Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.

2.50
Hdl Handle:
http://hdl.handle.net/10541/85526
Title:
Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome.
Authors:
Varley, Jennifer; McGown, Gail; Thorncroft, Mary R; Kelsey, Anna M; Birch, Jillian M
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.
Affiliation:
CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, M20 4BX, Manchester, UK. jvarley@picr.man.ac.uk
Citation:
Significance of intron 6 sequence variations in the TP53 gene in Li-Fraumeni syndrome. 2001, 129 (1):85-7 Cancer Genet. Cytogenet.
Journal:
Cancer Genetics and Cytogenetics
Issue Date:
Aug-2001
URI:
http://hdl.handle.net/10541/85526
PubMed ID:
11520573
Type:
Article
Language:
en
ISSN:
0165-4608
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorMcGown, Gailen
dc.contributor.authorThorncroft, Mary Ren
dc.contributor.authorKelsey, Anna Men
dc.contributor.authorBirch, Jillian Men
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.en
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

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