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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Bibliographic Details
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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Summary: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.
ISSN:2090-696X
2090-6978