2.50
Hdl Handle:
http://hdl.handle.net/10541/82134
Title:
Germline TP53 mutations and Li-Fraumeni syndrome.
Authors:
Varley, Jennifer
Abstract:
There are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the pedigrees allows a comprehensive analysis of genotype-phenotype correlations and an understanding of the tumors that are associated with germline TP53 mutations. This review will discuss the spectrum of mutations and the methods for mutation detection, the tumors associated with inheritance of a germline mutation, and some of the ethical and clinical problems in patients with a germline TP53 mutation.
Affiliation:
Paterson Institute for Cancer Research, Christie NHS Trust, Manchester, UK. jvarley@picr.man.ac.uk
Citation:
Germline TP53 mutations and Li-Fraumeni syndrome. 2003, 21 (3):313-20 Hum. Mutat.
Journal:
Human Mutation
Issue Date:
Mar-2003
URI:
http://hdl.handle.net/10541/82134
DOI:
10.1002/humu.10185
PubMed ID:
12619118
Type:
Article
Language:
en
ISSN:
1098-1004
Appears in Collections:
All Paterson Institute for Cancer Research

Full metadata record

DC FieldValue Language
dc.contributor.authorVarley, Jennifer-
dc.date.accessioned2009-09-22T16:04:09Z-
dc.date.available2009-09-22T16:04:09Z-
dc.date.issued2003-03-
dc.identifier.citationGermline TP53 mutations and Li-Fraumeni syndrome. 2003, 21 (3):313-20 Hum. Mutat.en
dc.identifier.issn1098-1004-
dc.identifier.pmid12619118-
dc.identifier.doi10.1002/humu.10185-
dc.identifier.urihttp://hdl.handle.net/10541/82134-
dc.description.abstractThere are now reports of nearly 250 independent germline TP53 (p53) mutations in over 100 publications. Such mutations are typically associated with Li-Fraumeni or Li-Fraumeni-like syndrome, although many have been identified in cohorts of patients with tumors considered to be typical of LFS. In general, the spectrum of mutations that has been detected in the germline reflects that found in tumors, although there are some notable exceptions in certain tumor types. Detailed knowledge of the pedigrees allows a comprehensive analysis of genotype-phenotype correlations and an understanding of the tumors that are associated with germline TP53 mutations. This review will discuss the spectrum of mutations and the methods for mutation detection, the tumors associated with inheritance of a germline mutation, and some of the ethical and clinical problems in patients with a germline TP53 mutation.en
dc.language.isoenen
dc.subjectTumour Suppressor Protein p53en
dc.subject.meshFamily Health-
dc.subject.meshGenotype-
dc.subject.meshGerm-Line Mutation-
dc.subject.meshHumans-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshPhenotype-
dc.subject.meshTumor Suppressor Protein p53-
dc.titleGermline TP53 mutations and Li-Fraumeni syndrome.en
dc.typeArticleen
dc.contributor.departmentPaterson Institute for Cancer Research, Christie NHS Trust, Manchester, UK. jvarley@picr.man.ac.uken
dc.identifier.journalHuman Mutationen

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