Constitutional genetic variation at the human aromatase gene (Cyp19) and breast cancer risk

British Journal of Cancer

Volumn 79, Issue 3-4, 1999, Pages 456-463

  Siegelmann Danieli, N ^a,b   Buetow, K H ^a  

^a FOX CHASE CANCER CENTER   (United States)

^b RAMBAM MEDICAL CENTER   (Israel)

Author keywords

Aromatase gene; Breast cancer; Cyp19; Oestrogens

Indexed keywords

ANDROGEN; AROMATASE; ESTROGEN;

ADULT; AGED; ALLELE; ARTICLE; BREAST CANCER; CAUCASIAN; CONTINGENCY TABLE; CONTROLLED STUDY; EXON; FAMILIAL CANCER; FEMALE; GENETIC POLYMORPHISM; GENETIC VARIABILITY; GENOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NUCLEOTIDE REPEAT; PRIORITY JOURNAL;

ADULT; AGE OF ONSET; AGED; ALLELES; AMINO ACID SEQUENCE; AROMATASE; BREAST NEOPLASMS; DNA PRIMERS; DNA, NEOPLASM; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POLYMORPHISM, GENETIC; RISK FACTORS; SEQUENCE ANALYSIS, DNA; VARIATION (GENETICS);

EID: 0032961719     PISSN: 00070920     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.bjc.6690071     Document Type: Article

References (48)

1. Agarwal VR, Bulun SE, Leitch M, Rohrich R and Simpson ER (1996) Use of alternative promoters to express the aromatase cytochrome P450 (CYP19) gene in breast adipose tissues of cancer-free and breast cancer patients. J Clin Endocrinol Metab 81: 3843-3849
2. American Joint Committee on Cancer (1992) Manual for staging of cancer, 4th edn. In Breast, pp. 149-154. JB Lipincott: Philadelphia
3. Berrino F, Muti P, Micheli A, Gianfranco B, Krogh V, Sciajno R, Pisani P, Panico S and Secreto G (1996) Serum sex hormone levels after menopause and subsequent breast cancer. J Natl Cancer Inst 88: 291-296
4. Brook JD, McCurrach ME, Harley HG, Buckler AJ, Church D, Aburatani H, Hunter K, Stanton VP, Thirion JP, Hudson T, Sohn R, Zemelman B, Snell RG, Rundle SA, Crow S, Davies J, Shelbourne P, Buxton J, Jones C, Juvonen V, Johnson K, Harper PS, Shaw DJ and Housman DE (1992) Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68: 799-808
5. Buetow KH (1996) Genetic mapping. In Current Protocols in Human Genetics. Dracopoli N, Haines JL, Korf BR, Morton CC, Seidman CE, Seidman JG, Moir DT and Smith D (eds.), section 1, pp. 1.0.1-1.10.8. John Wiley & Sons: Brooklyn, NY
6. Bulun SE and Simpson ER (1994) Regulation of aromatase expression in human tissues. Breast Cancer Res Treat 30: 19-29
7. Chen S, Besman MJ, Sparkes RS, Zollman S, Klisak I, Mohandas T, Hall PF and Shively JE (1988) Human aromatase: cDNA cloning, Southern blot analysis, and assignment of the gene to chromosome 15. DNA 7: 27-38
8. Conte FA, Grumbach MM, Ito Y, Fisher CR and Simpson ER (1994) A syndrome of female pseudohermaphrodism, hypergonadotropic hypogonadism, and multicystic ovaries associated with missense mutations in the gene encoding aromatase (P450arom). J Clin Endrocrinol Metab 78: 1287-1292
9. Corbin CJ, Graham-Lorence S, McPhaul M, Mason Ji, Mendelson CR and Simpson ER (1988) Isolation of a full-length cDNA insert encoding human aromatase system cytochrome P-450 and its expression in nonsteroidogenic cells. Proc Natl Acad Sci USA 85: 8948-8952
10. Durgam VR and Tekmal RR (1994) The nature and expression of int-5, a novel MMTV integration locus gene in carcinogen-induced mammary tumors. Cancer Lett 87: 179-186
11. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RGJ, Warren ST, Oostra BA, Nelson DL and Caskey CT (1991) Variation of the CGG repeat at the fragile X site. Results in genetic instability: resolution of the Sherman Paradox. Cell 67: 1047-1058
12. Green M and Krontiris TG (1993) Allelic variation of reporter gene activation by the HRASI minisatellite. Genomics 17: 429-434
13. Gunson DE, Steele RE and Chau RY. (1995) Prevention of spontaneous tumours in female rats by fadrozole hydrochloride, an aromatase inhibitor. Br J Cancer 72: 72-75
14. Harada N (1988) Cloning of a complete cDNA encoding human aromatase: immunochemical identification and sequence analysis. Biochem Biophys Res Commun 156: 725-732
15. Harada N, Yamada K, Saito K, Kibe N, Dohmae S and Takagi Y (1990) Structural characterization of the human estrogen synthetase (aromatase) gene. Biochem Biophys Res Commun 166: 365-372
16. Harada N, Ogawa H, Shozu M, Yamada K, Suhara K, Nishida E and Takagi Y (1992) Biochemical and molecular genetic analyses on placental aromatase (P450Arom) deficiency. J Biol Chem 267: 4781-4785
17. Harada N, Utsumi T and Takagi Y (1993) Tissue-specific expression of the human aromatase cytochrome P-450 gene by alternative use of multiple exons 1 and promoters, and switching of tissue-specific exons 1 in carcinogenesis. Proc Natl Acad Sci USA 90: 11312-11316
18. Honda S, Harada N and Takagi Y (1994) Novel exon 1 of the aromatase gene specific for aromatase transcripts in human brain. Biochem Biophys Res Commun 198: 1153-1160
19. James VH, McNeill JM, Lai LC, Newton CJ, Ghilchik MW and Reed MJ (1987) Aromatase activity in normal breast and breast tumor tissues: in vivo and in vitro studies. Steroids 50: 269-279
20. Kennedy GC, German MS and Rutter WJ (1995) The minisatellite in the diabetes susceptibility locus IDDM2 regulates insulin transcription. Nature Genet 9: 293-298
21. Krontiris TG, DiMartino NA, Colb M and Parkinson D (1985) Unique allelic restriction fragments of the human Ha-ras locus in leukocytes and tumor DNAs of cancer patients. Nature 313: 369-374
22. Krontiris TG, Delvin B, Karp D, Robert NJ and Risch N (1993) An association between risk of cancer and mutations in the HRAS1 minisatellite locus. N Engl J Med 329: 517-523
23. Kunst KB and Warren ST (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861
24. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-Macdonald J, De Jong PJ, Wieringa B and Korneluk RG (1992) Myotonic dystrophy mutation: an unstable CTTG repeat in the 3′ untranslated region of the gene. Science 255: 1253-1258
25. Mahendroo MS, Mendelson CR and Simpson ER (1993) Tissue-specific and hormonally controlled alternative promoters regulate aromatas cytochrome P450 gene expression in human adipose tissue. J Biol Chem 268: 19463-19470
26. Means GD, Mahendroo MS, Corbin CJ, Mathis JM, Powell FE, Mendelson CR and Simpson ER (1989) Structural analysis of the gene encoding human aromatase cytochrome P-450, the enzyme responsible for estrogen biosynthesis. J Biol Chem 264: 19385-19391
27. Means GD, Kilgore MW, Mahendroo MS, Mendelson CR and Simpson ER (1991) Tissue-specific promoters regulate aromatase cytochrome P450 gene expression in human ovary and fetal tissues. Mol Endocrinol 5: 2005-2013
28. Mendelson CR, Means GD, Mahendroo ML, Corbin CJ, Steinkampf MP, Graham-Lorence S and Simpson ER (1990) Use of molecular probes to study regulation of aromatase cytochrome P-450. Biol Reprod 42: 1-10
29. Miller SA, Dykes DD and Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16: 1215
30. Polymeropoulos MH, Xiao H, Rath DS and Merril CR (1991)Tetranucleotide repeat polymorphism at the human aromatase cytochrome P-450 gene (CYP19). Nucleic Acids Res 19: 195
31. Purohit A, Ghilchik MW, Duncan L, Wang DY, Singh A, Walker MM and Reed MJ (1995) Aromatase activity and interleukin-6 production by normal and malignant breast tissues. J Clin Endocrinol Metab 80: 3052-3058
32. Ries LAG, Miller BA, Hankey BF, Kosary CL, Harras A and Edwards BK (1994) 1973-1991 Tables and graphs. National Cancer Institute. In SEER Cancer Statistics Review, p. 128. Publication no. 94-2789. NIH: Bethesda, MD
33. Santen RJ, Martel J, Hoagland M, Naftolin F, Roa L, Harada N, Hafer L, Zaino R and Santner SJ (1994) Stromal spindle cells contain aromatase in human breast tumors. J Clin Endocrinol Metab 79: 627-632
34. Sasano H, Nagura H, Harada N, Goukon Y and Kimura M (1994) Immunolocalization of aromatase and other steroidogenic enzymes in human breast disorders. Hum Pathol 25: 530-535
35. Schmidt M and Loffler G (1994). The human breast cancer cell line MDA-MB231 produces an aromatase stimulating activity. Eur J Cell Biol 63: 96-101
36. Sourdaine P, Parker MG, Telford J and Miller WR (1994) Analysis of the waromatase cytochrome P450 gene in human breast tumors. J Mol Endocrinol 13: 331-337
37. Stratakis CA, Voltero A, Brodie A, DeArkine D, Lu O, Mitsiades CS, Meada T, Yamamoto Y, Sagara Y, Ikeda H and Shizuta Y (1996) Biochemical and molecular genetics of the syndrome of increased aromatase activity: segregation with a marker from within the P450arom gene and evidence for aberrant alternative splicing of its 5′-end mRNA. Am J Hum Genet 59: A43
38. Tan L and Muto N (1986) Purification and reconstitution properties of human placental aromatase. A cytochrome P450-type monooxygenase. Eur J Biochem 156: 243-250
39. Tekmal RR and Durgam VR (1995) The overexpression of int-5/Aromatase, a novel MMTV integration locus gene, is responsible for D2 mammary tumor cell proliferation. Cancer Lett 88: 147-155
40. Toda K and Shizuta Y (1993) Molecular cloning of a cDNA showing alternative splicing of the 5′-untranslated sequence of mRNA for human aromatase P-450. Eur J Biochem 213: 383-389
41. Toda K, Terashima M, Kawamoto T, Sumimoto H, Yokoyama Y, Kuribayashi I, Mitsuuchi Y, Yue W, Flor AW, Gamica A, Mitsiadis CS and Chrousos GP (1990) Structural and functional characterization of human aromatase P-450 gene. Eur J Biochem 193: 559-565
42. Toda K, Yang L-X and Shizuta Y (1995) Transcriptional regulation of the human aromatase cytochrome P450 gene expression in human placental cells. J Steroid Biochem Mol Biol 53: 181-190
43. Trepicchio WL and Krontiris TG (1993) IGH minisatellite suppression of USF-binding-site-and Em-mediated transcriptional activation of the adenovirus major late promoter. Nucleic Acids Res 21: 977-985
44. Verkerk AJMH, Pieretti M, Stucliffe JS, Fu Y-H, Kihl DPA, Pizzuti A, Reiner O, Richards S, Victoria MF, Zhang F, Eussen BE, van Ommen BJB, Blonden LAJ, Riggins GJ, Chastain JL, Kunst CB, Galjaard H, Caskey T, Nelson DL, Oostra BA and Warren ST (1991) Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65: 905-914
45. Utsumi T, Harada N, Maruta M and Takagi Y (1996) Presence of alternatively spliced transcripts of aromatase gene in human breast cancer. J Clin Endocrinol Metab 81: 2344-2349
46. Zhao Y, Mendelson CR and Simpson ER (1995) Characterization of the sequences of the human CYP19 (aromatase) gene that mediate regulation by glucocorticoids in adipose stromal cells and fetal hepatocytes. Mol Endocrinol 9: 340-349
47. Zhou C, Zhou D, Esteban J, Murai J, Siiteri PK, Wilczynski S and Chen S (1996a) Aromatase gene expression and its exon I usage in human breast tumors. Detection of aromatase messenger RNA by reverse transcription-polymerase chain reaction. J Steroid Biochem Mol Biol 49: 163-171
48. Zhou D, Clarke P, Wang J and Chen S (1996b) Identification of a promoter that controls aromatase expression in human breast cancer and adipose stromal cells. J Biol Chem 25: 15194-15202