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The hTERT-VNTR2-2nd alleles are involved in genomic stability in gastrointestinal cancer.

Authors
  • Kwon, Jeong-Ah1, 2
  • Jeong, Mi-So1
  • Yoon, Se-Lyun1
  • Mun, Jeong-Yeon1
  • Kim, Min-Hye1
  • Yang, Gi-Eun1
  • Park, Seong-Hwan1
  • Chung, Jin-Woong1
  • Choi, Yung Hyun3
  • Cha, Hee-Jae4
  • Leem, Sun-Hee5
  • 1 Department of Biology and Biomedical Science, Dong-A University, Busan, 49315, Korea. , (North Korea)
  • 2 DNA Analysis Section, Forensic Medicine Division, Busan Institute, National Forensic Service, Yangsan, 50612, Korea. , (North Korea)
  • 3 Department of Biochemistry, Dong-eui University College of Korean Medicine, Busan, 47227, Korea. , (North Korea)
  • 4 Department of Parasitology and Genetics, Kosin University College of Medicine, Busan, 49267, Korea. , (North Korea)
  • 5 Department of Biology and Biomedical Science, Dong-A University, Busan, 49315, Korea. [email protected] , (North Korea)
Type
Published Article
Journal
Genes & genomics
Publication Date
Dec 01, 2019
Volume
41
Issue
12
Pages
1517–1525
Identifiers
DOI: 10.1007/s13258-019-00882-y
PMID: 31691174
Source
Medline
Keywords
Language
English
License
Unknown

Abstract

hTERT contains a high density of minisatellites, of which rare alleles of hTERT-VNTR2-2nd have been reported to be associated with prostate cancer. This shows an association between VNTR and cancer, but this repeat sequence is likely to be associated with genomic instability. Therefore, we investigated the effects of hTERT-VNTR2-2nd on gastrointestinal cancer and the relationship between repeated sequence and chromosome instability. A case-control study was performed using DNA from 818 cancer-free controls, 539 cases with gastric cancer, 275 cases with colon cancer and 274 cases with rectal cancer. To determine whether minisatellites affect gene expression, expression levels were examined using TERT-reporter vectors in cell lines. In addition, the length of the hTERT-VNTR2-2nd alleles were determined in blood and cancer tissues from 107 gastric cancers, 112 colon cancers and 76 rectal cancers patients to determine whether the repeat sequence was associated with genomic instability during cancer development. No statistically significant association between hTERT-VNTR2-2nd and risk of gastrointestinal cancer was detected. However, it has been shown that VNTRs inserted into the enhancer region can regulate the expression of TERT in gastrointestinal cancer cells. Moreover, hTERT-VNTR2-2nd was analyzed in matched blood and cancer tissue from patients with gastrointestinal cancer and in seven among 294 subjects, and hTERT-VNTR2-2nd was found to be rearranged. We suggest that minisatellites are associated with genomic instability in cancer and that the hTERT-VNTRs region may increase hTERT expression in gastrointestinal cancer cells.

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