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Hamartomatous polyposis syndromes

Content Provider	Springer Nature : BioMed Central
Author	Stojcev, Zoran Borun, Pawel Hermann, Jacek Krokowicz, Piotr Cichy, Wojciech Kubaszewski, Lukasz Banasiewicz, Tomasz Plawski, Andrzej
Abstract	Hamartomas are tumour-like malformations, consisting of disorganized normal tissues, typical of the site of tumour manifestation. Familial manifestation of hamartomatous polyps can be noted in juvenile polyposis syndrome (JPS), Peutz-Jeghers’ syndrome (PJS), hereditary mixed polyposis syndrome (HMPS) and PTEN hamartoma tumour syndrome (PHTS). All the aforementioned syndromes are inherited in an autosomal dominant manner and form a rather heterogenous group both in respect to the number and localization of polyps and the risk of cancer development in the alimentary tract and other organs. Individual syndromes of hamartomatous polyposis frequently manifest similar symptoms, particularly during the early stage of the diseases when in several cases their clinical pictures do not allow for differential diagnosis. The correct diagnosis of the disease using molecular methods allows treatment to be implemented earlier and therefore more effectively since it is followed by a strict monitoring of organs that manifest a predisposition for neoplastic transformation.
Related Links	https://hccpjournal.biomedcentral.com/counter/pdf/10.1186/1897-4287-11-4.pdf
Ending Page	9
Page Count	9
Starting Page	1
File Format	HTM / HTML
ISSN	18974287
DOI	10.1186/1897-4287-11-4
Journal	Hereditary Cancer in Clinical Practice
Issue Number	1
Volume Number	11
Language	English
Publisher	BioMed Central
Publisher Date	2013-06-01
Access Restriction	Open
Subject Keyword	Cancer Research Oncology Human Genetics Juvenile polyposis syndrome Peutz-Jeghers’ syndrome Hereditary mixed polyposis syndrome Cowden’s syndrome BMPR1A gene SMAD4 gene PTEN gene STK11 gene
Content Type	Text
Resource Type	Review
Subject	Genetics (clinical) Oncology
Journal Impact Factor	2/2023
5-Year Journal Impact Factor	1.9/2023

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