Hereditary polyposis syndromes and hereditary non-polyposis colorectal cancer

Colorectal cancer due to hereditary syndromes comprises approximately 5% of the overall colorectal cancer burden. Conditions fall into two distinct categories, the polyposis syndromes and hereditary non-polyposis colorectal cancer. It is important for the clinician to have a working knowledge of bot...

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Bibliographic Details
Published in:Baillière's best practice & research. Clinical gastroenterology 2003-04, Vol.17 (2), p.237-258
Main Authors: Allen, Brian A, Terdiman, Jonathan P
Format: Article
Language:English
Subjects:
Adenomatous Polyposis Coli - diagnosis
Adenomatous Polyposis Coli - genetics
Adenomatous Polyposis Coli - therapy
adenomatous polyposis diagnosis/aetiology/genetics/therapy
Adolescent
Adult
Child
Colorectal cancer
Colorectal Neoplasms - diagnosis
Colorectal Neoplasms - genetics
Colorectal Neoplasms - therapy
Family medical history
genetic predisposition to disease
Genetics
Humans
intestinal polyps/diagnosis/genetics
Mutation
non-polyposis/diagnosis/genetics/therapy
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Summary:Colorectal cancer due to hereditary syndromes comprises approximately 5% of the overall colorectal cancer burden. Conditions fall into two distinct categories, the polyposis syndromes and hereditary non-polyposis colorectal cancer. It is important for the clinician to have a working knowledge of both as screening and surveillance recommendations differ significantly from those applicable to the general population. The polyposis syndromes include familial adenomatous polyposis, Peutz–Jeghers syndrome, juvenile polyposis, and Cowden syndrome. For each condition, a review of both the intestinal and extra-intestinal clinical findings is presented as well as the genetic basis, genetic testing, screening, surveillance and treatment options. As genetic testing for several of these conditions has recently become both commercially available and standard practice, special attention is given to indications and strategies for genetic testing in hereditary colorectal cancer syndromes.
ISSN:1521-6918
1532-1916
DOI:10.1016/S1521-6918(02)00149-X