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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Main Authors: Noel J. Aherne, Guhan Rangaswamy, Pierre Thirion
Format: Article
Language:English
Published: Wiley 2013-01-01
Series:Case Reports in Urology
Online Access:http://dx.doi.org/10.1155/2013/405343
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author Noel J. Aherne
Guhan Rangaswamy
Pierre Thirion
author_facet Noel J. Aherne
Guhan Rangaswamy
Pierre Thirion
author_sort Noel J. Aherne
collection DOAJ
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 doaj-art-ee1d3e6bdd2c4648a575c2a96eb7e7d32025-02-03T05:51:23ZengWileyCase Reports in Urology2090-696X2090-69782013-01-01201310.1155/2013/405343405343Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 MutationNoel J. Aherne0Guhan Rangaswamy1Pierre Thirion2Department of Radiation Oncology, North Coast Cancer Institute, Coffs Harbour, NSW 2450, AustraliaDepartment of Radiation Oncology, St. Luke’s Hospital, Dublin, IrelandDepartment of Radiation Oncology, St. Luke’s Hospital, Dublin, IrelandHolt-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.http://dx.doi.org/10.1155/2013/405343
spellingShingle Noel J. Aherne
Guhan Rangaswamy
Pierre Thirion
Prostate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of the TBX5 Mutation
Case Reports in Urology
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
url http://dx.doi.org/10.1155/2013/405343
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AT guhanrangaswamy prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation
AT pierrethirion prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation