An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
Authors
Varley, JenniferMcGown, Gail
Thorncroft, Mary R
Tricker, Karen J
Teare, M Dawn
Santibanez-Koref, Mauro F
Martin, J
Birch, Jillian M
Evans, D Gareth R
Affiliation
CRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.Issue Date
1995-12
Metadata
Show full item recordAbstract
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.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 GeneticsPubMed ID
8825920Type
ArticleLanguage
enISSN
0022-2593Collections
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