A systematic review of genetic polymorphisms and breast cancer risk

Cancer Epidemiology Biomarkers and Prevention

Volumn 8, Issue 10, 1999, Pages 843-854

  Dunning, Alison M ^a   Healey, Catherine S ^a   Pharoah, Paul D P ^a,b   Teare, M Dawn ^a   Ponder, Bruce A J ^a   Easton, Douglas F ^a  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARCINOGEN; POLYCYCLIC AROMATIC HYDROCARBON; TOBACCO SMOKE;

ADULT; AGED; BREAST CANCER; BREAST CARCINOGENESIS; CANCER EPIDEMIOLOGY; CANCER RISK; CANCER SUSCEPTIBILITY; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; FEMALE; GENE DELETION; GENETIC POLYMORPHISM; HORMONE METABOLISM; HUMAN; MAJOR CLINICAL STUDY; META ANALYSIS; PRIORITY JOURNAL; REVIEW; RISK ASSESSMENT;

ALLELES; BREAST NEOPLASMS; CASE-CONTROL STUDIES; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; POLYMORPHISM, GENETIC; RISK;

EID: 0032749945     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (67)

1. Pharoah, P. D. P., and Mackay, J. Absolute risk of breast cancer in women at increased risk: a more useful clinical measure than relative risk? Breast, 7: 255-259, 1998.
2. National Cancer Institute. SEER Cancer Statistics Review, 1973-1995. Belhesda, MD: National Cancer Institute, 1999.
3. Newman, B., Austin, M. A., and Lee, M. Inheritance of human breast cancer: evidence for autosomal dominant transmission in high risk families. Proc. Natl. Acad. Sci. USA, 85: 3044-3048, 1988.
4. Pharoah, P. D. P., Day, N. E., Duffy, S., Easton, D. F., and Ponder, B. A. J. Family history and the risk of breast cancer: a systematic review and meta-analysis. Int. J. Cancer, 71: 800-809, 1997.
5. Peto, J., Easton, D. F., Matthews, F. E., Ford, D., and Swerdlow, A. J. Cancer mortality in relatives of women with breast cancer: the OPCS study. Int. J. Career, 65: 273-283, 1996.
6. Khoury, M. J. Genetic epidemiology. In: K. Rothman and S. Greenland (eds.), Modern Epidemiology, pp. 609-622. New York: Lippincott-Raven, 1997.
7. Risch, N., and Merikangas, K. The future of genetic studies of complex diseases. Science (Washington DC) 273: 1516-1517, 1996.
8. Krontiris, T. G., Devlin, B., Karp, D. D., Robert, N. J., and Risch, N. An association between the risk of cancer and mutations in the HRAS1 minisatellite locus. N. Engl. J. Med., 329: 517-523, 1993.
9. Weston, A., and Godbold, J. H. Polymorphisms of H-ras-1 and p53 in breast cancer and lung cancer: a meta-analysis. Environ. Health Perspect., 105 (Suppl 4): 919-926, 1997.
10. Kelsey, J. L., Gammon, M. D., and John, E. M. Reproductive factors and breast cancer. Epidemiol. Rev., 15: 36-47, 1993.
11. Hunter, D. J., and Willett, W. C. Nutrition and breast cancer. Cancer Causes & Control, 7: 56-68, 1996.
12. Rebbeck, T. R. Molecular epidemiology of the human glutathione S-transferase genotypes GSTM1 and GSTT1 in cancer susceptibility. Cancer. Epidemiol., Biomarkers & Prev., 6: 733-743, 1997.
13. Hein, D. W., Doll, M. A., Rustan, T. D., Gray, K., Feng, Y., Ferguson, R. J., and Grant, D. M. Metabolic activation and deactivation of arylamine carcinogens by recombinant human NAT1 and polymorphic NAT2 acetyltransferases. Carcinogenesis (Lond.), 14: 1633-1638, 1993.
14. Badawi, A. F., Hirvonen, A., Bell, D. A., Lang, N. P., and Kadlubar, F. F. Role of aromatic amine acetyltransferases, NAT1 and NAT2, in carcinogen-DNA adduct formation in the human urinary bladder. Cancer Res., 55: 5230-5237, 1995.
15. Shattuck-Eidens, D., McClure, M., Simard, J., Labrie, F., Narod, S., Couch, F., Hoskins, K., Weber, B., Castilla, L., and Erdos, M. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening. JAMA. 273: 535-541, 1995.
16. Børresen, A. L., Andersen, T. I., Garber, J., Barbier-Piraux, N., Thorlacius, S., Eyfjörd, J., Ottestad, L., Smith-Sørensen, B., Hovig, E., Malkin, D., and Freind, S. H. Screening for germ line TP53 mutations in breast cancer patients. Cancer Res., 52: 3234-3236, 1992.
17. Friend, S., Børresen, A. L., Brody, L., Casey, G., Devilee, P., Gayther, S., Goldgar, D., Murphy, P., Weber, B. L., and Wiseman, R. Breast cancer information on the web. Nat. Genet., 11: 238-239, 1995.
18. Lathrop, G. Estimating genotype relative risks. Tissue Antigens, 22: 160-166, 1983.
19. Agundez, J. A. G., Ladero, J. M., Olivera, M., Roman, J. M., and Benitez. J. Genetic analysis of the arylamine N-acetyl transferase polymorphism in breasl cancer patients. Oncology, 52: 7-11, 1995.
20. Ambrosone, C. B., Freudenheim, J. L., Graham, S., Marshall, J. R., Vena, J. E., Brasure, J. R., Laughlin, R., Nemoto, T., Michalek, A. M., Harrington, A., Ford, T. D., and Shields, P. G. Cytochrome P4501A1 and glutathione S-transferase (M1) polymorphisms and postmenopausal breast cancer risk. Cancer Res., 55: 3483-3485, 1995.
21. Ambrosone, C. B., Freudenheim, J. L., Graham, S., Marshall, J. R., Vena, J. E., Brasure, J. R., Michalek, A. M., Laughlin, R., Nemoto, T., Gillenwater, K. A., and Shields, P. G. Cigarette smoking, N-acetyltransferase 2 genetic polymorphisms, and breast cancer risk. JAMA, 276: 1494-1501, 1996.
22. Andersen, T. I., Heimdal, K. R., Skrede, M., Tveit, K., Berg, K., and Børresen, A. L. Oestrogen receptor (ESR) polymorphisms and breast cancer susceptibility. Hum. Genet., 94: 665-670, 1994.
23. Bailey, L. R., Roodi, N., Verrier, C. S., Yee, C. J., Dupont, W. D., and Parl, F. F. Breast cancer and CYPIA1, GSTM1, and GSTT1 polymorphisms: evidence of a lack of association in Caucasians and African Americans. Cancer Res., 58: 65-70, 1998.
24. Buchert, E. T., Woosley, R. L., Swain, S. M., Oliver, S. J., Coughlin, S. S., Pickle, L., Trock, B., and Riegel, A. T. Relationship of CYP2D6 (debrisoquine hydroxylase) genotype to breast cancer susceptibility. Pharmacogenetics, 3: 322-327, 1993.
25. Campbell, I. G., Eccles, D. M., Dunn, B., Davis, M., and Leake, V. p53 polymorphism in ovarian and breast cancer. Lancet, 347: 393-394, 1996.
26. Charrier, J., Maugard, C. M., Le Mevel, B., and Bignon, Y. J. Allelotype influence at glutathione S-transferase M1 locus on breast cancer susceptibility. Br. J. Cancer, 79: 346-353, 1999.
27. Chouchane, L., Ahmed, S. B., Baccouche, S., and Remadi, S. Polymorphism in the tumor necrosis factor-α promoter region and in the heat shock protein 70 genes associated with malignant tumors. Cancer (Phila.), 80: 1489-1496, 1997.
28. Dunning, A. M., Chiano, M., Smith, N. R., Dearden, J., Gore, M., Oakes, S., Wilson, C., Stratton, M., Peto, J., Easton, D., Clayton, D., and Ponder, B. A. Common BRCA1 variants and susceptibility to breast and ovarian cancer in the general population. Hum. Mol. Genet., 6: 285-289, 1997.
29. Dunning, A. M., Healey, C. S., Pharoah, P. D. P., Foster, N., Easton, D. F., Day, N. E., and Ponder, B. A. J. Polymorphism in the steroid metabolism gene CYP17 and risk of breast cancer. Br. J. Cancer, 77: 2045-2047, 1998.
30. Feigelson, H. S., Coetzee, G. A., Kolonel, L. N., Ross, R. K., and Henderson, B. E. A polymorphism in the CYP17 gene increases the risk of breast cancer. Cancer Res., 57: 1063-1065, 1997.
31. Garrett, E., Rowe, S. M., Coughlan, S. J., Horan, R., McLinden, J., Carney, D. N., Fanning, M., Kieback, D. G., and Headon, D. R. Mendelian inheritance of a TaqI restriction fragment length polymorphism due to an insertion in the human progesterone receptor gene and its allelic imbalance in breast cancer. Cancer Res. Ther. Control, 4: 217-222, 1995.
32. Haiman, C. A., Hankinson, S. E., Speizer, F. E., and Hunter, D. J. A tetranucleotide repeal polymorphism in CYPI9 and breast cancer risk. Proc. Am. Assoc. Cancer Res., 40: 194, 1999.
33. Harries, L. W., Stubbins, M. J., Forman, D., Howard, G. C. W., and Wolf, C. R. Identification of genetic polymorphisms at the glutathione S-transferase Pi locus and association with susceptibility to bladder, testicular and prostate cancer. Carcinogenesis (Lond.), 18: 641-644, 1997.
34. Helzlsouer, K. J., Selmin, O., Huang, H-Y., Strickland, P. T., Hoffman, S., Alberg, A. J., Watson, M., Comstock, G. W., and Bell, D. Association between glutathione S-transferase M1, P1, and T1 genetic polymorphisms and development of breast cancer. J. Natl. Cancer Inst., 90: 512-518, 1998.
35. Helzlsouer, K. J., Huang, H-Y., Strickland, P. T., Hoffman, S., Alberg, A. J., Comstock, G. W., and Bell, D. A. Association between CYP17 polymorphism and the development of breast cancer. Cancer Epidemiol., Biomarkers & Prev., 7: 945-949, 1998.
36. Huober, J., Bertram, B., Petru, E., Kaufmann, M., and Schmahl, D. Metabolism of debrisoquine and susceptibility to breast cancer. Breast Cancer Res. Treat., 18: 43-48, 1991.
37. Kristensen, V. N., Andersen, T. I., Lindblom, A., Erikstein. B., Magnus, P., and Borresen-Dale, A. L. A rare CYP19 (aromatase) variant may increase the risk of breast cancer. Pharmacogenetics, 8: 43-48, 1998.
38. Lancaster, J. M., Berchuck, A., Carney, M. E., Wiseman, R., and Taylor, J. A. Re: "Progesterone receptor gene polymorphism and risk for breast and ovarian cancer." Br. J. Cancer, 78: 277, 1998.
39. 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. 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. 1997.
40. Hunter, D. J., Hankinson, S. E., Hough, H., Gertig, D. M., Garcia Closas, M., Spiegelman, D., Manson, J. E., Colditz, G. A., Willett, W. C., Speizer, F. E., and Kelsey, K. A prospective study of NAT2 acetylation genotype, cigarette smoking, and risk of breast cancer. Carcinogenesis (Lond.), 18: 2127-2132, 1997.
41. Ishibe, N., Hankinson, S. E., Colditz, G. A., Spiegelman, D., Willett, W. C., Speizer, F. E., Kelsey, K. T., and Hunter, D. J. Cigarette smoking, cytochrome P450 1A1 polymorphisms, and breast cancer risk in the Nurses' Health Study, Cancer Res., 58: 667-671, 1998.
42. Iwase, H., Greenman, J. M., Barnes, D. M., Hodgson, S., Bobrow, L., and Mathew, C. G. Sequence variants of the estrogen receptor (ER) gene found in breast cancer patients with ER negative and progesterone receptor positive tumors. Cancer Lett., 108: 179-184, 1996.
43. Kawajiri, K., Nakachi, K., Imai, K., Watanabe, J., and Hayashi, S. Germ line polymorphisms of p53 and CYP1A1 genes involved in human lung cancer. Carcinogenesis (Lond.), 14: 1085-1089, 1993.
44. Kelsey, K. T., Hankinson, S. E., Colditz, G. A., Springer, K., Garcia-Closas, M., Spiegelman, D., Manson, J. E., Garland, M., Stampfer, M. J., Willett, W. C., Speizer, F. E., and Hunter, D. J. Glutathione S-transferase class μ deletion polymorphism and breast cancer: results from prevalent versus incident cases. Cancer Epidemiol., Biomarkers & Prev., 6: 511-515, 1997.
45. Ladero, J. M., Benitez, J., Jara, C., Llerena, A., Valdivielso, M. J., Munoz, J. J., and Vargas, E. Polymorphic oxidation of debrisoquine in women with breast cancer. Oncology, 48: 107-110, 1991.
46. Ladona, M. G., Abildua, R. E., Ladero, J. M., Roman, J. M., Plaza. M. A., Agundez, J. A., Munoz, J. J., and Benitez, J. CYP2D6 genotypes in Spanish women with breast cancer. Cancer Lett., 99: 23-28, 1996.
47. Mannermaa, A., Peltoketo, H., Winqvist, R., Ponder, B. A. J., Kiviniemi, H., Easton, D. F., Poutanen, M., Isomaa, V., and Vihko, R. Human familial and sporadic breast cancer: analysis of the coding regions of the 17β-hydroxysteroid dehydrogenase 2 gene (EDH17B2) using a single-strand conformation polymorphism assay. Hum. Genet., 93: 319-324, 1994.
48. Manolitsas, T. P., Englefield, P., Eccles, D. M., and Campbell, I. G. Re: "No association of a 306-bp insertion polymorphism in the progesterone receptor gene with ovarian and breast cancer." Br. J. Cancer, 75: 1398-1399, 1997.
49. Mavridou, D., Gornall, R., Campbell, I. G., and Eccles, D. M. TP 53 intron 6 polymorphism and the risk of ovarian and breast cancer. Br. J. Cancer. 77: 676-677, 1998.
50. Millikan, R. C., Pittman, G. S., Newman, B., Tse, C. K., Selmin, O., Rockhill, B., Savitz, D., Moorman, P. G., and Bell, D. A. Cigarette smoking. N-acetyl-transferases 1 and 2, and breast cancer risk. Cancer Epidemiol., Biomarkers & Prev., 7: 371-378, 1998.
51. 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. Catechol-O-methyltransferase and breast cancer risk. Carcinogenesis (Lond.), 19: 1943-1947, 1998.
52. Peller, S., Kopilova, Y., Slutzki, S., Halevy, A., Kvitko, K., and Rotter, V. A novel polymorphism in intron 6 of the human p53 gene: a possible association with cancer predisposition and susceptibility. DNA Cell Biol., 14: 983-990, 1995.
53. Pontin, J. E., Hamed, H., Fentiman, I. S., and Idle, J. R. Cytochrome p450dbl phenotypes in malignant and benign breast disease. Eur. J. Cancer, 26: 790-792. 1998.
54. Shields, P. G., Ambrosone, C. B., Graham, S., Bowman, E. D., Harrington, A. M., Gillenwater, K. A., Marshall, J. R., Vena, J. E., Laughlin, R., Nemoto, T., and Freudenheim, J. L. A cytochrome P4502E1 genetic polymorphism and tobacco smoking in breast cancer. Mol. Carcinog., 17: 144-150, 1996.
55. Siegelmann-Danieli, N., and Buetow, K. H. Constitutional genetic variation at the human aromatase gene (Cyv19) and breast cancer risk. Br. J. Cancer, 79: 456-463, 1999.
56. Sjalander, A., Birgander, R., Hallmans, G., Cajander, S., Lenner, P., Athlin, L., Beckman, G., and Beckman, L. p51 polymorphisms and haplotypes in breast cancer. Carcinogenesis (Lond.), 17: 1313-1316, 1996.
57. Smith, C. A., Moss, J. E., Gough, A. C., Spurr, N. K., and Wolf, C. R. Molecular genetic analysis of the cytochrome P450-debrisoquine hydroxylase locus and association with cancer susceptibility. Environ. Health Perspect., 98: 107-112, 1992.
58. Southey, M. C., Batten, L. E., McCredie, M. R. E., Giles, G. C., Dite, G., Hopper, J. L., and Venter, D. J. Estrogen receptor polymorphism at codon 325 and risk of breast cancer in women before age forty. J. Natl. Cancer Inst., 90: 533-536, 1998.
59. Taioli, E., Trachman, J., Chen, X., Toniolo, P., and Carte, S. J. A CYP1A1 restriction fragment length polymorphism is associated with breast cancer in African-American women. Cancer Res., 55: 3757-3758, 1995.
60. Thompson, P. A., Shields, P. G., Fruedenheim, J. L., Stone, A., Vena, J. E., Marshall, J. R., Graham, S., Laughlin, R., Nemoto, T., Kadlubar, F. F., and Ambrosone, C. B. Genetic polymorphisms in catechol-O-methyltransferase, menopausal status and breast cancer risk. Cancer Res., 58: 2107-2110, 1998.
61. Wang-Gohrke, S., Rebbeck, T. R., Besenfelder, W., Kreienberg, R., and Runnebauim, I. B. p53 germline polymorphisms are associated with an increased risk for breast cancer in German women. Anticancer Res., 18: 2095-2099, 1998.
62. Weston, A., Pan, C-F., Bleiweiss, I. J., Ksieski, H. B., Roy. N., Maloney, N., and Wolff, M. S. CYP17 genotype and breast cancer risk. Cancer Epidemiol., Biomarkers & Prev., 7: 941-944, 1998.
63. Zheng, W., Deitz, A. C., Campbell, D. R., Wen, W. Q., Cerhan, J. R., Sellers. T. A., Folsom, A. R., and Hein, D. W. N-acetyltransferase 1 genetic polymorphism, cigarette smoking, well-done meat intake, and breast cancer risk. Cancer Epidemiol., Biomarkers & Prev., 8: 233-239, 1999.
64. Zhong, S., Wyllie, A. H., Barnes, D., Wolf, C. R., and Spurr, N. K. Relationship between the GSTM1 genetic polymorphism and susceptibility to bladder, breast and colon cancer. Carcinogenesis (Lond.), 14: 1821-1824, 1993.
65. Healey, C. S., Dunning, A. M., Durocher, F., Teare, D., Easton, D. F., and Ponder, B. A. J. Polymorphisms in the human aromatase cytochrome P450 gene (CYP19) and breast cancer risk. Carcinogenesis (Lond.), in press, 1999.
66. Collins, F. S., Guyer, M. S., and Charkravarti, A. Variations on a theme: cataloging human DNA sequence variation. Science (Washington DC), 278: 1580-1581, 1997.
67. Easton, D. F. Cancer risks in A-T heterozygotes. Int. J. Radiat. Biol., 66: S177-S182 1994.