ESR1 gene promoter region methylation in free circulating DNA and its correlation with estrogen receptor protein expression in tumor tissue in breast cancer patients

BMC Cancer

Volumn 14, Issue 1, 2014, Pages

  Martínez Galán, Joaquina ^a   Torres Torres, Blanca ^b   Núñez, María I ^c   López Peñalver, Jesús ^b   Del Moral, Rosario ^a   Ruiz De Almodóvar, José M ^b   Menjón, Salomón ^a   Concha, Ángel ^a   Chamorro, Clara ^a   Ríos, Sandra ^c   Delgado, Juan R ^a  

^a HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

^b UNIVERSITY OF GRANADA   (Spain)

^c UNIVERSITY OF GRANADA   (Spain)

Author keywords

Breast cancer; Luminal phenotypes; Methylation

Indexed keywords

ADULT; AGED; AGED, 80 AND OVER; BREAST NEOPLASMS; CPG ISLANDS; DNA METHYLATION; ESTROGEN RECEPTOR ALPHA; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENE SILENCING; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MIDDLE AGED; PHENOTYPE; POLYMERASE CHAIN REACTION; PROGNOSIS; PROMOTER REGIONS, GENETIC; TRIPLE NEGATIVE BREAST NEOPLASMS; TUMOR MARKERS, BIOLOGICAL;

EID: 84893186983     PISSN: None     EISSN: 14712407     Source Type: Journal    
DOI: 10.1186/1471-2407-14-59     Document Type: Article

References (33)

1. Sotiriou C, Desmedt C. Gene expression profiling in breast cancer. Ann Oncol 2006, 17(Suppl 10):x259-x262. 10.1093/annonc/mdl270, 17018735.
2. Hortobagyi GN. Treatment of breast cancer. N Engl J Med 1998, 339(14):974-984. 10.1056/NEJM199810013391407, 9753714.
3. Yang X, Yan L, Davidson NE. DNA methylation in breast cancer. Endocr Relat Cancer 2001, 8(2):115-127. 10.1677/erc.0.0080115, 11446343.
4. Sotiriou C, Neo SY, McShane LM, Korn EL, Long PM, Jazaeri A, Martiat P, Fox SB, Harris AL, Liu ET. Breast cancer classification and prognosis based on gene expression profiles from a population-based study. Proc Natl Acad Sci USA 2003, 100(18):10393-10398. 10.1073/pnas.1732912100, 193572, 12917485.
5. Michiels S, Koscielny S, Hill C. Prediction of cancer outcome with microarrays: a multiple random validation strategy. Lancet 2005, 365(9458):488-492. 10.1016/S0140-6736(05)17866-0, 15705458.
6. Ein-Dor L, Kela I, Getz G, Givol D, Domany E. Outcome signature genes in breast cancer: is there a unique set?. Bioinformatics 2005, 21(2):171-178. 10.1093/bioinformatics/bth469, 15308542.
7. Li E, Beard C, Forster AC, Bestor TH, Jaenisch R. DNA methylation, genomic imprinting, and mammalian development. Cold Spring Harb Symp Quant Biol 1993, 58:297-305. 10.1101/SQB.1993.058.01.035, 7956042.
8. Forne T, Oswald J, Dean W, Saam JR, Bailleul B, Dandolo L, Tilghman SM, Walter J, Reik W. Loss of the maternal H19 gene induces changes in Igf2 methylation in both cis and trans. Proc Natl Acad Sci USA 1997, 94(19):10243-10248. 10.1073/pnas.94.19.10243, 23347, 9294195.
9. Heard E, Avner P. Role play in X-inactivation. Hum Mol Genet 1994, 3(Spec No):1481-1485.
10. Chan MF, Liang G, Jones PA. Relationship between transcription and DNA methylation. Curr Top Microbiol Immunol 2000, 249:75-86.
11. Yoder JA, Walsh CP, Bestor TH. Cytosine methylation and the ecology of intragenomic parasites. Trends Genet 1997, 13(8):335-340. 10.1016/S0168-9525(97)01181-5, 9260521.
12. Paulsen M, Ferguson-Smith AC. DNA methylation in genomic imprinting, development, and disease. J Pathol 2001, 195(1):97-110. 10.1002/path.890, 11568896.
13. Dumitrescu RG. Epigenetic markers of early tumor development. Methods Mol Biol 2012, 863:3-14. 10.1007/978-1-61779-612-8_1, 22359284.
14. Kastl L, Brown I, Schofield AC. Altered DNA methylation is associated with docetaxel resistance in human breast cancer cells. Int J Oncol 2010, 36(5):1235-1241.
15. Lapidus RG, Nass SJ, Davidson NE. The loss of estrogen and progesterone receptor gene expression in human breast cancer. J Mammary Gland Biol Neoplasia 1998, 3(1):85-94. 10.1023/A:1018778403001, 10819507.
16. Ray S, Fry MJ, Darbre PD. Enhanced sensitivity to rapamycin following long-term oestrogen deprivation in MCF-7, T-47-D and ZR-75-1 human breast cancer cells. J Endocrinol 2011, 208(1):21-29. 10.1677/JOE-10-0137, 20947540.
17. Lapidus RG, Nass SJ, Butash KA, Parl FF, Weitzman SA, Graff JG, Herman JG, Davidson NE. Mapping of ER gene CpG island methylation-specific polymerase chain reaction. Cancer Res 1998, 58(12):2515-2519.
18. 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(10):2552-2555.
19. Valenzuela MT, Galisteo R, Zuluaga A, Villalobos M, Nunez MI, Oliver FJ, Ruiz de Almodovar JM. Assessing the use of p16(INK4a) promoter gene methylation in serum for detection of bladder cancer. Eur Urol 2002, 42(6):622-628. discussion 628-630, 10.1016/S0302-2838(02)00468-2, 12477660.
20. Martinez-Galan J, Torres B, Del Moral R, Munoz-Gamez JA, Martin-Oliva D, Villalobos M, Nunez MI, Luna Jde D, Oliver FJ, Ruiz de Almodovar JM. Quantitative detection of methylated ESR1 and 14-3-3-sigma gene promoters in serum as candidate biomarkers for diagnosis of breast cancer and evaluation of treatment efficacy. Cancer Biol Ther 2008, 7(6):958-965. 10.4161/cbt.7.6.5966, 18379196.
21. Zurita M, Lara PC, del Moral R, Torres B, Linares-Fernandez JL, Arrabal SR, Martinez-Galan J, Oliver FJ, Ruiz de Almodovar JM. Hypermethylated 14-3-3-sigma and ESR1 gene promoters in serum as candidate biomarkers for the diagnosis and treatment efficacy of breast cancer metastasis. BMC Cancer 2010, 10:217. 10.1186/1471-2407-10-217, 2889892, 20487521.
22. 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(18):9821-9826. 10.1073/pnas.93.18.9821, 38513, 8790415.
23. Hoque MO, Topaloglu O, Begum S, Henrique R, Rosenbaum E, Van Criekinge W, Westra WH, Sidransky D. Quantitative methylation-specific polymerase chain reaction gene patterns in urine sediment distinguish prostate cancer patients from control subjects. J Clin Oncol 2005, 23(27):6569-6575. 10.1200/JCO.2005.07.009, 16170165.
24. Bastian PJ, Palapattu GS, Lin X, Yegnasubramanian S, Mangold LA, Trock B, Eisenberger MA, Partin AW, Nelson WG. Preoperative serum DNA GSTP1 CpG island hypermethylation and the risk of early prostate-specific antigen recurrence following radical prostatectomy. Clin Cancer Res 2005, 11(11):4037-4043. 10.1158/1078-0432.CCR-04-2446, 15930338.
25. Sasaki M, Tanaka Y, Perinchery G, Dharia A, Kotcherguina I, Fujimoto S, Dahiya R. Methylation and inactivation of estrogen, progesterone, and androgen receptors in prostate cancer. J Natl Cancer Inst 2002, 94(5):384-390. 10.1093/jnci/94.5.384, 11880477.
26. Kuukasjarvi T, Kononen J, Helin H, Holli K, Isola J. Loss of estrogen receptor in recurrent breast cancer is associated with poor response to endocrine therapy. J Clin Oncol 1996, 14(9):2584-2589.
27. Fuqua SA, Allred DC, Elledge RM, Krieg SL, Benedix MG, Nawaz Z, O'Malley BW, Greene GL, McGuire WL. The ER-positive/PgR-negative breast cancer phenotype is not associated with mutations within the DNA binding domain. Breast Cancer Res Treat 1993, 26(2):191-202. 10.1007/BF00689692, 8219256.
28. Muller HM, Widschwendter A, Fiegl H, Ivarsson L, Goebel G, Perkmann E, Marth C, Widschwendter M. DNA methylation in serum of breast cancer patients: an independent prognostic marker. Cancer Res 2003, 63(22):7641-7645.
29. Widschwendter M, Siegmund KD, Muller HM, Fiegl H, Marth C, Muller-Holzner E, Jones PA, Laird PW. Association of breast cancer DNA methylation profiles with hormone receptor status and response to tamoxifen. Cancer Res 2004, 64(11):3807-3813. 10.1158/0008-5472.CAN-03-3852, 15172987.
30. Yang J, Mani SA, Donaher JL, Ramaswamy S, Itzykson RA, Come C, Savagner P, Gitelman I, Richardson A, Weinberg RA. Twist, a master regulator of morphogenesis, plays an essential role in tumor metastasis. Cell 2004, 117(7):927-939. 10.1016/j.cell.2004.06.006, 15210113.
31. Prabhu JS, Wahi K, Korlimarla A, Correa M, Manjunath S, Raman N, Srinath BS, Sridhar TS. The epigenetic silencing of the estrogen receptor (ER) by hypermethylation of the ESR1 promoter is seen predominantly in triple-negative breast cancers in Indian women. Tumour Biol 2012, 33(2):315-323. 10.1007/s13277-012-0343-1, 22362381.
32. Ramezani F, Salami S, Omrani MD, Maleki D. CpG island methylation profile of estrogen receptor alpha in Iranian females with triple negative or non-triple negative breast cancer: new marker of poor prognosis. Asian Pac J Cancer Prev 2012, 13(2):451-457. 10.7314/APJCP.2012.13.2.451, 22524805.
33. Lapidus RG, Ferguson AT, Ottaviano YL, Parl FF, Smith HS, Weitzman SA, Baylin SB, Issa JP, Davidson NE. 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(5):805-810.