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Article

Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.

Nature - 1 Jan 2000

Srivastava S, Zou Z Q, Pirollo K, Blattner W, Chang E H

Abstract excerpt

Tumour suppressor genes, whose usual function seems to be controlling normal cell proliferation, have been implicated in many inherited and sporadic forms of malignancies Much evidence supports the concept of tumour formation by loss-of-function mutations in suppressor genes, as predicted by the two-hit model of Knudson and DeMars. The suppressor gene, p53, is affected in such a manner by numerous mutations,...

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PMID: 2259385
DOI: 10.1038/348747a0

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NSF

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

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Germ-line transmission of a mutated p53 gene in a cancer-prone family with Li-Fraumeni syndrome.PMID 2259385Read ↗

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Germ-line mutations of the p53 tumor suppressor gene in patients with high risk for cancer inactivate the p53 protein.Semantic proximity Read ↗

Single base pair germ-line deletion in the p53 gene in a cancer predisposed family.Semantic proximity Read ↗

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Li-Fraumeni syndrome fibroblasts homozygous for p53 mutations are deficient in global DNA repair but exhibit normal transcription-coupled repair and enhanced UV resistance.Semantic proximity Read ↗

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