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Dig Liver Dis. 2000 Mar;32(2):131-6.

K-ras and p53 mutations in DNA extracted from colonic epithelial cells exfoliated in faeces of patients with colorectal cancer.

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Laboratory of Biochemistry, IRCCS Scientific Institute for Digestive Diseases, S. de Bellis Castellana G., BA, Italy.



Exfoliated colonic epithelial cells in faeces provide a source of human DNA which may be analysed for the presence of tumour-induced modification.


In the present study we investigated K-ras and p53 mutations in faeces of patients with colorectal carcinoma, to verify whether analysis of these mutations might identify a high percentage of patients with colorectal cancer.


Faeces, tumour and normal mucosa samples were taken from 26 patients. Polymerase chain reaction amplification and restriction enzyme analysis were performed to detect K-ras mutations; p53 gene mutations were identified by using polymerase chain reaction amplification and single strand conformation polymorphism.


We were able to amplify the K-ras gene and exons 5-9 of the p53 gene in 100% of the faecal samples studied. K-ras and p53 gene mutations were detected in faeces in 26.9% and 50% of the cases, respectively. The two mutations were present together in 5 out of 26 patients. There was full agreement between the K-ras and p53 pattern observed in faecal DNA and that in tumour tissue DNA.


Application of K-ras and p53 mutation gene analysis in the faeces may have clinical applications in the future. Since this genetic analysis is able to detect only 57.7% of patients with colorectal cancer, the study of other genes involved in colorectal carcinogenesis is necessary.

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