Veronika Vymetalkova1,2, Pavel Vodicka1,2,3, Barbara Pardini4, Fabio Rosa4, Miroslav Levy5, Michaela Schneiderova6, Vaclav Liska3,7, Ludmila Vodickova1,2,3, Torbjörn K Nilsson, Sanja A Farkas8. 1. Institute of Experimental Medicine, Academy of Sciences of the Czech Republic, Prague, Czech Republic. 2. Institute of Biology & Medical Genetics, 1st Medical Faculty, Charles University, Prague, Czech Republic. 3. Biomedical Centre, Faculty of Medicine in Pilsen, Charles University, Czech Republic. 4. Human Genetics Foundation, (HuGeF), Torino, Italy. 5. Department of Surgery, 1st Faculty of Medicine, Charles University & Thomayer Hospital, Prague, Czech Republic. 6. Department of Surgery, General University Hospital, Prague, Czech Republic. 7. Department of Surgery, Teaching Hospital & Medical School in Pilsen, Charles University, Pilsen, Czech Republic. 8. Department of Laboratory Medicine, Örebro University; Örebro, Sweden.
Abstract
AIM: 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. MATERIALS & METHODS: We analyzed methylation status in 25 pairs of RC and adjacent healthy mucosa using the Illumina Human Methylation 450 BeadChip. RESULTS: 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. CONCLUSION: Our study, with external validation, has demonstrated the feasibility of using specific methylated DNA signatures for developing biomarkers in RC.
AIM: 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. MATERIALS & METHODS: We analyzed methylation status in 25 pairs of RC and adjacent healthy mucosa using the Illumina Human Methylation 450 BeadChip. RESULTS: 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. CONCLUSION: Our study, with external validation, has demonstrated the feasibility of using specific methylated DNA signatures for developing biomarkers in RC.
Entities:
Keywords:
DNA methylation; Illumina Human Methylation 450 BeadChip; rectal cancer