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International Journal of Colorectal Disease

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01-08-2009 | Review

Genetics of the hamartomatous polyposis syndromes: a molecular review

Authors: Hui-Min Chen, Jing-Yuan Fang

Published in: International Journal of Colorectal Disease | Issue 8/2009

Abstract

Background and aims

Hamartomatous polyposis syndromes are a heterogeneous group of disorders that are inherited in an autosomal dominant fashion. These syndromes only represent a small number of the inherited gastrointestinal cancer predisposition syndromes. However, many of these syndromes carry a substantial risk for developing colorectal cancer, as well as extra-colonic malignancy.

Materials and methods

We searched for articles on inherited hamartomatous polyposis syndromes, including familial juvenile polyposis syndrome, Peutz–Jeghers syndrome, PTEN hamartoma tumor syndrome, multiple endocrine neoplasia syndrome 2B, hereditary mixed polyposis syndrome, Cronkhite–Canada syndrome, basal cell nevus syndrome, and neurofibromatosis 1, in PubMed, Embase, and Elsevier ScienceDirect. In this review, we briefly discuss the diagnosis and clinical features of these disorders and the molecular alterations responsible for these syndromes.

Results and conclusion

Given the clinical similarities of these hamartomatous syndromes and the autosomal dominant pattern of inheritance, it is sometimes difficult to differentiate hamartomatous polyps, especially with atypical presentation. The molecular analysis and diagnosis make it possible to identify the subtype of these syndromes. In addition, these tests raise an intriguing possibility that surveillance and early medical intervention will allow for the identification of at-risk patients and the reduction of morbidity and mortality.

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Title: Genetics of the hamartomatous polyposis syndromes: a molecular review
Authors: Hui-Min Chen
Jing-Yuan Fang
Publication date: 01-08-2009
Publisher: Springer-Verlag
Published in: International Journal of Colorectal Disease / Issue 8/2009
Print ISSN: 0179-1958
Electronic ISSN: 1432-1262
DOI: https://doi.org/10.1007/s00384-009-0714-2

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Genetics of the hamartomatous polyposis syndromes: a molecular review

Abstract

Background and aims

Materials and methods

Results and conclusion

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Background and aims

Materials and methods

Results and conclusion

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