Frequency of common and novel inactivating APC mutations in 202 families with familial adenomatous polyposis

Hum Mol Genet. 1994 Jan;3(1):181-4. doi: 10.1093/hmg/3.1.181.


In the course of presymptomatic diagnosis in families with familial adenomatous polyposis (FAP) we screened 202 unrelated patients for mutations in the APC gene. Germ-line mutations were identified in 20.8% of the index patients by a single step screening procedure based on heteroduplex analysis of a PCR product encompassing codons 1027-1384 of the APC gene. The most common mutations in our sample were a 5 bp deletion at codon 1309 in 9% of the families, a 5 bp deletion at codon 1061 in 5% and a 4 bp deletion at codon 1068 in 2.5% of the families. In addition, 11 novel mutations localized within the exons 11-15 of the APC gene were identified by the heteroduplex or SSCP methods.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adenomatous Polyposis Coli / blood
  • Adenomatous Polyposis Coli / genetics*
  • Adenomatous Polyposis Coli / surgery
  • Base Sequence
  • Child
  • DNA, Neoplasm / blood
  • DNA, Neoplasm / genetics
  • DNA, Neoplasm / isolation & purification
  • Exons
  • Female
  • Genes, APC*
  • Genetic Variation*
  • Humans
  • Male
  • Molecular Sequence Data
  • Nucleic Acid Heteroduplexes / genetics
  • Pedigree
  • Point Mutation*


  • DNA, Neoplasm
  • Nucleic Acid Heteroduplexes