Prostate cancer in a male with Holt-Oram syndrome: first clinical association of the TBX5 mutation.
Affiliation
Department of Radiation Oncology, North Coast Cancer Institute, Coffs Harbour, NSW 2450, Australia.Issue Date
2013-08-05Keywords
PROSTATE CANCERGENETICS
Local subject classification
HOLT-ORAM SYNDROME
Metadata
Show full item recordCitation
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 UrolPublisher
Hindawi Publishing Corp.Journal
Case reports in urologyDOI
10.1155/2013/405343PubMed ID
23984174Abstract
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.Item Type
ArticleLanguage
enISSN
2090-696Xae974a485f413a2113503eed53cd6c53
10.1155/2013/405343
Scopus Count
Collections
Related articles
- Clinical and molecular characterisation of Holt-Oram syndrome focusing on cardiac manifestations.
- Authors: Jhang WK, Lee BH, Kim GH, Lee JO, Yoo HW
- Issue date: 2015 Aug
- Novel TBX5 mutations in patients with Holt-Oram syndrome.
- Authors: Debeer P, Race V, Gewillig M, Devriendt K, Frijns JP
- Issue date: 2007 Sep
- Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome.
- Authors: Basson CT, Bachinsky DR, Lin RC, Levi T, Elkins JA, Soults J, Grayzel D, Kroumpouzou E, Traill TA, Leblanc-Straceski J, Renault B, Kucherlapati R, Seidman JG, Seidman CE
- Issue date: 1997 Jan
- KLF13 is a genetic modifier of the Holt-Oram syndrome gene TBX5.
- Authors: Darwich R, Li W, Yamak A, Komati H, Andelfinger G, Sun K, Nemer M
- Issue date: 2017 Mar 1
- Familial dilated cardiomyopathy associated with pathogenic TBX5 variants: Expanding the cardiac phenotype associated with Holt-Oram syndrome.
- Authors: Patterson J, Coats C, McGowan R
- Issue date: 2020 Jul