Publicacions

Understanding the Epigenetics Machinery: DNA Methyltransferases, Methyl-CpG Binding Proteins, Histone Modifiers and Chromatin Remodelling Factors

Sanchez-Beato M, Sanchez E, Garcia JF, Perez-Rosado A, Montoya MC, Fraga M, Jesus Artiga M, Navarrete M, Abraira V, Morente M, Esteller M, Koseki H, Vidal M, Piris MA.
Abnormal PcG protein expression in Hodgkin's lymphoma. Relation with E2F6 and NFkappaB transcription factors.
Int J Hematol. 2004 Aug;80(2):120-7.

Medina PP, Carretero J, Fraga MF, Esteller M, Sidransky D, Sanchez-Cespedes
M.
Genetic and Epigenetic screening for gene alterations of the chromatin-remodeling factor, SMARCA4/BRG1, in lung tumors.
Genes Chromosomes Cancer. 2004 Oct;41(2):170-7.

Espada J, Ballestar E, Fraga MF, Villar-Garea A, Juarranz A, Stockert JC,
Robertson KD, Fuks F, Esteller M.
Human DNA methyltransferase 1 is required for maintenance of the histone h3 modification pattern.
J Biol Chem. 2004 Aug 27;279(35):37175-84. Epub 2004 Jun 25.

Peinado H, Ballestar E, Esteller M, Cano A.
Snail mediates E-cadherin repression by the recruitment of the Sin3A/histone deacetylase 1 (HDAC1)/HDAC2 complex.
Mol Cell Biol. 2004 Jan;24(1):306-19.

Ballestar E, Paz MF, Valle L, Wei S, Fraga MF, Espada J, Cigudosa JC, Huang
TH, Esteller M.
Methyl-CpG binding proteins identify novel sites of epigenetic inactivation in human cancer.
EMBO J. 2003 Dec 1;22(23):6335-45.

Paz MF, Wei S, Cigudosa JC, Rodriguez-Perales S, Peinado MA, Huang TH,
Esteller M.
Genetic unmasking of epigenetically silenced tumor suppressor genes in colon cancer cells deficient in DNA methyltransferases.
Hum Mol Genet. 2003 Sep 1;12(17):2209-19. Epub 2003 Jul 15.

Fraga MF, Ballestar E, Montoya G, Taysavang P, Wade PA, Esteller M.
The affinity of different MBD proteins for a specific methylated locus depends on their intrinsic binding properties.
Nucleic Acids Res. 2003 Mar 15;31(6):1765-74.

Bolos V, Peinado H, Perez-Moreno MA, Fraga MF, Esteller M, Cano A.
The transcription factor Slug represses E-cadherin expression and induces epithelial to mesenchymal transitions: a comparison with Snail and E47
repressors.
J Cell Sci. 2003 Feb 1;116(Pt 3):499-511.

Fournier C, Goto Y, Ballestar E, Delaval K, Hever AM, Esteller M, Feil R.
Allele-specific histone lysine methylation marks regulatory regions at imprinted mouse genes.
EMBO J. 2002 Dec 2;21(23):6560-70.

Paz MF, Avila S, Fraga MF, Pollan M, Capella G, Peinado MA,
Sanchez-Cespedes M, Herman JG, Esteller M.
Germ-line variants in methyl-group metabolism genes and susceptibility to DNA methylation in normal tissues and human primary tumors.
Cancer Res. 2002 Aug 1;62(15):4519-24.

Epigenetics Reviews

Galm O, Esteller M.
Beyond genetics--the emerging role of epigenetic changes in hematopoietic malignancies.
J Pathol. 2004 Oct 7

Esteller M, Herman JG.
Generating mutations but providing chemosensitivity: the role of O6-methylguanine DNA methyltransferase in human cancer.
Oncogene. 2004 Jan 8;23(1):1-8. Review.

Esteller M.
Profiling aberrant DNA methylation in hematologic neoplasms: a view from the tip of the iceberg.
Clin Immunol. 2003 Oct;109(1):80-8. Review.

Esteller M.
Cancer epigenetics: DNA methylation and chromatin alterations in human cancer.
Adv Exp Med Biol. 2003;532:39-49. Review.

Esteller M.
Relevance of DNA methylation in the management of cancer.
Lancet Oncol. 2003 Jun;4(6):351-8. Review

Esteller M.
CpG island hypermethylation and tumor suppressor genes: a booming present, a brighter future.
Oncogene. 2002 Aug 12;21(35):5427-40. Review.

Ballestar E, Esteller M.
The impact of chromatin in human cancer: linking DNA methylation to gene silencing.
Carcinogenesis. 2002 Jul;23(7):1103-9. Review.

Esteller M.
The coming of age of DNA methylation in medicine in the genomics and postgenomics era.
Clin Immunol. 2002 Jun;103(3 Pt 1):213-6. No abstract available.

Esteller M, Herman JG.
Cancer as an epigenetic disease: DNA methylation and chromatin alterations in human tumours.
J Pathol. 2002 Jan;196(1):1-7. Review.

Therapy and Epigenetics

Villar-Garea A, Esteller M.
Histone deacetylase inhibitors: Understanding a new wave of anticancer agents.
Int J Cancer. 2004 Nov 1;112(2):171-8.

Nieto M, Samper E, Fraga MF, Gonzalez de Buitrago G, Esteller M, Serrano M.
The absence of p53 is critical for the induction of apoptosis by 5-aza-2'-deoxycytidine.
Oncogene. 2004 Jan 22;23(3):735-43.

Villar-Garea A, Fraga MF, Espada J, Esteller M.
Procaine is a DNA-demethylating agent with growth-inhibitory effects in human cancer cells.
Cancer Res. 2003 Aug 15;63(16):4984-9.

Villar-Garea A, Esteller M.
DNA demethylating agents and chromatin-remodelling drugs: which, how and why?
Curr Drug Metab. 2003 Feb;4(1):11-31. Review.

Newly Hypermethylated Genes in Cancer

Douglas DB, Akiyama Y, Carraway H, Belinsky SA, Esteller M, Gabrielson E,
Weitzman S, Williams T, Herman JG, Baylin SB.
Hypermethylation of a small CpGuanine-rich region correlates with loss of activator protein-2alpha expression during progression of breast cancer.
Cancer Res. 2004 Mar 1;64(5):1611-20.

Akiyama Y, Watkins N, Suzuki H, Jair KW, van Engeland M, Esteller M, Sakai
H, Ren CY, Yuasa Y, Herman JG, Baylin SB.
GATA-4 and GATA-5 transcription factor genes and potential downstream antitumor target genes are epigenetically silenced in colorectal and gastric cancer.
Mol Cell Biol. 2003 Dec;23(23):8429-39.

Palmisano WA, Crume KP, Grimes MJ, Winters SA, Toyota M, Esteller M, Joste
N, Baylin SB, Belinsky SA.
Aberrant promoter methylation of the transcription factor genes PAX5 alpha and beta in human cancers.
Cancer Res. 2003 Aug 1;63(15):4620-5.

Galm O, Yoshikawa H, Esteller M, Osieka R, Herman JG.
SOCS-1, a negative regulator of cytokine signaling, is frequently silenced by methylation in multiple myeloma.
Blood. 2003 Apr 1;101(7):2784-8. Epub 2002 Nov 27.

Chen WY, Zeng X, Carter MG, Morrell CN, Chiu Yen RW, Esteller M, Watkins
DN, Herman JG, Mankowski JL, Baylin SB.
Heterozygous disruption of Hic1 predisposes mice to a gender-dependent spectrum of malignant tumors.
Nat Genet. 2003 Feb;33(2):197-202. Epub 2003 Jan 21.

Esteller M, Guo M, Moreno V, Peinado MA, Capella G, Galm O, Baylin SB,
Herman JG.
Hypermethylation-associated Inactivation of the Cellular
Retinol-Binding-Protein 1 Gene in Human Cancer.
Cancer Res. 2002 Oct 15;62(20):5902-5.

Sanchez-Cespedes M, Parrella P, Esteller M, Nomoto S, Trink B, Engles JM,
Westra WH, Herman JG, Sidransky D.
Inactivation of LKB1/STK11 is a common event in adenocarcinomas of the lung.
Cancer Res. 2002 Jul 1;62(13):3659-62.

Profiling Hypermethylation of Tumor Supressor Genes in Cancer

Lind GE, Thorstensen L, Lovig T, Meling GI, Hamelin R, Rognum TO, Esteller M, Lothe RA.
A CpG island hypermethylation profile of primary colorectal carcinomas and colon cancer cell lines.
Mol Cancer. 2004 Oct 11;3(1):28

Alaminos M, Davalos V, Cheung NK, Gerald WL, Esteller M.
Clustering of gene hypermethylation associated with clinical risk groups in neuroblastoma.
J Natl Cancer Inst. 2004 Aug 18;96(16):1208-19.

Fraga MF, Herranz M, Espada J, Ballestar E, Paz MF, Ropero S, Erkek E,
Bozdogan O, Peinado H, Niveleau A, Mao JH, Balmain A, Cano A, Esteller M.
A mouse skin multistage carcinogenesis model reflects the aberrant DNA methylation patterns of human tumors.
Cancer Res. 2004 Aug 15;64(16):5527-34.

Blanco D, Vicent S, Elizegi E, Pino I, Fraga MF, Esteller M, Saffiotti U,
Lecanda F, Montuenga LM.
Altered expression of adhesion molecules and epithelial-mesenchymal transition in silica-induced rat lung carcinogenesis.
Lab Invest. 2004 Aug;84(8):999-1012.

Fernandez P, Carretero J, Medina PP, Jimenez AI, Rodriguez-Perales S, Paz
MF, Cigudosa JC, Esteller M, Lombardia L, Morente M, Sanchez-Verde L, Sotelo T,
Sanchez-Cespedes M.
Distinctive gene expression of human lung adenocarcinomas carrying LKB1 mutations.
Oncogene. 2004 Jun 24;23(29):5084-91.

Cascon A, Ruiz-Llorente S, Fraga MF, Leton R, Telleria D, Sastre J, Diez
JJ, Martinez Diaz-Guerra G, Diaz Perez JA, Benitez J, Esteller M, Robledo M.
Genetic and epigenetic profile of sporadic pheochromocytomas.
J Med Genet. 2004 Mar;41(3):e30. No abstract available.

Rossi D, Capello D, Gloghini A, Franceschetti S, Paulli M, Bhatia K, Saglio
G, Vitolo U, Pileri SA, Esteller M, Carbone A, Gaidano G.
Aberrant promoter methylation of multiple genes throughout the clinico-pathologic spectrum of B-cell neoplasia.
Haematologica. 2004 Feb;89(2):154-64.

Tarafa G, Prat E, Risques RA, Gonzalez S, Camps J, Grau M, Guino E, Moreno
V, Esteller M, Herman JG, Germa JR, Miro R, Peinado MA, Capella G.
Common genetic evolutionary pathways in familial adenomatous polyposis tumors.
Cancer Res. 2003 Sep 15;63(18):5731-7.

Sarrio D, Moreno-Bueno G, Hardisson D, Sanchez-Estevez C, Guo M, Herman JG,
Gamallo C, Esteller M, Palacios J.
Epigenetic and genetic alterations of APC and CDH1 genes in lobular breast cancer: relationships with abnormal E-cadherin and catenin expression and microsatellite instability.
Int J Cancer. 2003 Aug 20;106(2):208-15.

Holst CR, Nuovo GJ, Esteller M, Chew K, Baylin SB, Herman JG, Tlsty TD.
Methylation of p16(INK4a) promoters occurs in vivo in histologically normal human mammary epithelia.
Cancer Res. 2003 Apr 1;63(7):1596-601.

Moreno-Bueno G, Hardisson D, Sarrio D, Sanchez C, Cassia R, Prat J, Herman
JG, Esteller M, Matias-Guiu X, Palacios J.
Abnormalities of E- and P-cadherin and catenin (beta-, gamma-catenin, and p120ctn) expression in endometrial cancer and endometrial atypical hyperplasia.
J Pathol. 2003 Apr;199(4):471-8.

Hernandez-Boluda JC, Cervantes F, Colomer D, Vela MC, Costa D, Paz MF,
Esteller M, Montserrat E.
Genomic p16 abnormalities in the progression of chronic myeloid leukemia into blast crisis: a sequential study in 42 patients.
Exp Hematol. 2003 Mar;31(3):204-10.

Paz MF, Fraga MF, Avila S, Guo M, Pollan M, Herman JG, Esteller M.
A systematic profile of DNA methylation in human cancer cell lines.
Cancer Res. 2003 Mar 1;63(5):1114-21.

Tort F, Hernandez S, Bea S, Martinez A, Esteller M, Herman JG, Puig X,
Camacho E, Sanchez M, Nayach I, Lopez-Guillermo A, Fernandez PL, Colomer D,
Hernandez L, Campo E.
CHK2-decreased protein expression and infrequent genetic alterations mainly occur in aggressive types of non-Hodgkin lymphomas.
Blood. 2002 Dec 15;100(13):4602-8. Epub 2002 Aug 01.

Lerma E, Esteller M, Herman JG, Prat J.
Alterations of the p16/Rb/cyclin-D1 pathway in vulvar carcinoma, vulvar intraepithelial neoplasia, and lichen sclerosus.
Hum Pathol. 2002 Nov;33(11):1120-5.

Moreno-Bueno G, Hardisson D, Sanchez C, Sarrio D, Cassia R, Garcia-Rostan
G, Prat J, Guo M, Herman JG, Matias-Guiu X, Esteller M, Palacios J.
Abnormalities of the APC/beta-catenin pathway in endometrial cancer.
Oncogene. 2002 Nov 14;21(52):7981-90.

Esteller M, Fraga MF, Paz MF, Campo E, Colomer D, Novo FJ, Calasanz MJ,
Galm O, Guo M, Benitez J, Herman JG.
Cancer epigenetics and methylation.
Science. 2002 Sep 13;297(5588):1807-8; discussion 1807-8. No abstract available.

Osorio A, de la Hoya M, Rodriguez-Lopez R, Martinez-Ramirez A, Cazorla A,
Granizo JJ, Esteller M, Rivas C, Caldes T, Benitez J.
Loss of heterozygosity analysis at the BRCA loci in tumor samples from patients with familial breast cancer.
Int J Cancer. 2002 May 10;99(2):305-9.

Laiho P, Launonen V, Lahermo P, Esteller M, Guo M, Herman JG, Mecklin JP,
Jarvinen H, Sistonen P, Kim KM, Shibata D, Houlston RS, Aaltonen LA.
Low-level microsatellite instability in most colorectal carcinomas.
Cancer Res. 2002 Feb 15;62(4):1166-70.

Esteller M, Fraga MF, Guo M, Garcia-Foncillas J, Hedenfalk I, Godwin AK,
Trojan J, Vaurs-Barriere C, Bignon YJ, Ramus S, Benitez J, Caldes T, Akiyama Y,
Yuasa Y, Launonen V, Canal MJ, Rodriguez R, Capella G, Peinado MA, Borg A,
Aaltonen LA, Ponder BA, Baylin SB, Herman JG.
DNA methylation patterns in hereditary human cancers mimic sporadic tumorigenesis.
Hum Mol Genet. 2001 Dec 15;10(26):3001-7.

Sanchez-Cespedes M, Parrella P, Nomoto S, Cohen D, Xiao Y, Esteller M,
Jeronimo C, Jordan RC, Nicol T, Koch WM, Schoenberg M, Mazzarelli P, Fazio VM,
Sidransky D.
Identification of a mononucleotide repeat as a major target for mitochondrial DNA alterations in human tumors.
Cancer Res. 2001 Oct 1;61(19):7015-9.

Caballero OL, Cohen D, Liu Q, Esteller M, Bonacum J, White P, Engles J,
Yochem R, Herman JG, Westra WH, Lengauer C, Sidransky D, Jen J.
Loss of chromosome arms 3p and 9p and inactivation of P16 (INK4a) in normal epithelium of patients with primary lung cancer.
Genes Chromosomes Cancer. 2001 Oct;32(2):119-25.

Esteller M, Corn PG, Baylin SB, Herman JG.
A gene hypermethylation profile of human cancer.
Cancer Res. 2001 Apr 15;61(8):3225-9.

Clinical Use of Epigenetic Markers

de Caceres II, Battagli C, Esteller M, Herman JG, Dulaimi E, Edelson MI, Bergman C, Ehya H, Eisenberg BL, Cairns P.
Tumor cell-specific BRCA1 and RASSF1A hypermethylation in serum, plasma, and peritoneal fluid from ovarian cancer patients.
Cancer Res. 2004 Sep 15;64(18):6476-81.

Paz MF, Yaya-Tur R, Rojas-Marcos I, Reynes G, Pollan M, Aguirre-Cruz L,
Garcia-Lopez JL, Piquer J, Safont MJ, Balana C, Sanchez-Cespedes M,
Garcia-Villanueva M, Arribas L, Esteller M.
CpG island hypermethylation of the DNA repair enzyme methyltransferase predicts response to temozolomide in primary gliomas.
Clin Cancer Res. 2004 Aug 1;10(15):4933-8.

Pellise M, Castells A, Gines A, Agrelo R, Sole M, Castellvi-Bel S,
Fernandez-Esparrach G, Llach J, Esteller M, Bordas JM, Pique JM.
Detection of lymph node micrometastases by gene promoter hypermethylation in samples obtained by endosonography- guided fine-needle aspiration biopsy.
Clin Cancer Res. 2004 Jul 1;10(13):4444-9.

Esteller M, Gaidano G, Goodman SN, Zagonel V, Capello D, Botto B, Rossi D,
Gloghini A, Vitolo U, Carbone A, Baylin SB, Herman JG.
Hypermethylation of the DNA repair gene O(6)-methylguanine DNA methyltransferase and survival of patients with diffuse large B-cell lymphoma.
J Natl Cancer Inst. 2002 Jan 2;94(1):26-32.

Cairns P, Esteller M, Herman JG, Schoenberg M, Jeronimo C, Sanchez-Cespedes
M, Chow NH, Grasso M, Wu L, Westra WB, Sidransky D.
Molecular detection of prostate cancer in urine by GSTP1 hypermethylation.
Clin Cancer Res. 2001 Sep;7(9):2727-30.

Methodology for the Epigenetics World

Matarazzo MR, Lembo F, Angrisano T, Ballestar E, Ferraro M, Pero R, De Bonis ML, Bruni CB, Esteller M, D'Esposito M, Chiariotti L.
In vivo analysis of DNA methylation patterns recognized by specific proteins: coupling CHIP and bisulfite analysis.
Biotechniques. 2004 Oct;37(4):666-8, 670, 672-3.

Musulen E, Moreno V, Reyes G, Sancho FJ, Peinado MA, Esteller M, Herman JG,
Combalia N, Rey M, Capella G.
Standardized approach for microsatellite instability detection in gastric carcinomas.
Hum Pathol. 2004 Mar;35(3):335-42.

Fraga MF, Ballestar E, Esteller M.
Capillary electrophoresis-based method to quantitate DNA-protein interactions.
J Chromatogr B Analyt Technol Biomed Life Sci. 2003 Jun 15;789(2):431-5.

Fraga MF, Esteller M.
DNA methylation: a profile of methods and applications.
Biotechniques. 2002 Sep;33(3):632, 634, 636-49. Review.

Fraga MF, Uriol E, Borja Diego L, Berdasco M, Esteller M, Canal MJ,
Rodriguez R.
High-performance capillary electrophoretic method for the quantification of 5-methyl 2'-deoxycytidine in genomic DNA: application to plant, animal and human
cancer tissues.
Electrophoresis. 2002 Jun;23(11):1677-81.

Cardiovascular Disease and Epigenetics

Lund G, Andersson L, Lauria M, Lindholm M, Fraga MF, Villar-Garea A,
Ballestar E, Esteller M, Zaina S.
DNA methylation polymorphisms precede any histological sign of atherosclerosis in mice lacking apolipoprotein E.
J Biol Chem. 2004 Jul 9;279(28):29147-54. Epub 2004 May 06.