Prostate cancer in a male with Holt-Oram syndrome: first clinical association of the TBX5 mutation.
dc.contributor.author | Aherne, Noel J | |
dc.contributor.author | Rangaswamy, Guhan | |
dc.contributor.author | Thirion, Pierre | |
dc.date.accessioned | 2014-08-01T11:31:21Z | |
dc.date.available | 2014-08-01T11:31:21Z | |
dc.date.issued | 2013-08-05 | |
dc.identifier.citation | Aherne NJ, Rangaswamy G, Thirion P. Prostate cancer in a male with Holt-Oram syndrome: first clinical association of the TBX5 mutation. Case Rep Urol. 2013, 2013:405343 Case Rep Urol | en_GB |
dc.identifier.issn | 2090-696X | |
dc.identifier.pmid | 23984174 | |
dc.identifier.doi | 10.1155/2013/405343 | |
dc.identifier.uri | http://hdl.handle.net/10147/324092 | |
dc.description.abstract | 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. | |
dc.language.iso | en | en |
dc.publisher | Hindawi Publishing Corp. | en_GB |
dc.rights | Archived with thanks to Case reports in urology | en_GB |
dc.subject | PROSTATE CANCER | en_GB |
dc.subject | GENETICS | en_GB |
dc.subject.other | HOLT-ORAM SYNDROME | en_GB |
dc.title | Prostate cancer in a male with Holt-Oram syndrome: first clinical association of the TBX5 mutation. | en_GB |
dc.type | Article | en |
dc.contributor.department | Department of Radiation Oncology, North Coast Cancer Institute, Coffs Harbour, NSW 2450, Australia. | en_GB |
dc.identifier.journal | Case reports in urology | en_GB |
dc.description.funding | No funding | en |
dc.description.province | Leinster | en |
dc.description.peer-review | peer-review | en |
refterms.dateFOA | 2018-08-24T14:37:38Z | |
html.description.abstract | 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. |