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Article

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

Journal of medical genetics - 1 Dec 1995

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

Abstract excerpt

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...

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Identifiers

PMID: 8825920
DOI: 10.1136/jmg.32.12.942
PMCID: PMC1051773

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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