Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation

Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical...

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Autores principales: Aherne, Noel J., Rangaswamy, Guhan, Thirion, Pierre
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748406/
https://www.ncbi.nlm.nih.gov/pubmed/23984174
http://dx.doi.org/10.1155/2013/405343
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author Aherne, Noel J.
Rangaswamy, Guhan
Thirion, Pierre
author_facet Aherne, Noel J.
Rangaswamy, Guhan
Thirion, Pierre
author_sort Aherne, Noel J.
collection PubMed
description Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome.
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spelling pubmed-37484062013-08-27 Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation Aherne, Noel J. Rangaswamy, Guhan Thirion, Pierre Case Rep Urol Case Report Holt-Oram syndrome is an autosomal dominant disorder which is caused by mutations of TBX5 and is characterised by cardiac and skeletal abnormalities. TBX5 is part of the T-box gene family and is thought to upregulate tumour cell proliferation and metastasis when mutated. We report the first clinical case of prostate cancer in an individual with Holt Oram syndrome. Hindawi Publishing Corporation 2013 2013-08-05 /pmc/articles/PMC3748406/ /pubmed/23984174 http://dx.doi.org/10.1155/2013/405343 Text en Copyright © 2013 Noel J. Aherne et al. https://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Aherne, Noel J.
Rangaswamy, Guhan
Thirion, Pierre
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title_full Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title_fullStr Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title_full_unstemmed Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title_short Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
title_sort prostate cancer in a male with holt-oram syndrome: first clinical association of the tbx5 mutation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3748406/
https://www.ncbi.nlm.nih.gov/pubmed/23984174
http://dx.doi.org/10.1155/2013/405343
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AT thirionpierre prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation

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