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Article

Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.

International journal of oncology - 1 Apr 2010

De Moura Juliana, Kavalec Flávia Ludimila, Doghman Mabrouka, Rosati Roberto, Custodio Gislaine, Lalli Enzo, Cavallari Glaci Moura D, Santa Maria Jesus, Figueiredo Bonald C

Abstract excerpt

The Li-Fraumeni syndrome (LFS) is a rare autosomal dominant hereditary cancer syndrome, characterized by a wide spectrum of neoplasms, occurring in children and young adults. The identification of germline TP53 mutations in LFS has given rise to a number of in vitro studies using cultures of cancer cells and non-tumoral fibroblasts presenting germline TP53 mutations. In the present study, we performed a detailed...

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PMID: 20198344
DOI: 10.3892/ijo_00000578

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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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Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage.PMID 20198344Read ↗

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The function of a heterozygous p53 mutation in a Li-Fraumeni syndrome patient.Semantic proximity Read ↗

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