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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2013-01-01
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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. |
format | Article |
id | doaj-art-ee1d3e6bdd2c4648a575c2a96eb7e7d3 |
institution | Kabale University |
issn | 2090-696X 2090-6978 |
language | English |
publishDate | 2013-01-01 |
publisher | Wiley |
record_format | Article |
series | Case Reports in Urology |
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 |
work_keys_str_mv | AT noeljaherne prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation AT guhanrangaswamy prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation AT pierrethirion prostatecancerinamalewithholtoramsyndromefirstclinicalassociationofthetbx5mutation |