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APC gene mutations in the mutation cluster region are rare in esophageal cancers

S M Powell1, N Papadopoulos, K W Kinzler

  • 1Department of Medicine, Indiana University, Indianapolis.

Gastroenterology
|December 1, 1994
PubMed
Abstract

Insights

The Adenomatous Polyposis Coli (APC) gene is implicated in a small fraction of esophageal cancers. Further research is needed to identify other tumor suppressor genes on chromosome 5q involved in esophageal tumorigenesis.

Area of Science:

  • Oncology
  • Molecular Biology
  • Genetics

Background:

  • The molecular mechanisms driving esophageal cancer development remain incompletely understood.
  • Frequent loss of genetic material on chromosome 5q suggests a critical tumor suppressor gene's involvement.
  • The Adenomatous Polyposis Coli (APC) gene, located on chromosome 5q, is a potential candidate for this role.

Purpose of the Study:

  • To investigate the role of the Adenomatous Polyposis Coli (APC) gene in the development of esophageal cancers.
  • To screen for mutations in the APC gene within esophageal tumor samples.

Main Methods:

  • Analysis of 35 esophageal squamous cell carcinomas and 18 adenocarcinomas.
  • Screening for truncating mutations in a key region of the APC gene using an in vitro synthesized protein assay.
  • Utilizing single-strand conformation polymorphism (SSCP) analysis to detect missense and nonsense mutations in other APC gene regions.

Main Results:

  • Two cases, one squamous cell carcinoma and one adenocarcinoma, exhibited truncating mutations in the APC gene's mutation cluster region.
  • These mutations were identified within the screened segments of the APC gene.

Conclusions:

  • The Adenomatous Polyposis Coli (APC) gene is identified as a contributor to a subset of esophageal carcinomas.
  • The low frequency of APC mutations, contrasted with high rates of chromosome 5q loss of heterozygosity, indicates other 5q tumor suppressor genes are likely involved in most esophageal tumors.

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