title: Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.
abstract: Many 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.
authors.affiliation: CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK. jvarley@picr.man.ac.uk
authors.forename: J M
authors.initials: JM
authors.lastname: Varley
authors.forename: G
authors.initials: G
authors.lastname: McGown
authors.forename: M
authors.initials: M
authors.lastname: Thorncroft
authors.forename: A M
authors.initials: AM
authors.lastname: Kelsey
authors.forename: J M
authors.initials: JM
authors.lastname: Birch
mesh_terms: D016158:Genes, p53; D020022:Genetic Predisposition to Disease; D006801:Humans; D007438:Introns; D016864:Li-Fraumeni Syndrome / Q000235:genetics*; D011110:Polymorphism, Genetic