A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.

2.50
Hdl Handle:
http://hdl.handle.net/10541/93411
Title:
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.
Authors:
Varley, Jennifer; McGown, Gail; Thorncroft, Mary R; White, Gavin R M; Tricker, K J; Kelsey, Anna M; Birch, Jillian M; Evans, D Gareth R
Abstract:
We report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
Citation:
A novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 1998, 78 (8):1081-3 Br. J. Cancer
Journal:
British Journal of Cancer
Issue Date:
Oct-1998
URI:
http://hdl.handle.net/10541/93411
PubMed ID:
9792154
Type:
Article
Language:
en
ISSN:
0007-0920
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.authorWhite, Gavin R Men
dc.contributor.authorTricker, K Jen
dc.contributor.authorKelsey, Anna Men
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorEvans, D Gareth Ren
dc.date.accessioned2010-03-02T17:19:43Z-
dc.date.available2010-03-02T17:19:43Z-
dc.date.issued1998-10-
dc.identifier.citationA novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier. 1998, 78 (8):1081-3 Br. J. Canceren
dc.identifier.issn0007-0920-
dc.identifier.pmid9792154-
dc.identifier.urihttp://hdl.handle.net/10541/93411-
dc.description.abstractWe report a Li-Fraumeni syndrome family in which we have detected a splice acceptor mutation in intron 3 of TP53. The mutation affects one of the invariant residues at the splice acceptor site, as a result of which two aberrant transcripts are produced. A child with Wilms' tumour aged 3 years in this family was shown not to be a mutation carrier.en
dc.language.isoenen
dc.subjectKidney Canceren
dc.subjectTumour Suppressor Protein p53en
dc.subjectWilms Tumouren
dc.subject.meshChild, Preschool-
dc.subject.meshExons-
dc.subject.meshFemale-
dc.subject.meshGerm-Line Mutation-
dc.subject.meshHeterozygote-
dc.subject.meshHumans-
dc.subject.meshKidney Neoplasms-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshMale-
dc.subject.meshPedigree-
dc.subject.meshPoint Mutation-
dc.subject.meshTumor Suppressor Protein p53-
dc.subject.meshWilms Tumor-
dc.titleA novel TP53 splicing mutation in a Li-Fraumeni syndrome family: a patient with Wilms' tumour is not a mutation carrier.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.en
dc.identifier.journalBritish Journal of Canceren

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