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Article

A germ line mutation in exon 5 of the p53 gene in an extended cancer family.

Cancer research - 1 Dec 1991

Law J C, Strong L C, Chidambaram A, Ferrell R E

Abstract excerpt

Germ line p53 point mutations have been reported for some families with Li-Fraumeni syndrome, a syndrome characterized by a dominantly inherited increased susceptibility for the development of early age of onset neoplasms of diverse origin in multiple family members. All of the initially reported p53 germ line mutations have been found exclusively within a single conserved, nonpolymorphic region of the gene...

Topics

Adult
Base Sequence
Disease Susceptibility
Exons
Family Health
Female
Genes, p53
Genetic Carrier Screening
Humans
Infant
Li-Fraumeni Syndrome
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Source

Identifiers

PMID: 1933902

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1933902-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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A germ line mutation in exon 5 of the p53 gene in an extended cancer family.PMID 1933902Read ↗

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