolism in target cells: review and perspectives. Carcinogenesis, 19, 1-27.
25. Mannisto,P.T., Ulmanen,I., Lundstrom,K., Taskinen,J., Tenhunen,J., Tilgmann,C. and Kaakkola,S. (1992) Characteristics of catechol O-methyl-transferase (COMT) and properties of selective COMT inhibitors. Prog. Drug Res., 39, 291-350.
26. Liehr,J.G., Ricci,M.J., Jefcoate,C.R., Hannigan,E.V., Hokanson,J.A. and Zhu,B.T. (1995) 4-Hydroxylation of estradiol by human uterine myometrium and myoma microsomes: implications for the mechanism of uterine tumorigenesis. Proc. Natl Acad. Sci. USA, 92, 9220-9224.
27. Hakkola,J., Pasanen,M., Pelkonen,O. et al. (1997) Expression of CYP1B1 in human adult and fetal tissues and differential inducibility of CYP1B1 and CYP1A1 by Ah receptor ligands in human placenta and cultured cells. Carcinogenesis, 18, 391-397.
28. Lavigne,J.A., Helzlsouer,K.J., Huang,H.Y., Strickland,P.T., Bell,D.A., Selmin,O., Watson,M.A., Hoffman,S., Comstock,G.W. and Yager,J.D. (1997) An association between the allele coding for a low activity variant of catechol-O-methyltransferase and the risk for breast cancer. Cancer Res., 57, 5493-5497.
29. Millikan,R.C., Pittman,G.S., Tse,C.K., Duell,E., Newman,B., Savitz,D., Moorman,P.G., Boissy,R.J. and Bell,D.A. (1998) Catechol-O-methyltransferase and breast cancer risk. Carcinogenesis, 19, 1943-1947.
30. Thompson,P.A., Shields,P.G., Freudenheim,J.L. et al. (1998) Genetic polymorphisms in catechol-O-methyltransferase, menopausal status and breast cancer risk. Cancer Res., 58, 2107-2110.
31. Sasaki,M., Tanaka,Y., Kaneuchi,M., Sakuragi,N. and Dahiya,R. (2003) CYP1B1 gene polymorphisms have higher risk for endometrial cancer and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions. Cancer Res., 63, 3913-3918.
32. Aklillu,E., Oscarson,M., Hidestrand,M., Leidvik,B., Otter,C. and Ingelman-Sundberg,M. (2002) Functional analysis of six different polymorphic CYP1B1 enzyme variants found in an Ethiopian population. Mol. Pharmacol., 61, 586-594.
33. Peter Guengerich,F., Chun,Y.J., Kim,D., Gillam,E.M. and Shimada,T. (2003) Cytochrome P450 1B1: a target for inhibition in anticarcinogenesis strategies. Mutat. Res., 523/524, 173-182.
34. Shimada,J., Watanabe,J., Inoue,K., Guengerich,F.P. and Gillam,E.M. (2001) Specificity of 17beta-oestradiol and benzo[a]pyrene oxidation by polymorphic human cytochrome P4501B1 variants substituted at residues 48, 119 and 432. Xenobiotica, 31, 163-176.
35. Bergman-Jungestrom,M. and Wingren,S. (2001) Catechol-O-methyltransferase (COMT) gene polymorphism and breast cancer risk in young women. Br. J. Cancer, 85, 859-862.
36. Dunning,A.M., Healey,C.S., Pharoah,P.D., Teare,M.D., Ponder,B.A. and Easton,D.F. (1999) A systematic review of genetic polymorphisms and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 8, 843-854.
37. Hamajima,N., Matsuo,K., Tajima,K., Mizutani,M., Iwata,H., Iwase,T., Miura,S., Oya,H. and Obata,Y. (2001) Limited association between a catechol-O-methyltransferase (COMT) polymorphism and breast cancer risk in Japan. Int. J. Clin. Oncol., 6, 13-18.
38. Huang,C.S., Chern,H.D., Chang,K.J., Cheng,C.W., Hsu,S.M. and Shen,C.Y. (1999) Breast cancer risk associated with genotype polymorphism of the estrogen-metabolizing genes CYP17, CYP1A1 and COMT: a multigenic study on cancer susceptibility. Cancer Res., 59, 4870-4875.
39. Mitrunen,K., Jourenkova,N., Kataja,V., Eskelinen,M., Kosma,V.M., Benhamou,S., Kang,D., Vainio,H., Uusitupa,M. and Hirvonen,A. (2001) Polymorphic catechol-O-methyltransferase gene and breast cancer risk. Cancer Epidemiol. Biomarkers Prev., 10, 635-640.
40. Yim,D.S., Parkb,S.K., Yoo,K.Y. et al. (2001) Relationship between the Val158Met polymorphism of catechol O-methyl transferase and breast cancer. Pharmacogenetics, 11, 279-286.
41. Wieser,F., Wenzl,R., Tempfer,C., Worda,C., Huber,J. and Schneeberger,C. (2002) Catechol-O-methyltransferase polymorphism and endometriosis. J. Assist. Reprod. Genet., 19, 343-348.
42. Garner,E.I., Stokes,E.E., Berkowitz,R.S., Mok,S.C. and Cramer,D.W. (2002) Polymorphisms of the estrogen-metabolizing genes CYP17 and catechol-O-methyltransferase and risk of epithelial ovarian cancer. Cancer Res., 62, 3058-3062.
43. DeMille,M.M., Kidd,J.R., Ruggeri,V. et al. (2002) Population variation in linkage disequilibrium across the COMT gene considering promoter region and coding region variation. Hum. Genet., 111, 521-537.
44. Zhu,B.T. (2002) Catechol-O-Methyltransferase (COMT)-mediated methylation metabolism of endogenous bioactive catechols and modulation by endobiotics and xenobiotics: importance in pathophysiology and pathogenesis. Curr. Drug Metab., 3, 321-349.
45. Roy,D., Weisz,J. and Liehr,J.G. (1990) The O-methylation of 4-hydroxyestradiol is inhibited by 2-hydroxyestradiol: implications for estrogen-induced carcinogenesis. Carcinogenesis, 11, 459-462.
46. Hankinson,S.E., Willett,W.C., Manson,J.E., Hunter,D.J., Colditz,G.A., Stampfer,M.J., Longcope,C. and Speizer,F.E. (1995) Alcohol, height and adiposity in relation to estrogen and prolactin levels in postmenopausal women. J. Natl Cancer Inst., 87, 1297-1302.
47. Kelsey,J.L., LiVolsi,V.A., Holford,T.R., Fischer,D.B., Mostow,E.D., Schwartz,P.E., O'Connor,T. and White,C. (1982) A case-control study of cancer of the endometrium. Am. J. Epidemiol., 116, 333-342.