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dc.contributor.authorVarley, Jennifer
dc.contributor.authorMcGown, Gail
dc.contributor.authorThorncroft, Mary R
dc.contributor.authorKelsey, Anna M
dc.contributor.authorBirch, Jillian M
dc.date.accessioned2009-11-06T10:57:48Z
dc.date.available2009-11-06T10:57:48Z
dc.date.issued2001-08
dc.identifier.citationSignificance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. 2001, 129 (1):85-7 Cancer Genet. Cytogenet.en
dc.identifier.issn0165-4608
dc.identifier.pmid11520573
dc.identifier.urihttp://hdl.handle.net/10541/85526
dc.description.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.
dc.language.isoenen
dc.subject.meshGenes, p53
dc.subject.meshGenetic Predisposition to Disease
dc.subject.meshHumans
dc.subject.meshIntrons
dc.subject.meshLi-Fraumeni Syndrome
dc.subject.meshPolymorphism, Genetic
dc.titleSignificance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.en
dc.typeArticleen
dc.contributor.departmentCRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK. jvarley@picr.man.ac.uken
dc.identifier.journalCancer Genetics and Cytogeneticsen
html.description.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.


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