title: Sites and types of p53 mutations in an unselected series of colorectal cancers in The Netherlands.
abstract: An unselected series of colorectal adenocarcinomas together with their corresponding normal mucosa, derived from 24 Dutch patients, was investigated for the loss of a marker mapping close to the region of p53 on chromosome 17p and for mutations in exons 5, 6, 7 and 8 of the p53 gene. The observed loss of heterozygosity of the marker on chromosome 17p was 36% of the informative cases, while 58% of the tumors contained a mutation in p53. This might be an indication that the mutation in p53 precedes the loss involving p53 on the homologous chromosome. Four tumors showed the presence of two different missense mutations in the p53 gene; in one of them the mutations involved the first two nucleotides of one and the same codon, while in a second case they were found within the same exon. In the remaining two cases the assessment of their situation, cis or trans, was not feasible. Six of the 18 mutations observed during this study were base transversions, including 3 G- > T substitutions. The hotspot codons 248, 273 and 282, were found to be involved in a third of the mutations.
authors.affiliation: MGC-Department of Human Genetics, Sylvius Laboratory, Leiden University, The Netherlands.
authors.forename: M H
authors.initials: MH
authors.lastname: Van Den Broek
authors.forename: B
authors.initials: B
authors.lastname: Renault
authors.forename: R
authors.initials: R
authors.lastname: Fodde
authors.forename: H
authors.initials: H
authors.lastname: Verspaget
authors.forename: G
authors.initials: G
authors.lastname: Griffioen
authors.forename: P M
authors.initials: PM
authors.lastname: Khan
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000595:Amino Acid Sequence; D001483:Base Sequence; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17; D003062:Codon / Q000235:genetics; D015179:Colorectal Neoplasms / Q000235:genetics* / Q000473:pathology; D005091:Exons / Q000235:genetics*; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D009426:Netherlands
chemical_list: D003062:Codon