Familial Adenomatous Polyposis (FAP) and Other Polyposis Syndromes

Hereditary Cancer in Clinical Practice

Rodney J Scott¹ 

[1] Newcastle Bowel Cancer Research Collaborative, University of Newcastle and the Hunter Medical Research Institute, Newcastle, NSW, Australia

关键词: genetics;    polyposis;    hamartomatous;    adenomatous;    familial;   

Others  :  1183603
DOI  :  10.1186/1897-4287-1-1-19

【 摘 要 】

There have been significant advances in our knowledge about the molecular changes that precede and accompany the development of inherited predispositions to colorectal cancer. In this review the clinical relationship to the molecular changes associated with the polyposis syndromes is presented. The aim is to put into context the diverse findings that have been shown to be associated with the development of colorectal cancer in persons who harbor a predisposition to develop disease at unusually early ages. The main focus will be on familial adenomatous polyposis as it serves as a model disease and is the most extensively studied of all of the polyposis syndromes. In addition some information is provided that explains the relationship between a germline change in one gene and what consequences that can have for a particular cell and the development of disease.

   

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