Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer Authors Tehmina Serwer Department of Biochemistry, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan Mohsin Wahid Department of Pathology, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan Fauzia Imtiaz Department of Biochemistry, Dow Medical College, Dow University of Health Sciences, Karachi, Pakistan Amjad Siraj Memon Department of Surgery, Jinnah Sindh Medical University, Karachi, Pakistan DOI: https://doi.org/10.47391/JPMA.9158 Keywords: Colorectal cancer, Single nucleotide polymorphism, DCC gene, Codon 201 mutation Abstract Objective: To identify the mutation in codon 201 of the deleted in colorectal cancer gene in colorectal cancer, and to correlate that mutation to the histopathological grading of colorectal cancer. Method: The cross-sectional study was conducted from February 2019 to February 2021 after approval from the ethics review board of the Dow University of Health Sciences, Karachi, and comprised biopsy-proven colorectal cancer patients regardless of age and gender. After histopathological reporting, formalin-fixed paraffin-embedded tissue blocks of colorectal cancer were used for deoxyribonucleic acid extraction, followed by polymerase chain reaction optimisation and deoxyribonucleic acid Sanger sequencing for mutational analysis. Data was analysed using SPSS 25. Results: Of the 100 biopsy specimens assessed, 45(45%) were selected. Of them, 13(29%) samples failed to show any band on gel electrophoresis. The remaining 32(71%) samples were used for Sanger sequencing. Of these, 1(3%) sample did not sequence, while 31(97%) showed sequencing. All the sequenced samples identified a mutation in codon 201 of exon 3 in the deleted in colorectal cancer gene; 30(97%) showed homozygosity, and 1(3%) showed heterozygosity. No significant association of point mutation was noted with various demographic and clinicopathological parameters (p>0.05). Conclusion: The deleted in colorectal cancer gene's missense mutation in codon 201 was frequently observed in colorectal cancer patients. Key Words: Colorectal cancer, Single nucleotide polymorphism, DCC gene, Codon 201 mutation. Downloads Full Text Article Published 2024-01-20 How to Cite Serwer, T., Mohsin Wahid, Imtiaz, F., & Memon, A. S. (2024). Identification of specific codon 201 mutation of the DCC Gene in the colonoscopic specimen of colorectal cancer. Journal of the Pakistan Medical Association, 74(2), 287–293. https://doi.org/10.47391/JPMA.9158 More Citation Formats ACM ACS APA ABNT Chicago Harvard IEEE MLA Turabian Vancouver Download Citation Endnote/Zotero/Mendeley (RIS) BibTeX Issue Vol. 74 No. 2 (2024): FEBRUARY Section RESEARCH ARTICLE License Copyright (c) 2024 Journal of the Pakistan Medical Association This work is licensed under a Creative Commons Attribution 4.0 International License.