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dc.contributor.authorVarley, Jennifer
dc.contributor.authorMcGown, Gail
dc.contributor.authorThorncroft, Mary R
dc.contributor.authorTricker, Karen J
dc.contributor.authorTeare, M Dawn
dc.contributor.authorSantibanez-Koref, Mauro F
dc.contributor.authorMartin, J
dc.contributor.authorBirch, Jillian M
dc.contributor.authorEvans, D Gareth R
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.
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
html.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.


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