An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.

2.50
Hdl Handle:
http://hdl.handle.net/10541/97417
Title:
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
Authors:
Varley, Jennifer; McGown, Gail; Thorncroft, Mary R; Tricker, Karen J; Teare, M Dawn; Santibanez-Koref, Mauro F; Martin, J; Birch, Jillian M; Evans, D Gareth R
Abstract:
We present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.
Affiliation:
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
Citation:
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 1995, 32 (12):942-5 J. Med. Genet.
Journal:
Journal of Medical Genetics
Issue Date:
Dec-1995
URI:
http://hdl.handle.net/10541/97417
PubMed ID:
8825920
Type:
Article
Language:
en
ISSN:
0022-2593
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.authorTricker, Karen Jen
dc.contributor.authorTeare, M Dawnen
dc.contributor.authorSantibanez-Koref, Mauro Fen
dc.contributor.authorMartin, Jen
dc.contributor.authorBirch, Jillian Men
dc.contributor.authorEvans, D Gareth Ren
dc.date.accessioned2010-04-26T14:46:06Z-
dc.date.available2010-04-26T14:46:06Z-
dc.date.issued1995-12-
dc.identifier.citationAn extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 1995, 32 (12):942-5 J. Med. Genet.en
dc.identifier.issn0022-2593-
dc.identifier.pmid8825920-
dc.identifier.urihttp://hdl.handle.net/10541/97417-
dc.description.abstractWe present an extended family with Li-Fraumeni syndrome characterised by gastric and breast carcinoma, glioma, sarcoma, and leukaemia. This family showed strong evidence of linkage to TP53, and three of four tumours analysed showed loss of the wild type allele. A codon 175 missense mutation was identified in exon 5 in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.en
dc.language.isoenen
dc.subjectGastrointestinal Canceren
dc.subject.meshCodon-
dc.subject.meshFemale-
dc.subject.meshGastrointestinal Neoplasms-
dc.subject.meshGenes, p53-
dc.subject.meshHumans-
dc.subject.meshLi-Fraumeni Syndrome-
dc.subject.meshMale-
dc.subject.meshMutation-
dc.subject.meshPedigree-
dc.titleAn extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.en
dc.typeArticleen
dc.contributor.departmentCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.en
dc.identifier.journalJournal of Medical Geneticsen

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