Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary

Colorectal cancer (CRC) is one of the most common malignant tumours in Poland. Annually approximately 11 000 new cases of CRC are diagnosed, while the number of deaths caused by CRC approaches 8 000. Five-year survival does not exceed 20%. Familial adenomatous polyposis (FAP) is responsible for abou...

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Autores principales: Stec, Rafał, Pławski, Andrzej, Synowiec, Agnieszka, Mączewski, Michał, Szczylik, Cezary
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/PMC3281354/
https://www.ncbi.nlm.nih.gov/pubmed/22371760
http://dx.doi.org/10.5114/aoms.2010.13911
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author Stec, Rafał
Pławski, Andrzej
Synowiec, Agnieszka
Mączewski, Michał
Szczylik, Cezary
author_facet Stec, Rafał
Pławski, Andrzej
Synowiec, Agnieszka
Mączewski, Michał
Szczylik, Cezary
author_sort Stec, Rafał
collection PubMed
description Colorectal cancer (CRC) is one of the most common malignant tumours in Poland. Annually approximately 11 000 new cases of CRC are diagnosed, while the number of deaths caused by CRC approaches 8 000. Five-year survival does not exceed 20%. Familial adenomatous polyposis (FAP) is responsible for about 1% of new cases of CRC. The risk of CRC in FAP syndrome is 100%, and the average age of CRC development is 39 years. Early colectomy is the most effective method of CRC prevention. We report an atypical case of CRC in a patient with FAP caused by 2797-2800delAACA mutation of the APC gene.
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spelling pubmed-32813542012-02-27 Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary Stec, Rafał Pławski, Andrzej Synowiec, Agnieszka Mączewski, Michał Szczylik, Cezary Arch Med Sci Case Report Colorectal cancer (CRC) is one of the most common malignant tumours in Poland. Annually approximately 11 000 new cases of CRC are diagnosed, while the number of deaths caused by CRC approaches 8 000. Five-year survival does not exceed 20%. Familial adenomatous polyposis (FAP) is responsible for about 1% of new cases of CRC. The risk of CRC in FAP syndrome is 100%, and the average age of CRC development is 39 years. Early colectomy is the most effective method of CRC prevention. We report an atypical case of CRC in a patient with FAP caused by 2797-2800delAACA mutation of the APC gene. Termedia Publishing House 2010-04-30 2010-04-30 /pmc/articles/PMC3281354/ /pubmed/22371760 http://dx.doi.org/10.5114/aoms.2010.13911 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
Stec, Rafał
Pławski, Andrzej
Synowiec, Agnieszka
Mączewski, Michał
Szczylik, Cezary
Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title_full Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title_fullStr Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title_full_unstemmed Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title_short Colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of APC gene): case report, review of the literature and genetic commentary
title_sort colorectal cancer in the course of familial adenomatous polyposis syndrome (“de novo” pathogenic mutation of apc gene): case report, review of the literature and genetic commentary
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3281354/
https://www.ncbi.nlm.nih.gov/pubmed/22371760
http://dx.doi.org/10.5114/aoms.2010.13911
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