First Polish Cowden syndrome patient with confirmed PTEN gene mutation

Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours...

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Autores principales: Podralska, Marta, Nowakowska, Dorota, Steffen, Jan, Cichy, Wojciech, Slomski, Ryszard, Plawski, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Termedia Publishing House 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278958/
https://www.ncbi.nlm.nih.gov/pubmed/22371735
http://dx.doi.org/10.5114/aoms.2010.13522
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author Podralska, Marta
Nowakowska, Dorota
Steffen, Jan
Cichy, Wojciech
Slomski, Ryszard
Plawski, Andrzej
author_facet Podralska, Marta
Nowakowska, Dorota
Steffen, Jan
Cichy, Wojciech
Slomski, Ryszard
Plawski, Andrzej
author_sort Podralska, Marta
collection PubMed
description Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with Cowden syndrome with an identified mutation in the PTEN gene. The disease course of the patient is described and discussed along with other cases of carriers of substitution 68T>A in the PTEN gene.
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spelling pubmed-32789582012-02-27 First Polish Cowden syndrome patient with confirmed PTEN gene mutation Podralska, Marta Nowakowska, Dorota Steffen, Jan Cichy, Wojciech Slomski, Ryszard Plawski, Andrzej Arch Med Sci Case Report Cowden syndrome is a rare hereditary disease. Incidence of the disease is conditioned by occurrence of mutations in the PTEN gene. The disease has a frequency of 1/120,000 newborn and it predisposes to the occurrence of hamartoma polyps in the gastrointestinal tract, skin tumours, as well as tumours of the breast, ovary and thyroid. Here we describe the case of a Polish patient diagnosed with Cowden syndrome with an identified mutation in the PTEN gene. The disease course of the patient is described and discussed along with other cases of carriers of substitution 68T>A in the PTEN gene. Termedia Publishing House 2010-03-09 2010-03-01 /pmc/articles/PMC3278958/ /pubmed/22371735 http://dx.doi.org/10.5114/aoms.2010.13522 Text en Copyright © 2010 Termedia & Banach http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution-Noncommercial 3.0 Unported License, permitting all non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Podralska, Marta
Nowakowska, Dorota
Steffen, Jan
Cichy, Wojciech
Slomski, Ryszard
Plawski, Andrzej
First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title_full First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title_fullStr First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title_full_unstemmed First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title_short First Polish Cowden syndrome patient with confirmed PTEN gene mutation
title_sort first polish cowden syndrome patient with confirmed pten gene mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3278958/
https://www.ncbi.nlm.nih.gov/pubmed/22371735
http://dx.doi.org/10.5114/aoms.2010.13522
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