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Case Reports in Urology
Volume 2013 (2013), Article ID 405343, 2 pages
Case Report

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

1Department of Radiation Oncology, North Coast Cancer Institute, Coffs Harbour, NSW 2450, Australia
2Department of Radiation Oncology, St. Luke’s Hospital, Dublin, Ireland

Received 21 April 2013; Accepted 18 June 2013

Academic Editors: A. Marte and F. Ramezanzadeh

Copyright © 2013 Noel J. Aherne et al. 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.


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.