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Hereditary Nonpolyposis Colorectal Cancer

  • W. Donald Buie
  • Anthony R. MacLean
Chapter

Abstract

Hereditary nonpolyposis colorectal cancer (HNPCC) is one of two distinct inherited colorectal cancer syndromes with known genetic defects. It is estimated to account for approximately 5% of all large bowel cancers. Originally called Lynch syndrome after Dr. Henry Lynch, it is an autosomal dominant disorder characterized by a predilection for colorectal cancer and other secondary cancers in affected individuals. Although initially separated into Lynch I (families with colorectal cancer alone) and Lynch II (families with colorectal cancer associated with other secondary cancers), this distinction does not conform to genotypic differences but appears to be due to phenotypic variation. Subsequently, the name HNPCC was formulated to differentiate it from familial adenomatous polyposis (FAP) syndrome. Unfortunately this name is misleading as these patients do form polyps (although to a lesser degree than in FAP) and it does not acknowledge the secondary cancers which are an important part of this syndrome. Recently, there has been a trend back toward the use of Lynch syndrome to describe this entity.

Keywords

Colorectal Cancer Endometrial Cancer Familial Adenomatous Polyposis Lynch Syndrome Microsatellite Instability 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer Science+Business Media, LLC 2011

Authors and Affiliations

  1. 1.Department of Surgery, Division of General SurgeryUniversity of CalgaryCalgaryCanada
  2. 2.CalgaryCanada

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