p53 mutations detected in colorectal carcinoma patients in Hong Kong

Abstract

A mutational spectrum for exons 5-8 of the p53 tumor suppressor gene in colorectal carcinomas in Hong Kong Chinese was established. Ninety-nine colorectal carcinomas from Hong Kong patients were analyzed for mutations in p53 gene by PCR-single-strand conformation polymorphism analysis and direct DNA sequencing. Thirty-five of the 99 tumors (35.4%) contained mutations. Point mutations accounted for 80% of all genetic changes and were predominantly base transitions at CpG dinucleotide sites, mutations that were also predominant in Caucasian carcinomas. The major hot spots at codons 175 and 248 of p53 in Caucasians are also hot spots in the Chinese gene. Identical mutations in codons 152 and 306 were detected in two independent tumors in the Chinese, which were reported only rarely in Caucasians. Moreover, a significantly higher frequency (20%) of deletion and insertion mutations was observed in Hong Kong colorectal cancer patients. Distinct genetic and/or environmental factors may contribute to these findings.