PMID- 31336886 OWN - NLM STAT- PubMed-not-MEDLINE LR - 20231104 IS - 2072-6694 (Print) IS - 2072-6694 (Electronic) IS - 2072-6694 (Linking) VI - 11 IP - 7 DP - 2019 Jul 12 TI - Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing. LID - 10.3390/cancers11070977 [doi] LID - 977 AB - Colorectal adenomas are precursor lesions of colorectal adenocarcinoma. The transition from adenoma to carcinoma in patients with colorectal cancer (CRC) has been associated with an accumulation of genetic aberrations. However, criteria that can screen adenoma progression to adenocarcinoma are still lacking. This present study is the first attempt to identify genetic aberrations, such as the somatic mutations, copy number variations (CNVs), and high-frequency mutated genes, found in Thai patients. In this study, we identified the genomic abnormality of two sample groups. In the first group, five cases matched normal-colorectal adenoma-colorectal adenocarcinoma. In the second group, six cases matched normal-colorectal adenomas. For both groups, whole-exome sequencing was performed. We compared the genetic aberration of the two sample groups. In both normal tissues compared with colorectal adenoma and colorectal adenocarcinoma analyses, somatic mutations were observed in the tumor suppressor gene APC (Adenomatous polyposis coli) in eight out of ten patients. In the group of normal tissue comparison with colorectal adenoma tissue, somatic mutations were also detected in Catenin Beta 1 (CTNNB1), Family With Sequence Similarity 123B (FAM123B), F-Box And WD Repeat Domain Containing 7 (FBXW7), Sex-Determining Region Y-Box 9 (SOX9), Low-Density Lipoprotein Receptor-Related Protein 5 (LRP5), Frizzled Class Receptor 10 (FZD10), and AT-Rich Interaction Domain 1A (ARID1A) genes, which are involved in the Wingless-related integration site (Wnt) signaling pathway. In the normal tissue comparison with colorectal adenocarcinoma tissue, Kirsten retrovirus-associated DNA sequences (KRAS), Tumor Protein 53 (TP53), and Ataxia-Telangiectasia Mutated (ATM) genes are found in the receptor tyrosine kinase-RAS (RTK-RAS) signaling pathway and p53 signaling pathway, respectively. These results suggest that APC and TP53 may act as a potential screening marker for colorectal adenoma and early-stage CRC. This preliminary study may help identify patients with adenoma and early-stage CRC and may aid in establishing prevention and surveillance strategies to reduce the incidence of CRC. FAU - Intarajak, Thoranin AU - Intarajak T AD - Bioinformatics and Systems Biology Program, School of Bioresources and Technology and School of Information Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. AD - Bioinformatics Unit for Genomic Analysis, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. AD - Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. FAU - Udomchaiprasertkul, Wandee AU - Udomchaiprasertkul W AD - Molecular Biology and Genomic Laboratory, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Bunyoo, Chakrit AU - Bunyoo C AD - Bioinformatics Unit for Genomic Analysis, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Yimnoon, Jutamas AU - Yimnoon J AD - Cytogenetics Unit, Central Research Laboratory, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Soonklang, Kamonwan AU - Soonklang K AD - Data Management Unit, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Wiriyaukaradecha, Kriangpol AU - Wiriyaukaradecha K AD - Molecular Biology and Genomic Laboratory, Division of Research and International Relations, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Lamlertthon, Wisut AU - Lamlertthon W AD - Faculty of Medicine and Public Health, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Sricharunrat, Thaniya AU - Sricharunrat T AD - Pathology Laboratory Unit, Chulabhorn Hospital, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Chaiwiriyawong, Worawit AU - Chaiwiriyawong W AD - Department of Medical Oncology, Chulabhorn Hospital, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Siriphongpreeda, Bunchorn AU - Siriphongpreeda B AD - Faculty of Medicine and Public Health, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. FAU - Sutheeworapong, Sawannee AU - Sutheeworapong S AD - Bioinformatics and Systems Biology Program, School of Bioresources and Technology and School of Information Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. AD - Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. FAU - Kusonmano, Kanthida AU - Kusonmano K AD - Bioinformatics and Systems Biology Program, School of Bioresources and Technology and School of Information Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. AD - Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. AD - School of Bioresources and Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. FAU - Kittichotirat, Weerayuth AU - Kittichotirat W AUID- ORCID: 0000-0001-8397-633X AD - Bioinformatics and Systems Biology Program, School of Bioresources and Technology and School of Information Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. AD - Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. FAU - Thammarongtham, Chinae AU - Thammarongtham C AD - Biochemical Engineering and Systems Biology research group, National Center for Genetic Engineering and Biotechnology (BIOTEC) at King Mongkut's University of Technology Thonburi, Bangkhuntien, Bangkok 10150, Thailand. FAU - Jenjaroenpun, Piroon AU - Jenjaroenpun P AUID- ORCID: 0000-0002-1555-401X AD - Department of Biomedical Informatics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. FAU - Wongsurawat, Thidathip AU - Wongsurawat T AUID- ORCID: 0000-0002-3659-2074 AD - Department of Biomedical Informatics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. FAU - Nookaew, Intawat AU - Nookaew I AD - Department of Biomedical Informatics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. AD - Department of Biology and Biological Engineering, Chalmers University of Technology, SE-412 96 Gothenburg, Sweden. AD - Department of Physiology and Biophysics, College of Medicine, The University of Arkansas for Medical Sciences, Little Rock, AR 72205, USA. FAU - Auewarakul, Chirayu AU - Auewarakul C AD - Faculty of Medicine and Public Health, HRH Princess Chulabhorn College of Medical Science, Chulabhorn Royal Academy, Bangkok 10210, Thailand. chirayu.aue@cra.ac.th. FAU - Cheevadhanarak, Supapon AU - Cheevadhanarak S AD - Systems Biology and Bioinformatics Research Group, Pilot Plant Development and Training Institute, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. supapon.che@mail.kmutt.ac.th. AD - School of Bioresources and Technology, King Mongkut's University of Technology Thonburi, Bangkok 10150, Thailand. supapon.che@mail.kmutt.ac.th. LA - eng GR - P20 GM125503/GM/NIGMS NIH HHS/United States GR - 002.07.09/HRH princess Chulabhorn College/ PT - Journal Article DEP - 20190712 PL - Switzerland TA - Cancers (Basel) JT - Cancers JID - 101526829 PMC - PMC6679221 OTO - NOTNLM OT - colorectal adenoma OT - early-stage colorectal adenocarcinoma OT - screen marker OT - somatic mutation COIS- The authors declare no conflict of interest. EDAT- 2019/07/25 06:00 MHDA- 2019/07/25 06:01 PMCR- 2019/07/12 CRDT- 2019/07/25 06:00 PHST- 2019/05/01 00:00 [received] PHST- 2019/05/31 00:00 [revised] PHST- 2019/06/03 00:00 [accepted] PHST- 2019/07/25 06:00 [entrez] PHST- 2019/07/25 06:00 [pubmed] PHST- 2019/07/25 06:01 [medline] PHST- 2019/07/12 00:00 [pmc-release] AID - cancers11070977 [pii] AID - cancers-11-00977 [pii] AID - 10.3390/cancers11070977 [doi] PST - epublish SO - Cancers (Basel). 2019 Jul 12;11(7):977. doi: 10.3390/cancers11070977.