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The Frequency of Nras Mutation in Stool Samples of Iranian Colorectal Cancers Compared to Finnish Patients Publisher



Saberi F1 ; Youssef O2, 3, 4 ; Kokkola A5 ; Khodadoostan M6 ; Puolakkainen P5 ; Salehi R1, 7 ; Knuutila S2
Authors
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Authors Affiliations
  1. 1. Department of Genetics and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
  2. 2. Department of Pathology, University of Helsinki, Helsinki, Finland
  3. 3. Department of Clinical and Chemical Pathology, National Cancer Institute, Cairo University, Cairo, Egypt
  4. 4. Research Program in Systems Oncology, Faculty of Medicine, University of Helsinki, Finland
  5. 5. The HUCH Gastrointestinal Clinic, University Central Hospital of Helsinki, Helsinki, Finland
  6. 6. Department of Gastroenterology and Hepatology, Alzahra Hospital, Isfahan University of Medical Sciences, Isfahan, Iran
  7. 7. Pediatric Inherited Diseases Research Center, Research Institute for Primordial Prevention of Noncommunicable Diseases, Isfahan University of Medical Sciences, Isfahan, Iran

Source: Journal of Research in Medical Sciences Published:2024


Abstract

Background: Stools from colorectal cancer patients are noninvasive samples that could be used to compare the frequency of hotspot mutations between two different ethnic cohorts. Materials and Methods: We collected stool samples from the Iranian cohort (52 patients and 49 controls) and the Finnish cohort (40 patients and 14 controls). Following stool DNA extraction, we used the AmpliSeq Colon and Lung Cancer panel to prepare DNA libraries before sequencing. Results: The Iranian cohort exhibited 35 hotspot mutations in the BRAF, ERBB4, FBXW7, FGFR1, FGFR3, KRAS, MAP2K, MET, NRAS, PIK3C, SMAD4, and TP53 genes. In the Finnish cohort, 13 hotspot mutations were found in the AKT1, APC, KIT, KRAS, SMO, STK11, and TP53 genes. Mutations in NRAS and FGFR3 were observed only in the Iranian cohort, while APC mutations were exclusive for the Finnish cohort. Conclusion: Genes involved in MAPK and PI3K‑MAPK pathways showed a higher frequency of mutations in Iranian patients which may have therapeutic implications. © 2024 Journal of Research in Medical Sciences | Published by Wolters Kluwer - Medknow.
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