An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53

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 S in all available affected subjects. Counselling, screening, and issues surrounding presymptomatic testing are discussed.