title: Epigenome-wide analysis of DNA methylation reveals a rectal cancer-specific epigenomic signature.
abstract: The aim of the present study is to address a genome-wide search for novel methylation biomarkers in the rectal cancer (RC), as only scarce information on methylation profile is available.
  
  
  
  We analyzed methylation status in 25 pairs of RC and adjacent healthy mucosa using the Illumina Human Methylation 450 BeadChip.
  
  
  
  We found significantly aberrant methylation in 33 genes. After validation of our results by pyrosequencing, we found a good agreement with our findings. The BPIL3 and HBBP1 genes resulted hypomethylated in RC, whereas TIFPI2, ADHFE1, FLI1 and TLX1 were hypermethylated. An external validation by TCGA datasets confirmed the results.
  
  
  
  Our study, with external validation, has demonstrated the feasibility of using specific methylated DNA signatures for developing biomarkers in RC.
authors.affiliation: Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic.|Institute of Biology & Medical Genetics, 1st Medical Faculty, Charles University, Prague, Czech Republic.
authors.forename: Veronika
authors.initials: V
authors.lastname: Vymetalkova
authors.affiliation: Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic.|Institute of Biology & Medical Genetics, 1st Medical Faculty, Charles University, Prague, Czech Republic.|Biomedical Centre, Faculty of Medicine in Pilsen, Charles University, Czech Republic.
authors.forename: Pavel
authors.initials: P
authors.lastname: Vodicka
authors.affiliation: Human Genetics Foundation, (HuGeF), Torino, Italy.
authors.forename: Barbara
authors.initials: B
authors.lastname: Pardini
authors.affiliation: Human Genetics Foundation, (HuGeF), Torino, Italy.
authors.forename: Fabio
authors.initials: F
authors.lastname: Rosa
authors.affiliation: Department of Surgery, 1st Faculty of Medicine, Charles University & Thomayer Hospital, Prague, Czech Republic.
authors.forename: Miroslav
authors.initials: M
authors.lastname: Levy
authors.affiliation: Department of Surgery, General University Hospital, Prague, Czech Republic.
authors.forename: Michaela
authors.initials: M
authors.lastname: Schneiderova
authors.affiliation: Biomedical Centre, Faculty of Medicine in Pilsen, Charles University, Czech Republic.|Department of Surgery, Teaching Hospital & Medical School in Pilsen, Charles University, Pilsen, Czech Republic.
authors.forename: Vaclav
authors.initials: V
authors.lastname: Liska
authors.affiliation: Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic.|Institute of Biology & Medical Genetics, 1st Medical Faculty, Charles University, Prague, Czech Republic.|Biomedical Centre, Faculty of Medicine in Pilsen, Charles University, Czech Republic.
authors.forename: Ludmila
authors.initials: L
authors.lastname: Vodickova
authors.forename: Torbjörn K
authors.initials: TK
authors.lastname: Nilsson
authors.affiliation: Department of Laboratory Medicine, Örebro University; Örebro, Sweden.
authors.forename: Sanja A
authors.initials: SA
authors.lastname: Farkas
mesh_terms: D000429:Alcohol Oxidoreductases / Q000235:genetics; D014408:Biomarkers, Tumor / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D007413:Intestinal Mucosa / Q000378:metabolism; D024101:Mitochondrial Proteins / Q000235:genetics; D051789:Proto-Oncogene Protein c-fli-1 / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D012004:Rectal Neoplasms / Q000235:genetics*
chemical_list: C466098:BPIFB6 protein, human; D014408:Biomarkers, Tumor; D002352:Carrier Proteins; C078433:FLI1 protein, human; D018398:Homeodomain Proteins; D024101:Mitochondrial Proteins; D051789:Proto-Oncogene Protein c-fli-1; D011518:Proto-Oncogene Proteins; C071250:TLX1 protein, human; D000429:Alcohol Oxidoreductases; C072878:hydroxyacid-oxoacid transhydrogenase
keywords: DNA methylation; Illumina Human Methylation 450 BeadChip; rectal cancer