A49T, V89L and TA repeat polymorphisms of steroid 5α-reductase type II and breast cancer risk in Japanese women

Breast Cancer Research

Volumn 4, Issue 4, 2002, Pages

  Yang, Chunxia ^a,b   Hamajima, Nobuyuki ^a   Iwata, Hiroji ^a   Saito, Toshiko ^a   Matsuo, Keitaro ^a   Hirose, Kaoru ^a   Inoue, Manami ^a   Takezaki, Toshiro ^a   Tajima, Kazuo ^a  

^a AICHI CANCER CENTER HOSPITAL   (Japan)

^b SICHUAN UNIVERSITY   (China)

Author keywords

Breast cancer risk; Japanese women; SRD5A2 gene polymorphisms

Indexed keywords

STEROID 5ALPHA REDUCTASE 2; ANDROGEN; CHOLESTENONE 5ALPHA REDUCTASE; CODON; ESTROGEN; OXIDOREDUCTASE;

ADULT; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; BLOOD SAMPLING; BREAST CANCER; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; FEMALE; GENE; GENE INTERACTION; GENE LINKAGE DISEQUILIBRIUM; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENETIC RISK; GENOTYPE; HUMAN; JAPANESE (PEOPLE); MAJOR CLINICAL STUDY; POLYMERASE CHAIN REACTION; SRD5A2 GENE; BODY MASS; BREAST NEOPLASMS; CODON; DRINKING BEHAVIOR; GENETIC PREDISPOSITION; GENETICS; HAPLOTYPE; JAPAN; MENOPAUSE; MIDDLE AGED; MISSENSE MUTATION; NEOPLASMS, HORMONE-DEPENDENT; ONSET AGE; PHYSIOLOGY; POINT MUTATION; REPRODUCTIVE HISTORY; RISK; RISK FACTOR; SMOKING; VARIABLE NUMBER OF TANDEM REPEAT;

ADULT; AGE OF ONSET; ALCOHOL DRINKING; ALLELES; AMINO ACID SUBSTITUTION; ANDROGENS; BODY MASS INDEX; BREAST NEOPLASMS; CHOLESTENONE 5 ALPHA-REDUCTASE; CODON; ESTROGENS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HUMANS; JAPAN; MENOPAUSE; MIDDLE AGED; MINISATELLITE REPEATS; MUTATION, MISSENSE; NEOPLASMS, HORMONE-DEPENDENT; OXIDOREDUCTASES; POINT MUTATION; REPRODUCTIVE HISTORY; RISK; RISK FACTORS; SMOKING;

EID: 34247597709     PISSN: 14655411     EISSN: 1465542X     Source Type: Journal    
DOI: 10.1186/bcr445     Document Type: Article

References (30)

1. Henderson BE, Feigelson HS: Hormonal carcinogenesis. Carcinogenesis. 2000, 21: 427-433. 10.1093/carcin/21.3.427.
2. Stoll BA, Secreto G: New hormone-related markers of high risk to breast cancer. Ann Oncol. 1992, 3: 435-438.
3. Budai B, Szamel I, Sulyok Z, Nemet M, Bak M, Otto S, Reed MJ, Purohit A, Parish DC, Kralovanszky J: Characteristics of cystic breast disease with special regard to breast cancer development. Anticancer Res. 2001, 21: 749-752.
4. Dorgan JF, Longcope C, Stephenson HE, Falk RT, Miller R, Franz C, Kahle L, Campbell WS, Tangrea JA, Schatzkin A: Relation of prediagnostic serum estrogen and androgen levels to breast cancer risk. Cancer Epidemiol Biomarkers Prev. 1996, 5: 533-539.
5. Berrino F, Muti P, Micheli A, Bolelli G, Krogh V, Sciajno R, Pisani P, Panico S, Secreto G: Serum sex hormone levels after menopause and subsequent breast cancer. J Natl Cancer Inst. 1996, 88: 291-296.
6. Cauley JA, Lucas FL, Kuller LH, Stone K, Browner W, Cummings SR: Elevated serum estradiol and testosterone concentrations are associated with a high risk for breast cancer. Ann Intern Med. 1999, 130: 270-277.
7. Lapointe J, Labrie C: Role of the cyclin-dependent kinase inhibitor p27(Kip1) in androgen-induced inhibition of CAMA-1 breast cancer cell proliferation. Endocrinology. 2001, 142: 4331-4338.
8. Dauvois S, Geng CS, Levesque C, Merand Y, Labrie F: Additive inhibitory effects of an androgen and the antiestrogen EM-170 on estradiol-stimulated growth of human ZR-75-1 breast tumors in athymic mice. Cancer Res. 1991, 51: 3131-3135.
9. Labrie F, Simard J, de Launoit Y, Poulin R, Theriault C, Dumont M, Dauvois S, Martel C, Li SM: Androgens and breast cancer. Cancer Detect Prev. 1992, 16: 31-38.
10. Ingle JN, Twito DI, Schaid DJ, Cullinan SA, Krook JE, Mailliard JA, Tschetter LK, Long HJ, Gerstner JG, Windschitl HE: Combination hormonal therapy with tamoxifen plus fluoxymesterone versus tamoxifen alone in postmenopausal women with metastatic breast cancer. An updated analysis. Cancer. 1991, 67: 886-891.
11. Suzuki T, Darnel AD, Akahira JI, Ariga N, Ogawa S, Kaneko C, Takeyama J, Moriya T, Sasano H: 5alpha-reductases in human breast carcinoma: possible modulator of in situ androgenic actions. J Clin Endocrinol Metab. 2001, 86: 2250-2257.
12. Labrie F, Sugimoto Y, Luu-The V, Simard J, Lachance Y, Bach-varov D, Leblanc G, Durocher F, Paquet N: Structure of human type II 5 alpha-reductase gene. Endocrinology. 1992, 131: 1571-1573.
13. Vichis F, Mendez JP, Canto P, Lieberman E, Chavez B: Identification of missense mutations in the SRD5A2 gene from patients with steroid 5α-reductase 2 deficiency. Clin Endocrinol. 2000, 52: 383-387. 10.1046/j.1365-2265.2000.00941.x.
14. Makridakis N, Ross RK, Pike MC, Chang L, Stanczyk FZ, Kolonel LN: A prevalent missense substitution that modulates activity of prostatic steroid 5α-reductase. Cancer Res. 1997, 57: 1020-1022.
15. Allen NE, Forrest MS, Key TJ: The association between polymorphisms in the CYP17 and 5alpha-reductase (SRD5A2) genes and serum androgen concentrations in men. Cancer Epidemiol Biomarkers Prev. 2001, 10: 185-189.
16. Reichardt JK, Makridakis N, Henderson BE, Yu MC, Pike MC, Ross RK: Genetic variability of the human SRD5A2 gene: implication for prostate cancer risk. Cancer Res. 1995, 55: 3973-3975.
17. Hsing AW, Chen C, Chokkalingam AP, Gao YT, Dightman DA, Nguyen HT, Deng J, Cheng J, Sesterhenn IA, Mostofi FK, Stanczyk FZ, Reichardt JK: Polymorphic markers in the SRD5A2 gene and prostate cancer risk: a population-based case-control study. Cancer Epidemiol Biomarkers Prev. 2001, 10: 1077-1082.
18. Makridakis NM, Ross RK, Pike MC, Crocitto LE, Kolone LN, Pearce CL, Henderson BE, Reichardt JK: Association of mis-sense substitution in SRD5A2 gene with prostate cancer in African-American and Hispanic men in Los Angeles, USA. Lancet. 1999, 354: 975-978. 10.1016/S0140-6736(98)11282-5.
19. Bharaj B, Scorilas A, Giai M, Diamandis EP: TA repeat polymorphism of the 5α-reductase gene and breast cancer. Cancer Epidemiol Biomarkers Prev. 2000, 9: 387-393.
20. Kantoff PW, Febbo PG, Giovannucci E, Krithivas K, Dahl DM, Chang G, Hennekens CH, Brown M, Stamper MJ: A polymorphism of the 5 alpha reductase gene and its association with prostate cancer: a case-control analysis. Cancer Epidemiol Biomarkers Prev. 1997, 6: 189-192.
21. Febbo PG, Kantoff PW, Platz EA, Casey D, Batter S, Giovannucci E, Hennekens CH, Stampfer MJ: The V89L polymorphism in the 5alpha-reductase type 2 gene and risk of prostate cancer. Cancer Res. 1999, 59: 5878-5881.
22. Margiotti K, Sangiuolo F, De Luca A, Froio F, Pearce CL, Ricci-Barbini V, Micali F, Bonafe M, Franceschi C, Dallapiccola B, Novelli G, Reichardt JK: Evidence for an association between the SRD5A2 (type II steroid 5 alpha-reductase) locus and prostate cancer in Italian patients. Dis Markers. 2000, 16: 147-150.
23. Latil AG, Azzouzi R, Cancel GS, Guillaume EC, Cochan-Priollet B, Berthon PL, Cussenot O: Prostate carcinoma risk and allelic variants of genes involved in androgen biosynthesis and metabolism pathways. Cancer. 2001, 92: 1130-1137. 10.1002/1097-0142(20010901)92:5<1130::AID-CNCR1430>3.0.CO;2-B.
24. Yamada Y, Watanabe M, Murata M, Yamanaka M, Kubota Y, Ito H, Katoh T, Kawamura J, Yatani R, Shiraishi T: Impact of genetic polymorphisms of 17-hydroxylase cytochrome P-450 (CYP17) and steroid 5α-reductase type II (SRD5A2) genes on prostate-cancer risk among the Japanese population. Int J Cancer. 2001, 92: 683-686. 10.1002/1097-0215(20010601)92:5<683::AID-IJC1255>3.0.CO;2-4.
25. Nam RK, Toi A, Vesprini D, Ho M, Chu W, Harvie S, Sweet J, Trachtenberg J, Jewett MA, Narod SA: V89L polymorphism of type-2, 5-alpha reductase enzyme gene predicts prostate cancer presence and progression. Urology. 2001, 57: 199-204. 10.1016/S0090-4295(00)00928-6.
26. Mononen N, Ikonen T, Syrjakoski K, Matikainen M, Schleutker J, Tammela TLJ, Koivisto PA, Kallioniemi OP: A missense substitution A49T in the steroid 5-alpha-reductase gene (SRD5A21) is not associated with prostate cancer in Finland. Br J Cancer. 2001, 84: 1344-1347. 10.1054/bjoc.2001.1789.
27. Scorilas A, Bharaj B, Gial M, Diamandis EP: Codon 89 polymorphisms in the human 5α-reductase gene in primary breast cancer. Br J Cancer. 2001, 84: 760-767. 10.1054/bjoc.2000.1681.
28. Huang XE, Hamajima N, Saito T, Matsuo K, Mizutani M, Iwata H, Iwase T, Miura S, Mizuno T, Tokudome S, Tajima K: Possible association of β2- and β3-adrenergic receptor gene polymorphisms with susceptibility to breast cancer. Breast Cancer Res. 2001, 3: 264-269. 10.1186/bcr304.
29. Hamajima N, Saito T, Matsuo K, Kozaki KI, Takahashi T, Tajima K: Polymerase chain reaction with confronting two-pair primers for polymorphism genotyping. Jpn J Cancer Res. 2000, 91: 865-868.
30. Zeleniuch-Jacquotte A, Bruning PF, Bonfrer JM, Koenig KL, Shore RE, Kim MY, Pasternack BS, Toniolo P: Relation of serum levels of testosterone and dehydroepiandrosterone sulfate to risk of breast cancer in postmenopausal women. Am J Epidemiol. 1997, 145: 1030-1038.