Juvenile Polyposis Syndrome

Česká verzia

Authors: P. Vasovčák ¹; L. Foretová ²; A. Puchmajerová ¹; A. Křepelová ¹
Authors place of work: Ústav biologie a lékařské genetiky, Fakultní nemocnice v Motole, Praha ¹; Oddělení epidemiologie a genetiky nádorů, Masarykův onkologický ústav, Brno ²
Published in the journal: Klin Onkol 2012; 25(Supplementum): 16-17

Summary

Juvenile polyposis syndrome (JPS) is an autosomal dominant disorder characterized by the occurrence of juvenile polyps and predisposition to cancer of the gastrointestinal tract (GIT). Characteristic feature of juvenile polyps are irregular cystic glands filled with mucus not observed in other colorectal cancer syndromes. Germline mutations in the SMAD4 and BMPR1A genes are found in 40% of the JP individuals. Hereditary hemorrhagic telangiectasia (HHT) and higher frequency of gastric polyposis are associated mostly with SMAD4 mutations.

Key words:
juvenile polyp – GIT tumors – hereditary hemorrhagic telangiectasia – SMAD4 – BMPR1A

This study was supported by the project of the research organisation 00064203, by the European Regional Development Fund and by the national budget of the Czech Republic (OP VaVpI – RECaMO, CZ.1.05/2.1.00/03.0101).

The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study.

The Editorial board declares that the manuscript met the ICMJE “uniform requirements” for biomedical papers

Submitted:
26. 4. 2012

Accepted:
25. 6. 2012

Zdroje

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