AN EXTENDED LI-FRAUMENI KINDRED WITH GASTRIC-CARCINOMA AND A CODON-175 MUTATION IN TP53

Authors
VARLEY JM MCGOWN G THORNCROFT M TRICKER KJ TEARE MD SANTIBANEZKOREF MF HOULSTON RS MARTIN J BIRCH JM EVANS DGR
Citation
Jm. Varley et al., AN EXTENDED LI-FRAUMENI KINDRED WITH GASTRIC-CARCINOMA AND A CODON-175 MUTATION IN TP53, Journal of Medical Genetics, 32(12), 1995, pp. 942-945
Citations number
29
Categorie Soggetti
Genetics & Heredity
Journal title
Journal of Medical Genetics → ACNP
ISSN journal
00222593
Volume
32
Issue
12
Year of publication
1995
Pages
942 - 945
Database
ISI
SICI code
0022-2593(1995)32:12<942:AELKWG>2.0.ZU;2-O
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 tu mours analysed showed loss of the wild type allele. A codon 175 missen se mutation was identified in exon 5 in all available affected subject s. Counselling, screening, and issues surrounding presymptomatic testi ng are discussed.