Please use this identifier to cite or link to this item: https://www.arca.fiocruz.br/handle/icict/29513
Title: TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma
Authors: Andrade, Raissa C.
Lima, Maria A. F. D. de
Faria, Paulo A .S. de
Vargas, Fernando R.
Affilliation: Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil.
Universidade UnigranRio. Programa de Estágio em Genética. Rio de Janeiro, RJ, Brasil.
Instituto Nacional de Câncer. Divisão de Patologia. Rio de Janeiro, RJ, Brasil.
Instituto Nacional de Câncer. Divisão de Genética. Rio de Janeiro, RJ, Brasil / Universidade Federal do Rio de Janeiro. Departamento de Genética e Biologia Molecular. Rio de Janeiro, RJ, Brasil / Fundação Oswaldo Cruz. Instituto Oswaldo Cruz. Laboratório de Epidemiologia de Malformações Congênitas. Rio de Janeiro, RJ, Brasil.
Abstract: Li-Fraumeni syndrome is a rare hereditary cancer predisposition syndrome associated with germline pathogenic variants in TP53 gene. The phenotype may vary from classical to variant forms, known as Li-Fraumeni-like phenotypes. We searched for pathogenic variants in TP53 in a 14 year-old female diagnosed with fibrolamellar hepatocellular carcinoma, a rare subtype of hepatocellular carcinoma. The proband is a heterozygote carrier of the TP53 c.467G>A (p.Arg156His) in exon 5, and her mother is an asymptomatic carrier. Analysis of tumor DNA disclosed an additional somatic mutation in TP53, c.461G>A; p.Gly154Asp. The TP53 germline and somatic pathogenic variants may have acted as possible driver mutations, resulting in genomic instability and tumor development. The fibrolamellar subtype of hepatocellular carcinoma may be part of the broad spectrum of tumors associated with Li-Fraumeni phenotype.
Keywords: Li-Fraumeni syndrome
Li-Fraumeni-like syndrome
Fibrolamellar hepatocellular carcinoma
TP53 gene
keywords: Carcinoma hepatocelular fibrilamelar
Genes p53
DeCS: Genes p53
Síndrome de Li-Fraumeni
Issue Date: 2018
Publisher: Springer Verlag (Germany)
Citation: ANDRADE, Raíssa C. et al. TP53 germline and somatic mutations in a patient with fibrolamellar hepatocellular carcinoma. Familial Cancer, v.17, p.119-122, May 2018.
DOI: 10.1007/s10689-017-9998-5
ISSN: 1389-9600
Copyright: restricted access
Appears in Collections:IOC - Artigos de Periódicos

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