DNA hypermethylation of ESR1 and PGR in breast cancer: Pathologic and epidemiologic associations

Cancer Epidemiology Biomarkers and Prevention

Volumn 18, Issue 11, 2009, Pages 3036-3043

  Gaudet, Mia M ^a   Campan, Mihaela ^b   Figueroa, Jonine D ^c   Yang, Xiaohong R ^c   Lissowska, Jolanta ^c,d   Peplonska, Beata ^e   Brinton, Louise A ^c   Rimm, David L ^f   Laird, Peter W ^b   Garcia Closas, Montserrat ^c   Sherman, Marke ^c  

^a ALBERT EINSTEIN COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^c NATIONAL CANCER INSTITUTE   (United States)

^d INSTITUTE OF ONCOLOGY   (Poland)

^e NOFER INSTITUTE OF OCCUPATIONAL MEDICINE   (Poland)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTINEOPLASTIC AGENT; DNA; ESR1 PROTEIN; ESTROGEN RECEPTOR ALPHA; PGR PROTEIN; PROGESTERONE RECEPTOR; PROTEIN; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; BREAST CANCER; CANCER CHEMOTHERAPY; CANCER INVASION; CANCER RADIOTHERAPY; CANCER RISK; CASE CONTROL STUDY; CONTROLLED STUDY; CPG ISLAND; DNA EXTRACTION; DNA METHYLATION; FEMALE; GENE SILENCING; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; POPULATION RESEARCH; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; RISK FACTOR;

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CASE-CONTROL STUDIES; DNA METHYLATION; DNA, NEOPLASM; ESTROGEN RECEPTOR ALPHA; FEMALE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MIDDLE AGED; NEOPLASM INVASIVENESS; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; PROGNOSIS; TUMOR MARKERS, BIOLOGICAL;

EID: 72749106092     PISSN: 10559965     EISSN: None     Source Type: Journal    
DOI: 10.1158/1055-9965.EPI-09-0678     Document Type: Article

References (49)

1. Potter JD, Cerhan JR, Sellers TA, et al. Progesterone and estrogen receptors and mammary neoplasia in the Iowa Women's Health Study: howmany kinds of breast cancer are there? Cancer Epidemiol Biomarkers Prev 1995;4:319-326
2. + breast cancer incidence: a possible explanation (United States). Cancer Causes Control 2002;13:7-14.
3. Anderson WF, Chatterjee N, Ershler WB, Brawley OW. Estrogen receptor breast cancer phenotypes in the Surveillance, Epidemiology, and End Results database. Breast Cancer Res Treat 2002;76:27-36.
4. Murphy N, Millar E, Lee CS. Gene expression profiling in breast cancer: towards individualising patient management. Pathology 2005;37: 271-277 (Pubitemid 41208322)
5. Althuis MD, Fergenbaum JH, Garcia-Closas M, Brinton LA, Madigan MP, Sherman ME. Etiology of hormone receptor-defined breast cancer: a systematic reviewo f the literature. Cancer Epidemiol Biomarkers Prev 2004;13:1558-1568 (Pubitemid 39331875)
6. Schairer C, Mink PJ, Carroll L, Devesa SS. Probabilities of death from breast cancer and other causes among female breast cancer patients. J Natl Cancer Inst 2004;96:1311-1321 (Pubitemid 39264120)
7. Giacinti L, Claudio PP, Lopez M, Giordano A. Epigenetic information and estrogen receptor α expression in breast cancer. Oncologist 2006; 11:1-8. (Pubitemid 43152681)
8. Laird PW. Cancer epigenetics. Hum Mol Genet 2005;14 Spec No 1: R65-76.
9. Ferguson AT, Lapidus RG, Baylin SB, Davidson NE. Demethylation of the estrogen receptor gene in estrogen receptor-negative breast cancer cells can reactivate estrogen receptor gene expression. Cancer Res 1995;55:2279-2283
10. Ottaviano YL, Issa JP, Parl FF, Smith HS, Baylin SB, Davidson NE. Methylation of the estrogen receptor gene CpG island marks loss of estrogen receptor expression in human breast cancer cells. Cancer Res 1994;54:2552-2555 (Pubitemid 24173735)
11. Ushijima T. Detection and interpretation of altered methylation patterns in cancer cells. Nat Rev Cancer 2005;5:223-231 (Pubitemid 40314953)
12. Yoshida T, Eguchi H, Nakachi K, et al. Distinct mechanisms of loss of estrogen receptor α gene expression in human breast cancer: methylation of the gene and alteration of trans-acting factors. Carcinogenesis 2000;21:2193-2201 (Pubitemid 32049225)
13. Lapidus RG, Ferguson AT, Ottaviano YL, et al. Methylation of estrogen and progesterone receptor gene 5′ CpG islands correlates with lack of estrogen and progesterone receptor gene expression in breast tumors. Clin Cancer Res 1996;2:805-810
14. Yan L, Yang X, Davidson NE. Role of DNA methylation and histone acetylation in steroid receptor expression in breast cancer. J Mammary Gland Biol Neoplasia 2001;6:183-192 (Pubitemid 39600509)
15. Iwase H, Omoto Y, Iwata H, et al. DNA methylation analysis at distal and proximal promoter regions of the oestrogen receptor gene in breast cancers. Br J Cancer 1999;80:1982-1986 (Pubitemid 29391285)
16. Fabianowska-Majewska K, Kordek R, Krawczyk B. Studies on the methylation status of CpG sequences located in promoters of selected tumour suppressor genes in breast cancer cells. Nucleosides Nucleotides Nucleic Acids 2006;25:1025-1028 (Pubitemid 44651841)
17. Hori M, Iwasaki M, Yoshimi F, Asato Y, Itabashi M. Hypermethylation of the estrogen receptor α gene is not related to lack of receptor protein in human breast cancer. Breast Cancer 1999;6:79-86.
18. Lapidus RG, Nass SJ, Butash KA, et al. Mapping of ER gene CpG island methylation-specific polymerase chain reaction. Cancer Res 1998; 58:2515-2519 (Pubitemid 28275417)
19. Parrella P, Poeta ML, Gallo AP, et al. Nonrandom distribution of aberrant promoter methylation of cancer-related genes in sporadic breast tumors. Clin Cancer Res 2004;10:5349-5354 (Pubitemid 39100470)
20. Mc Cormack O, Chung WY, Fitzpatrick P, et al. Progesterone receptor B (PRB) promoter hypermethylation in sporadic breast cancer: progesterone receptor B hypermethylation in breast cancer. Breast Cancer Res Treat 2008;111:45-53. (Pubitemid 352009226)
21. Garcia-Closas M, Brinton LA, Lissowska J, et al. Established breast cancer risk factors by clinically important tumour characteristics. Br J Cancer 2006;95:123-129 (Pubitemid 43980566)
22. McCabe A, Dolled-Filhart M, Camp RL, Rimm DL. Automated quantitative analysis (AQUA) of in situ protein expression, antibody concentration, and prognosis. J Natl Cancer Inst 2005;97:1808-1815
23. Camp RL, Chung GG, Rimm DL. Automated subcellular localization and quantification of protein expression in tissue microarrays. Nat Med 2002;8:1323-1327 (Pubitemid 35373567)
24. Sherman ME, Rimm DL, Yang XR, et al. Variation in breast cancer hormone receptor and HER2 levels by etiologic factors: a population-based analysis. Int J Cancer 2007;121:1079-1085
25. Flouriot G, Griffin C, Kenealy M, Sonntag-Buck V, Gannon F. Differentially expressed messenger RNA isoforms of the human estrogen receptor-α gene are generated by alternative splicing and promoter usage. Mol Endocrinol 1998;12:1939-1954 (Pubitemid 28544188)
26. Kastner P, Krust A, Turcotte B, et al. Two distinct estrogen-regulated promoters generate transcripts encoding the two functionally different human progesterone receptor forms A and B. EMBO J 1990;9: 1603-1614 (Pubitemid 20137018)
27. Irizarry RA, Ladd-Acosta C, Wen B, et al. The human colon cancer methylome shows similar hypo- and hypermethylation at conserved tissue-specific CpG island shores. Nat Genet 2009;41:178-186
28. Feinberg AP, Tycko B. The history of cancer epigenetics. Nat Rev Cancer 2004;4:143-153
29. Gardiner-Garden M, Frommer M. CpG islands in vertebrate genomes. J Mol Biol 1987;196:261-282
30. Eads CA, Danenberg KD, Kawakami K, et al. MethyLight: a high-throughput assay to measure DNA methylation. Nucleic Acids Res 2000;28:E32.
31. Weisenberger DJ, Siegmund KD, Campan M, et al. CpG island methylator phenotype underlies sporadic microsatellite instability and is tightly associated with BRAF mutation in colorectal cancer. Nat Genet 2006;38:787-793 (Pubitemid 43980599)
32. Eads CA, Lord RV, Wickramasinghe K, et al. Epigenetic patterns in the progression of esophageal adenocarcinoma. Cancer Res 2001;61: 3410-3418 (Pubitemid 32695034)
33. Widschwendter M, Siegmund KD, Muller HM, et al. Association of breast cancer DNA methylation profiles with hormone receptor status and response to tamoxifen. Cancer Res 2004;64:3807-3813 (Pubitemid 38697289)
34. Yang XR, Pfeiffer RM, Garcia-Closas M, et al. Hormonal markers in breast cancer: coexpression, relationship with pathologic characteristics, and risk factor associations in a population-based study. Cancer Res 2007;67:10608-10617 (Pubitemid 350070838)
35. Reid G, Denger S, Kos M, Gannon F. Human estrogen receptor-α: regulation by synthesis, modification and degradation. Cell Mol Life Sci 2002;59:821-831
36. Ogino S, Kawasaki T, Brahmandam M, et al. Precision and performance characteristics of bisulfite conversion and real-time PCR (MethyLight) for quantitative DNA methylation analysis. J Mol Diagn 2006;8:209-217 (Pubitemid 43811244)
37. Li S, Rong M, Iacopetta B. DNA hypermethylation in breast cancer and its association with clinicopathological features. Cancer Lett 2006;237:272-280 (Pubitemid 43792523)
38. Vegeto E, Shahbaz MM, Wen DX, Goldman ME, O'Malley BW, McDonnell DP. Human progesterone receptor A form is a cell- and promoter-specific repressor of human progesterone receptor B function. Mol Endocrinol 1993;7:1244-1255 (Pubitemid 23319107)
39. Conneely OM, Jericevic BM, Lydon JP. Progesterone receptors in mammary gland development and tumorigenesis. J Mammary Gland Biol Neoplasia 2003;8:205-214 (Pubitemid 38129942)
40. Mulac-Jericevic B, Lydon JP, DeMayo FJ, Conneely OM. Defective mammary gland morphogenesis in mice lacking the progesterone receptor B isoform. Proc Natl Acad Sci U S A 2003;100: 9744-9749 (Pubitemid 37087012)
41. Leu YW, Yan PS, Fan M, et al. Loss of estrogen receptor signaling triggers epigenetic silencing of downstream targets in breast cancer. Cancer Res 2004;64:8184-8192 (Pubitemid 39491754)
42. Hayashi S, Imai K, Suga K, Kurihara T, Higashi Y, Nakachi K. Two promoters in expression of estrogen receptor messenger RNA in human breast cancer. Carcinogenesis 1997;18:459-464 (Pubitemid 28132480)
43. Jaenisch R, Bird A. Epigenetic regulation of gene expression: howthe genome integrates intrinsic and environmental signals. Nat Genet 2003;33 Suppl:245-254 (Pubitemid 36278835)
44. Bjornsson HT, Fallin MD, Feinberg AP. An integrated epigenetic and genetic approach to common human disease. Trends Genet 2004;20: 350-358
45. Jirtle RL, Skinner MK. Environmental epigenomics and disease susceptibility. Nat Rev Genet 2007;8:253-262
46. Fraga MF, Ballestar E, Paz MF, et al. Epigenetic differences arise during the lifetime of monozygotic twins. Proc Natl Acad Sci U S A 2005; 102:10604-10609 (Pubitemid 41061601)
47. Jost JP, Saluz HP. Steroid hormone dependent changes in DNA methylation and its significance for the activation or silencing of specific genes. EXS 1993;64:425-451
48. Ho SM, Tang WY, Belmonte de Frausto J, Prins GS. Developmental exposure to estradiol and bisphenol A increases susceptibility to prostate carcinogenesis and epigenetically regulates phosphodiesterase type 4 variant 4. Cancer Res 2006;66:5624-5632
49. Konecny G, Pauletti G, Pegram M, et al. Quantitative association between HER-2/neu and steroid hormone receptors in hormone receptor-positive primary breast cancer. J Natl Cancer Inst 2003;95: 142-153 (Pubitemid 36193263)