Detection of Mutations in Exons ۵, ۶, and ۷ of the TP۵۳ Gene in the Tumor Tissue and Stool Samples of Patients with Colorectal Cancer from Northwest Iran

Background: Colorectal cancer (CRC) is the third most prevalent cancer with approximately ۹,۰۰۰ annual deaths worldwide. However, early detection can provide a high survival rate. The fecal DNA, as a non-invasive method for detecting the genetic markers, such as the TP۵۳ gene, can be conducive to disease diagnosis. In this study, we aimed to investigate the presence of the TP۵۳ mutations in the stool samples and their relationship with somatic mutations in the tissue samples of CRC patients from northwestern Iran.Method: In the present cohort study, tumor and stool samples were obtained from ۶۴ CRC patients (mean age of ۶۰), who were undergoing surgery. Total genomic DNA was extracted from the tissue and stool samples, and TP۵۳ mutations were detected using the PCR-SSCP method, followed by direct sequencing. Differences between mutations were observed in the tumors, and the stools were examined using the McNemar method.Results: Of ۶۴ CRC patients, ۱۹ individuals (۳۰%) demonstrated ۲۷ point mutations in exons ۵-۷ of the TP۵۳ in the tumor samples. Furthermore, analysis of the stool specimens revealed that the ۲۲ mutations (۸۱.۵%) identified in the tumor specimens were also present in the stool of ۱۲ patients (P = ۰.۰۶۳).Conclusion: Based on the results, the DNA from the tissue could be replaced with fecal DNA in the mutation detections for CRC. Given the non-invasive nature of fecal sampling, it can be desirable and acceptable for patients in molecular screening tests as it increases the screening rates and improves timely CRC diagnosis.

کلیدواژه ها:

Colorectal cancer (CRC) ، TP۵۳ gene ، Mutation ، tumor ، Stool