Familial Cancer

, Volume 4, Issue 3, pp 239–244

Frequency of Familial Colon Cancer and Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) in a Large Population Database

Authors

  • Richard A. Kerber
    • Department of Oncological SciencesUniversity of Utah, School of Medicine
  • Deborah W. Neklason
    • Department of Oncological SciencesUniversity of Utah, School of Medicine
  • Wade S. Samowitz
    • Department of PathologyUniversity of Utah, School of Medicine
    • Department of MedicineUniversity of Utah, School of Medicine
    • Huntsman Cancer InstituteUniversity of Utah
Article

DOI: 10.1007/s10689-005-0657-x

Cite this article as:
Kerber, R.A., Neklason, D.W., Samowitz, W.S. et al. Familial Cancer (2005) 4: 239. doi:10.1007/s10689-005-0657-x

Abstract

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.

Key words

Amsterdam criteriafamilial colon cancerhereditary nonpolyposis colorectal cancerHNPCCLynch syndrome

Copyright information

© Springer 2005