An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
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
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
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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.
Description
Date
1995-12
Publisher
Collections
Keywords
Gastrointestinal Cancer
Type
Article
Citation
An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 1995, 32 (12):942-5 J. Med. Genet.