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    Bioinformatics evaluation of MSH2 gene in the incidence of colorectal cancer in patients with HNPCC

  • Najmeh Tavoosi,1 Niloofar Erfan,2 Seyed Hossein Rahimi,3 Pegah Javid,4 Mansoureh Azadeh,5,*
    1. Zist Fanavari Novin Biotechnology Department, Provincial Technical and vocational Training Organization
    2. Zist Fanavari Novin Biotechnology Department, Provincial Technical and vocational Training Organization
    3. Zist Fanavari Novin Biotechnology Department, Provincial Technical and vocational Training Organization
    4. Zist Fanavari Novin Biotechnology Department, Provincial Technical and vocational Training Organization
    5. Zist Fanavari Novin Biotechnology Department, Provincial Technical and vocational Training Organization


  • Introduction: Hereditary Nonpolyposis Polyposis colorectal cancer (Lynch syndrome/HNPCC) is one of the most common syndromes that predisposes colorectal cancer. The inheritance method of this syndrome is autosomal dominant. Studies have shown that lynch syndrome can be associated with colorectal cancer and tumors that originate outside the colon, including endometrial cancer. The aim of this study was to find the association between MSH2 gene and colorectal cancer through bioinformatics study
  • Methods: For this purpose, the miRNAs and SNPs involved with MSH2 gene were studied in the miRdSNP database. The GeneCards database was used for evaluation of drug targets. The Interactions between proteins were identified in the STRING database. The GEPIA2 database was analyzed to investigate the expression of MSH2 gene in colorectal cancer
  • Results: Based on the findings of GEPIA2, the MSH2 gene is highly expressed in colon cancer. The hsa-miR-21 can downregulate the expression of MSH2. The hsa-mir-137 can play a role in controlling the expression of the MSH2 gene through UTR'3, and any disturbance in this regulatory process can cause tumors in the colon. The STRING database showed that MSH6 and MLH1 have the most interaction with MSH2. All three of which are involved in the development of HNPCC syndrome. The mutations in the MSH2 gene in Lynch syndrome increase the incidence of colorectal cancer and aspirin can be a potential drug in CRC
  • Conclusion: Various studies have shown that mutations in four mismatch repair genes (MMR) such as (MSH2, MSH6, MLH1, PMS2) whose functions are lost during the mutation are involved in colorectal cancer in Lynch syndrome. The miRNA associated with gene can also be used for drugs that are effective in preventing colorectal cancer in HNPC. The identification of this gene is very important in identifying individuals at risk, especially those who have the Amsterdam criteria and this feature can be considered for medicinal purposes.
  • Keywords: miRNA-21, Lynch syndrome/HNPCC, bioinformatics prediction