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

Abstract EN

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.