DNA Bank for Polish Patients with a Predisposition for Intestinal Polyposis

• Authors: Andrzej Pławski , Marta Podralska , Wojciech Cichy , Michał Drews , Piotr Krokowicz , Ryszard Słomski
• Languages of publication: EN

Abstracts

EN

Intestinal polyposis syndromes include a group of diseases conditioned by the occurrence of hereditary mutations. The current paper presents a collection of DNA samples derived from persons from families with a diagnosed adenomatous polyposes which comprise: familial polyposis coli together with its recessive form, Turcot's syndrome, inherited mixed polyposis as well as persons with recognised hamartomatous polyposes: juvenile polyposis, Peutz-Jeghers syndrome, Cowden syndrome and Proteus syndrome.The aim of the study was to present current achievements associated with the establishment of the DNA Bank for intestinal polyposis.Material and methods. Investigations were conducted on DNA isolated from cells of the peripheral blood. The search for mutations in APC, MUTYH, PTEN, BMPR1A, SMAD4 and STK11 genes preconditioning the occurrence of individual diseases was performed employing PCR-SSCP, PCR-HD, DHPLC as well as RFLP techniques and DNA sequencing.Results. At the present time, the DNA Bank comprises the total of 1097 DNA samples derived from 449 families with intestinal polyposis of which 945 samples come from persons in whose families Familial Adenomatous Polyposis (FAP) occurred. In addition, the collected data also contain material for analyses derived from 25 families with Peutz-Jeghers syndrome and 20 families with juvenile polyposis as well as single cases with the Cowden syndrome, Proteus syndrome and desmoid tumors. The performed molecular investigations allowed identification of mutations ranging from 44 to 50%.Conclusions. With regard to the quantity of the material collected for analyses and the efficacy level of the employed molecular methods, the obtained results are in keeping with the results found in the literature from the field of genetics and medicine and do not differ from world standards. The collection of data and materials for investigations in the case of rare diseases allows qualitative, organisational and economic optimisation of the performed investigations.

Keywords

EN

DNA Bank; familial adenomatous polyposis; juvenile polyposis syndrome; Peutz-Jeghers syndrome; Cowden syndrome; Proteus syndrome colorectal cancer; Polish population

• Publisher: Index Copernicus International
• Journal: Polish Journal of Surgery
• Year: 2009
• Volume: 81
• Issue: 10
• Pages: 465-473

Dates

published

1 - 10 - 2009

online

25 - 11 - 2009

Contributors

author

Andrzej Pławski

• Institute of Human Genetics, PAS, Poznań

author

Marta Podralska

• Institute of Human Genetics, PAS, Poznań

author

Wojciech Cichy

• Departments of Pediatric Gastroenterology and Metabolic Diseases, Medical University, Poznań

author

Michał Drews

• Department of General, Gastroenterological and Endocrinological Surgery, Medical University, Poznań

author

Piotr Krokowicz

• Department of General, and Colorectal Surgery, Medical University, Poznań

author

Ryszard Słomski

• Institute of Human Genetics, PAS, Poznań

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Identifiers

DOI

10.2478/v10035-009-0076-z