title: K-ras and p53 mutations in hereditary non-polyposis colorectal cancers.
abstract: Genetic instability related to defective DNA mismatch repair genes may be involved in the pathogenesis of carcinoma in Hereditary Non-Polyposis Colorectal Cancer (HNPCC). To test that the targets of genetic instability could include critical transforming genes involved in colon tumor progression, we examined 23 colorectal carcinomas in patients with HNPCC in order to detect somatic mutations in K-ras and p53 genes. Using single strand conformation polymorphism followed by direct DNA sequencing, we detected 4 mutations in K-ras gene (17%) and 3 in p53 gene (13%) which change the amino acid sequence of the protein p53. This is significantly lower than in sporadic cancer. Our data suggest that colon cancer in HNPCC might partly involve a distinct pathogenetic mechanism that involves other genes than those altered in sporadic tumors.
authors.affiliation: University Institute of Pathology, Lausanne, Switzerland.
authors.forename: L
authors.initials: L
authors.lastname: Losi
authors.forename: M
authors.initials: M
authors.lastname: Ponz de Leon
authors.forename: J
authors.initials: J
authors.lastname: Jiricny
authors.forename: C
authors.initials: C
authors.lastname: Di Gregorio
authors.forename: P
authors.initials: P
authors.lastname: Benatti
authors.forename: A
authors.initials: A
authors.lastname: Percesepe
authors.forename: R
authors.initials: R
authors.lastname: Fante
authors.forename: L
authors.initials: L
authors.lastname: Roncucci
authors.forename: M
authors.initials: M
authors.lastname: Pedroni
authors.forename: J
authors.initials: J
authors.lastname: Benhattar
mesh_terms: D000328:Adult; D000368:Aged; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D017931:DNA Primers; D005260:Female; D016158:Genes, p53; D011905:Genes, ras; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009367:Neoplasm Staging; D018807:Polymorphism, Single-Stranded Conformational; D015996:Survival Rate; D016159:Tumor Suppressor Protein p53 / Q000096:biosynthesis
chemical_list: D017931:DNA Primers; D016159:Tumor Suppressor Protein p53