Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC Academic Article uri icon

Overview

MeSH Major

  • Adenomatous Polyposis Coli
  • Colorectal Neoplasms, Hereditary Nonpolyposis
  • Genes, APC
  • Jews
  • Point Mutation

abstract

  • Approximately 130,000 cases of colorectal cancer (CRC) are diagnosed in the United States each year, and about 15% of these have a hereditary component. Two well-defined syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis colorectal cancer (HNPCC), account for up to 5% of the total new cases of CRC. Truncating APC mutations are responsible for FAP, and defective mismatch repair genes cause HNPCC. However, the genes responsible for most of the familial cases are unknown. Here we report a mutation (T to A at APC nucleotide 3920) found in 6% of Ashkenazi Jews and about 28% of Ashkenazim with a family history of CRC. Rather than altering the function of the encoded protein, this mutation creates a small hypermutable region of the gene, indirectly causing cancer predisposition.

publication date

  • September 18, 1997

Research

keywords

  • Academic Article

Identity

Language

  • eng

Digital Object Identifier (DOI)

  • 10.1038/ng0997-79

PubMed ID

  • 9288102

Additional Document Info

start page

  • 79

end page

  • 83

volume

  • 17

number

  • 1