Promoter hypermethylation and BRCA1 inactivation in sporadic breast and ovarian tumors

Journal of the National Cancer Institute

Volumn 92, Issue 7, 2000, Pages 564-569

  Esteller, Manel ^a   Silva, Jose Maria ^b   Dominguez, Gemma ^b   Bonilla, Felix ^b   Matias Guiu, Xavier ^c   Lerma, Enrique ^c   Bussaglia, Elena ^c   Prat, Jaime ^c   Harkes, I Clara ^f   Repasky, Elizabeth A ^d   Gabrielson, Edward ^e   Schutte, Mieke ^f   Baylin, Stephen B ^a   Herman, James G ^a  

^a JOHNS HOPKINS UNIVERSITY   (United States)

^b HOSPITAL UNIVERSITARIO PUERTA DE HIERRO   (Spain)

^c HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f Johns Hopkins Oncology Center ^*

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; BREAST CANCER; CARCINOGENESIS; CONTROLLED STUDY; DNA METHYLATION; FEMALE; GENE INACTIVATION; GENE MUTATION; GENE SILENCING; HETEROZYGOSITY LOSS; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; MAJOR CLINICAL STUDY; ONCOGENE; OVARY TUMOR; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TUMOR SUPPRESSOR GENE;

EID: 0034607234     PISSN: 00278874     EISSN: None     Source Type: Journal    
DOI: 10.1093/jnci/92.7.564     Document Type: Article

References (40)

1. Hall JM, Lee MK, Newman B, Morrow JE, Anderson LA, Huey B, et al. Linkage of early-onset familial breast cancer to chromosome 17q21. Science 1990;250:1684-9.
2. Miki Y, Swensen J, Shattuck-Eidens D, Futreal PA, Harshman K, Tavtigian S, et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266: 66-71.
3. Friedman LS, Ostermeyer EA, Szabo CI, Dowd P, Lynch ED, Rowell SE, et al. Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families. Nat Genet 1994;8:399-404.
4. Castilla LH, Couch FJ, Erdos MR, Hoskins KF, Calzone K, Garber JE, et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994;8: 387-91.
5. Easton D. Breast cancer genes - what are the real risks? Nat Genet 1997;16:210-1.
6. Merajver SD, Pham TM, Caduff RF, Chen M, Poy EL, Cooney KA, et al. Somatic mutations in the BRCA1 gene in sporadic ovarian tumours. Nat Genet 1995;9:439-43.
7. Berchuck A, Heron KA, Carney ME, Lancaster JM, Fraser EG, Vinson VL, et al. Frequency of germline and somatic BRCAI mutations in ovarian cancer. Clin Cancer Res 1998;4: 2433-7.
8. Futreal PA, Soderkvist P, Marks JR, Iglehart JD, Cochran C, Barren JC, et al. Detection of frequent allelic loss on proximal chromosome 17q in sporadic breast carcinoma using microsatellite length polymorphisms. Cancer Res 1992;52:2624-7.
9. Schmutzler RK, Bierhoff E, Werkhausen T, Fimmers R, Speiser P, Kubista E, et al. Genomic deletions in the BRCA1, BRCA2 and TP53 regions associate with low expression of the estrogen receptor in sporadic breast carcinoma, Int J Cancer 1997;74:322-5.
10. Russell SE, Hickey GI. Lowry WS, White P, Atkinson RJ. Allele loss from chromosome 17 in ovarian cancer. Oncogene 1990;5:1581-3.
11. Thompson ME, Jensen RA, Obermiller PS. Page DL, Holt JT. Decreased expression of BRCA1 accelerates growth and is often present during sporadic breast cancer progression. Nat Genet 1995;9:444-50.
12. Wilson CA, Ramos L, Villasenor MR, Anders KH, Press MF, Clarke K, et al. Localization of human BRCA1 and its loss in high-grade, non-inherited breast carcinomas. Nat Genet 1999; 21:236-40.
13. Baylin SB, Herman JG, Graff JR, Vertino PM, Issa JP. Alterations in DNA methylation: a fundamental aspect of neoplasia. Adv Cancer Res 1998;72:141-96.
14. Jones PA, Laird PW. Cancer epigenetics comes of age. Nat Genet 1999;21:163-7.
15. Esteller M, Corn PG, Urena JM, Gabrielson E, Baylin SB, Herman JG. Inactivation of glutathione S-transferase Pl gene by promoter hypermethylation in human neoplasia. Cancer Res 1998;58:4515-8.
16. Esteller M. Hamilton SR. Burger PC, Baylin SB, Herman JG. Inactivation of the DNA repair gene O6-methylguanine-DNA methyl-transferase by promoter hypermethylation is a common event in primary human neoplasia. Cancer Res 1999;59:793-7.
17. Kane MF, Loda M, Gaida GM, Lipman J, Mishra R, Goldman H, et al. Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines. Cancer Res 1997;57:808-11.
18. Herman JG, Umar A. Polyak K, Graff JR, Ahuja N, Issa JP, et al. Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma. Proc Natl Acad Sci U S A 1998;95:6870-5.
19. Esteller M, Levine R, Baylin SB, Ellenson LH, Herman JG. MLH1 promoter hypermethylation is associated with the microsatellite instability phenotype in sporadic endometrial carcinomas. Oncogene 1998;17:2413-7.
20. Dobrovic A, Simpfendorfer D, Methylation of the BRCAI gene in sporadic breast cancer. Cancer Res 1997;57:3347-50.
21. Rice JC, Massey-Brown KS, Futscher BW. Aberrant methylation of the BRCA1 CpG island promoter is associated with decreased BRCA1 mRNA in sporadic breast cancer cells. Oncogene 1998;17:1807-12.
22. Mancini DN, Rodenhiser DI, Ainsworth PJ, O'Malley FP, Singh SM, Xing W, et al. CpG methylation within the 5′ regulatory region of the BRCA1 gene is tumor specific and includes a putative CREB binding site. Oncogene 1998; 16:1161-9.
23. Magdinier F, Ribieras S, Lenoir GM, Frappart L, Dante R. Down-regulation of BRCA1 in human sporadic breast cancer; analysis of DNA methylation patterns of the putative promoter region. Oncogene 1998;17:3169-76.
24. Catteau A, Harris WH, Xu CF, Solomon E. Methylation of the BRCA1 promoter region in sporadic breast and ovarian cancer: correlation with disease characteristics. Oncogene 1999; 18:1957-65.
25. Suva JM, Gonzalez R, Provencio M, Dominguez G, Garcia JM, Gallego I, et al. Loss of heterozygosity in BRCA1 and BRCA2 markers and high-grade malignancy in breast cancer. Breast Cancer Res Treat 1999;53:9-17.
26. Oto M, Miyake S, Yuasa Y. Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus. Ann Biochem 1993;213:19-22.
27. Schott DR, Chang JN, Deng G, Kurisu W, Kuo WL, Gray J, et al. A candidate tumor suppressor gene in human breast cancers. Cancer Res 1999;54:1393-6.
28. Sakakibara T, Xu Y, Bumpers HL, Chen FA, Bankert RB, Arredondo MA, et al. Growth and metastasis of surgical specimens of human breast carcinomas in SCID mice. Cancer J Sci Am 1996;2:291-300.
29. Herman JG, Graff JR, Myohanen S, Nelkin BD, Baylin SB. Methylation specific PCR: a novel PCR assay for methylation status of CpG islands. Proc Natl Acad Sci USA 1996;93: 9821-6.
30. Xu CF, Brown MA, Chambers JA, Griffiths B, Nicolai H, Solomon E. Distinct transcription start sites generate two forms of BRCA1 mRNA. Hum Mol Genet 1995;4:2259-64.
31. Breast Cancer Linkage Consortium. Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Lancet 1997; 349:1505-10.
32. Armes JE, Egan AJ, Southey MC, Dite GS, McCredie MR, Giles GG, et al. The histologie phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations: a population-based study. Cancer 1998;83: 2335-45.
33. Eisinger F, Jacquemier J, Charpin C, Stoppa-Lyonnet D, Bressac-de Paillerets B, Peyrat JP, et al. Mutations at BRCA1: the medullary breast carcinoma revisited. Cancer Res 1998; 58:1588-92.
34. Knudson AG Jr, Hethcote HW, Brown BW. Mutation and childhood cancer: a probabilistic model for the incidence of retinoblastoma. Proc Natl Acad Sci USA 1975;72:5116-20.
35. Thibodeau SN, French AJ, Roche PC, Cunningham JM, Tester DJ, Lindor NM, et al. Altered expression of hMSH2 and hMLH1 in tumors with microsatellite instability and genetic alterations in mismatch repair genes. Cancer Res 1996;56:4836-40.
36. Garcia-Patino E. Gomendio B, Lleonart M, Silva JM, Garcia JM, Provencio M, et al. Loss of heterozygosity in the region including the BRCAI gene on 17q in colon cancer. Cancer Genet Cytogenet 1998;104:119-23.
37. Eisinger F, Jacquemier J, Guinebretiere JM, Birnbaum D, Sobol H. p53 involvement in BRCA1-associated breast cancer [letter]. Lancet 1997;350:1101.
38. Crook T, Brooks LA, Crossland S, Osin P, Barker KT, Waller J. et al. P53 mutation with frequent novel codons but not a mutator phenotype in BRCA1- and BRCA2-associated breast tumors. Oncogene 1998;17:1681-9.
39. de Cremoux P, Salomon AV, Liva S, Dendale R. Bouchind'homme B, Martin E, et al. p53 mutation as a genetic trait of typical medullary breast carcinoma. J Natl Cancer Inst 1999;7; 91:641-3.
40. Phillips KA, Nichol K, Ozcelik H, Knight J, Done SJ, Goodwin PJ, et al. Frequency of p53 mutations in breast carcinomas from Ashkenazi Jewish carriers of BRCA1 mutations. J Natl Cancer Inst 1999;91:469-73.