Characterization of germline TP53 splicing mutations and their genetic and functional analysis.

2.50
Hdl Handle:
http://hdl.handle.net/10541/85501
Title:
Characterization of germline TP53 splicing mutations and their genetic and functional analysis.
Authors:
Varley, Jennifer; Attwooll, Claire L; White, Gavin R M; McGown, Gail; Thorncroft, Mary R; Kelsey, Anna M; Greaves, Martin J; Boyle, John M; Birch, Jillian M
Abstract:
Germline TP53 splicing mutations have been described infrequently (>2%) in the literature, however in a series of 40 patients and families identified by our group in which there are germline TP53 mutations, seven affect splicing (18%). The low figure reported in the literature might reflect the method of mutation detection, which in many studies does not include all splice junctions. These data indicate that a significant proportion of TP53 germline mutations are currently unrecognized. We have carried out detailed studies of the effects of the different mutations on splicing, and see distinct variations in the effects of the same mutation in different patients. Furthermore we have identified the usage of a non-consensus splice donor site in four families with an intron 4 splice donor mutation.
Affiliation:
CRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, Manchester M20 4BX, UK.
Citation:
Characterization of germline TP53 splicing mutations and their genetic and functional analysis. 2001, 20 (21):2647-54 Oncogene
Journal:
Oncogene
Issue Date:
10-May-2001
URI:
http://hdl.handle.net/10541/85501
DOI:
10.1038/sj.onc.1204369
PubMed ID:
11420676
Type:
Article
Language:
en
ISSN:
0950-9232
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorVarley, Jenniferen
dc.contributor.authorAttwooll, Claire Len
dc.contributor.authorWhite, Gavin R Men
dc.contributor.authorMcGown, Gailen
dc.contributor.authorThorncroft, Mary Ren
dc.contributor.authorKelsey, Anna Men
dc.contributor.authorGreaves, Martin Jen
dc.contributor.authorBoyle, John Men
dc.contributor.authorBirch, Jillian Men
dc.date.accessioned2009-11-06T10:52:55Z-
dc.date.available2009-11-06T10:52:55Z-
dc.date.issued2001-05-10-
dc.identifier.citationCharacterization of germline TP53 splicing mutations and their genetic and functional analysis. 2001, 20 (21):2647-54 Oncogeneen
dc.identifier.issn0950-9232-
dc.identifier.pmid11420676-
dc.identifier.doi10.1038/sj.onc.1204369-
dc.identifier.urihttp://hdl.handle.net/10541/85501-
dc.description.abstractGermline TP53 splicing mutations have been described infrequently (>2%) in the literature, however in a series of 40 patients and families identified by our group in which there are germline TP53 mutations, seven affect splicing (18%). The low figure reported in the literature might reflect the method of mutation detection, which in many studies does not include all splice junctions. These data indicate that a significant proportion of TP53 germline mutations are currently unrecognized. We have carried out detailed studies of the effects of the different mutations on splicing, and see distinct variations in the effects of the same mutation in different patients. Furthermore we have identified the usage of a non-consensus splice donor site in four families with an intron 4 splice donor mutation.en
dc.language.isoenen
dc.subjectTumour Suppressor Protein p53en
dc.subject.meshAlternative Splicing-
dc.subject.meshCell Line-
dc.subject.meshFibroblasts-
dc.subject.meshGenes, p53-
dc.subject.meshGerm-Line Mutation-
dc.subject.meshHumans-
dc.subject.meshImmunohistochemistry-
dc.subject.meshIntrons-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshLoss of Heterozygosity-
dc.subject.meshLymphocytes-
dc.subject.meshNeoplasms-
dc.subject.meshReverse Transcriptase Polymerase Chain Reaction-
dc.subject.meshTumor Suppressor Protein p53-
dc.titleCharacterization of germline TP53 splicing mutations and their genetic and functional analysis.en
dc.typeArticleen
dc.contributor.departmentCRC Cancer Genetics Group, Paterson Institute for Cancer Research, Wilmslow Road, Manchester M20 4BX, UK.en
dc.identifier.journalOncogeneen

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