Open AccessProstate Cancer in a Male with Holt-Oram Syndrome: First Clinical Association of theTBX5Mutation
Author(s) -
Noel J. Aherne,
Guhan Rangaswamy,
P. Thirion
Publication year - 2013
Publication title -
case reports in urology
Language(s) - English
Resource type - Journals
eISSN - 2090-696X
pISSN - 2090-6978
DOI - 10.1155/2013/405343
Subject(s) - medicine , prostate cancer , prostate , metastasis , cancer , downregulation and upregulation , gene , prostate diseases , cancer research , pathology , oncology , genetics , biology
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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