An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53. Issue 12 (December 1995)

• Record Type: Journal Article
• Authors: Varley, J M; McGown, G; Thorncroft, M; Tricker, K J; Teare, M D; Santibanez-Koref, M F; Martin, J; Birch, J M; Evans, D G
• Is Part Of: Journal of medical genetics. Volume 32:Issue 12(1995)
• Page Start: 942
• Page End: 945
• Publication Date: 1995-12
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.32.12.942
• Languages: English
• ISSNs: 1468-6244

Abstract

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.