An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
Thorncroft, Mary R
Tricker, Karen J
Teare, M Dawn
Santibanez-Koref, Mauro F
Birch, Jillian M
Evans, D Gareth R
AffiliationCRC Department of Cancer Genetics, Paterson Institute for Cancer Research, Manchester, UK.
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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.
CitationAn extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. 1995, 32 (12):942-5 J. Med. Genet.
JournalJournal of Medical Genetics
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