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Correspondence to Author: Faiza Aljhemi¹, Asma Alelish², Fatma Emaetig³, Mukthar Agoob⁴, Omar Alqawi^5*. 

1Department of Life Sciences, The Libyan Academy, Misurata;
2Department of Genetics and Biotechnology, Faculty of Science, Misurata University;
3Department of Pathology, Faculty of Medicine, Misurata University;
4Agricultural Research Centre, Misurata,
5Genetic Engineering Centre, Misurata, National Cancer Institute, Misurata, Libya(corresponding author)

Abstract:

One of the cancer types that has seen a rise in occurrence in recent years is colorectal cancer. In the world, it is the second most prevalent cancer in women and the third most common in males. Even if the diagnosis and prevalence are increasing, there is still a low 5-year survival rate. A series of mutations that either activate oncogenes or inactivate tumor suppressor genes cause colorectal cancer. It is generally understood that mutations in the APC, KRAS, and P53 genes lead colorectal cancer to progress. The most often seen genetic changes in colorectal cancer are mutations in the p53 gene, which are thought to be present in 40–70% of colorectal cancer cases. Mutations in p53 leading to colorectal cancer commonly occur in exons 5 to 8 and mainly in some hot spot codons such as 175, 245, 248 and 282, which code for the amino acids that are extremely important for its DNA binding activity. In this study, we have examined 40 tissues from Libyan colorectal cancer patients admitted to the National Cancer Institute-Misurata for mutations in the p53 gene at exons 5 to 8 using PCRdirect sequencing. We found 75 mutations in 20 cases (50%) and TP53 protein accumulation in 22 cases (55%). The mutation distribution in the exons subjected to analysis was as follows: exon 5 (10.9%), exon 6 (13.3%), exon 7 (54.6%), exon 8 (8%), intron 7 (8%), and splice junction (5.5%). Most of the p53 mutations were substitutions (76.9%) and frameshifts (23.1%). Four mutations were ascribed to hot spot regions: codon 245 and codon 248. Rectal and proximal colorectal cancers were less likely to be mutated than distal colorectal cancers. Overall, our findings supported the reported p53 mutations in colorectal cancer in terms of incidence, type, and associations with TP53 accumulation.

Citation:

Omar Alqawi, The Frequency of p53 Mutations in Colorectal Cancer Patients. Journal of Cancer and Tumor Research 2025.