PT  - JOURNAL ARTICLE
AU  - J M Varley
AU  - G McGown
AU  - M Thorncroft
AU  - K J Tricker
AU  - M D Teare
AU  - M F Santibanez-Koref
AU  - J Martin
AU  - J M Birch
AU  - D G Evans
TI  - An extended Li-Fraumeni kindred with gastric carcinoma and a codon 175 mutation in TP53.
AID  - 10.1136/jmg.32.12.942
DP  - 1995 Dec 01
TA  - Journal of Medical Genetics
PG  - 942--945
VI  - 32
IP  - 12
4099  - http://jmg.bmj.com/content/32/12/942.short
4100  - http://jmg.bmj.com/content/32/12/942.full
SO  - J Med Genet1995 Dec 01; 32
AB  - 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.