Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.
AffiliationCRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK. email@example.com
MetadataShow full item record
AbstractMany polymorphisms have been reported in the TP53 gene. Some of these are within the coding region, and may affect the function of the p53 protein, others are within introns or non-coding regions, and their significance is unclear. Recently, a number of publications have claimed that polymorphisms within intron 6 are responsible for inherited predisposition to childhood malignancies, familial breast cancer, and Li-Fraumeni syndrome (LFS). We find no evidence for intron 6 sequence variants predisposing to LFS in our cohort of families and, furthermore, we show that some of the conclusions of other groups cannot be supported by data from our analysis.
CitationSignificance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. 2001, 129 (1):85-7 Cancer Genet. Cytogenet.
JournalCancer Genetics and Cytogenetics
- The TP53 gene promoter is not methylated in families suggestive of Li-Fraumeni syndrome with no germline TP53 mutations.
- Authors: Finkova A, Vazna A, Hrachovina O, Bendova S, Prochazkova K, Sedlacek Z
- Issue date: 2009 Aug
- Germ-line mutations of TP53 in Li-Fraumeni families: an extended study of 39 families.
- Authors: Varley JM, McGown G, Thorncroft M, Santibanez-Koref MF, Kelsey AM, Tricker KJ, Evans DG, Birch JM
- Issue date: 1997 Aug 1
- Identification of a rare polymorphism in the human TP53 promoter.
- Authors: Attwooll CL, McGown G, Thorncroft M, Stewart FJ, Birch JM, Varley JM
- Issue date: 2002 Jun
- Excessive genomic DNA copy number variation in the Li-Fraumeni cancer predisposition syndrome.
- Authors: Shlien A, Tabori U, Marshall CR, Pienkowska M, Feuk L, Novokmet A, Nanda S, Druker H, Scherer SW, Malkin D
- Issue date: 2008 Aug 12
- Molecular basis of the Li-Fraumeni syndrome: an update from the French LFS families.
- Authors: Bougeard G, Sesboüé R, Baert-Desurmont S, Vasseur S, Martin C, Tinat J, Brugières L, Chompret A, de Paillerets BB, Stoppa-Lyonnet D, Bonaïti-Pellié C, Frébourg T, French LFS working group.
- Issue date: 2008 Aug