Frequency of familial colon cancer and hereditary nonpolyposis colorectal cancer (Lynch syndrome) in a large population database

Fam Cancer. 2005;4(3):239-44. doi: 10.1007/s10689-005-0657-x.


Background and aims: Estimates have been made concerning the fraction of colorectal cancer (CRC) cases that meet Amsterdam I criteria but not Amsterdam II criteria. The aim of this study was to determine in a population setting what fraction of CRC cases can be considered familial high-risk, what fraction of these meet Amsterdam I or II criteria, and what fraction of CRC cases overall meet Amsterdam I and II criteria.

Methods: The Utah Population Data Base (UPDB), which links Utah genealogies to the Utah Cancer Registry, was used to examine the aims of the study. Familial high-risk was operationally defined as CRC occurring at an age <50 years or as a part of a first-degree relative pair. A subset of Amsterdam positive cancers was tested for microsatellite instability (MSI) to determine what fraction of Amsterdam families was likely to have hereditary nonpolyposis colorectal cancer (HNPCC).

Results: Of the 6,628 CRC cases in the UPDB, 24.5% met the criteria for familial high-risk. Of these, 2.6% met Amsterdam I criteria and 5.5% Amsterdam II. Of total data base CRC cases, 0.8% met Amsterdam I criteria and 2.3% Amsterdam II. In a subset of colon tumors from Amsterdam families, 70% were MSI stable.

Conclusions: Although nearly 25% of CRC cases in our population data base met a simple definition of familial high-risk, only a small fraction of these and a smaller fraction of total CRC cases met Amsterdam I or II criteria. Less than half of a limited set of tumors from Amsterdam families were MSI positive.

Publication types

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

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins / genetics
  • Colonic Neoplasms / diagnosis
  • Colonic Neoplasms / genetics*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics*
  • DNA Repair / genetics
  • Gene Frequency
  • Genetic Predisposition to Disease
  • Genomic Instability
  • Humans
  • Microsatellite Repeats
  • Middle Aged
  • MutL Protein Homolog 1
  • Nuclear Proteins / genetics
  • Risk Factors


  • Adaptor Proteins, Signal Transducing
  • Carrier Proteins
  • MLH1 protein, human
  • Nuclear Proteins
  • MutL Protein Homolog 1