Mutation in the TP53 gene in colorectal carcinoma detected by polymerase chain reaction

Genes Chromosomes Cancer. 1991 Jul;3(4):313-7. doi: 10.1002/gcc.2870030411.

Abstract

The human TP53 gene is a possible tumor suppressor since TP53 gene mutations are observed in greater than 70% of sporadic colorectal carcinoma DNAs. In genomic DNAs from seven colon cancer cell samples, a 405 base pair DNA fragment containing exon 5, intron 5, and exon 6 of the TP53 gene was amplified by polymerase chain reaction and analyzed for mutations. One sample [human colon cancer (HCC) 278] was found to have a TP53 mutation altering the amino acid glutamine 167 in exon 5. A deletion of 2 bases changed glutamine 167 (CAG) to alanine (GCA) and the resulting frame-shift produced an in-frame stop codon at amino acid 179. While the normal TP53 gene gives rise to a 53 kD protein, the estimated size of this mutant TP53 protein if expressed would be approximately 20 kD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenocarcinoma / genetics*
  • Amino Acid Sequence
  • Base Sequence
  • Colorectal Neoplasms / genetics*
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics*
  • Frameshift Mutation
  • Genes, p53*
  • Humans
  • Molecular Sequence Data
  • Polymerase Chain Reaction*
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • DNA, Neoplasm
  • Tumor Suppressor Protein p53