Mutations in the Ki-ras Gene Detected in
Colorectal Biopsy Specimens
Beránek M.1, Bureš J.2, Rejchrt S.2, Dědič K.3, Palička V.1
1Institute of Clinical Biochemistry and Diagnostics, Charles University Hospital, Hradec Králové 2Clinical Centre of Internal Medicine, Charles University Hospital, Hradec Králové 3Department of Pathology, Charles University Hospital, Hradec Králové |
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Summary:
Objective: Somatic mutations in the Ki-ras gene are believed to be an important pathogenetic event occurring
approximately in the middle of the neoplastic cascade in the colon. These genetic changes have been observed
in about 40%of resected colorectal carcinomas and in 20–60%of benign colon adenomas. In this studywe analyzed
the presence of Ki-ras gene mutations in bioptic specimens of colorectal tumours and polyps.
Material and Methods: We investigated 61 specimens (1–2 mm in diameter) taken from sporadic colorectal
carcinomas (N=18), adenomatous polyps (N=19), hyperplastic polyps (N=13), and normal large bowel mucosa
(N=11). Detection of mutations in codons 12 and 13 of the Ki-ras gene was performed by a PCR/RFLP method
followed by confirmatory sequencing.
Results: Ki-ras mutations were found in 8 of 18 (44%) colorectal carcinomas and in 8 of 19 (42%) adenomatous
polyps. Mutations were detected neither in the hyperplastic polyps nor in normal large bowel tissue. A GGT to
GTT transversion in codon 12, the most frequently found genetic change, was identified in 50% of the Ki-ras
mutated carcinomas and 62% of mutated adenomas.
Conclusion: Taking into account aggressivity of some Ki-ras mutations, a proper DNA analysis could contribute
to improvement of laboratory diagnostics of cancer, especially in subjects at a higher risk for colorectal
carcinoma.
Key words:
Ki-ras gene, mutation, colorectal carcinoma, polyp, adenoma, PCR.
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