P53 gene mutation inducing hereditary cancer predisposition: case report of Li-Fraumeni syndrome

Authors

DOI:

https://doi.org/10.11606/issn.1679-9836.v81i1-4p42-46

Keywords:

Neoplasms multiple primary/genetics, P53 Protein/genetics, Mutation/genetics.

Abstract

Li-Fraumeni syndrome is a familiar cancer predisposition syndrome characterized by the appearance of various types of tumors, such as sarcomas, breast carcinomas, brain tumors and leukemia. We present the case of a 37-year-old female who had a strong family history of cancer and herself had a history of six different primary tumors (one colon, one displasic nevus, one ovary and three breast tumors). P53 gene sequencing of her peripheral blood lymphocytes revealed an amino acid change of tryptofan (TGG) to a stop-codon (TAG) in the nucleotide 437 of codon 146 of exon 5 of this gene. Clinical, preventive and ethical implications of this molecular finding are also discussed.

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Author Biographies

  • Fernanda Nunes Pinto, Faculdade de Medicina do ABC
    Acadêmica da Faculdade de Medicina do ABC.
  • Fernanda Vilas Boas Prudente, Faculdade de Medicina do ABC
    Acadêmica da Faculdade de Medicina do ABC.
  • Marina Sahade Gonçalves, Faculdade de Medicina do ABC
    Acadêmica da Faculdade de Medicina do ABC.
  • Priscilla Domene Vaccaro Silva, Faculdade de Medicina do ABC
    Acadêmica da Faculdade de Medicina do ABC.
  • Auro Del Giglio, Faculdade de Medicina do ABC
    Titular das Disciplinas de Oncologia e Hematologia da Faculdade de Medicna do ABC (orientador).

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Published

2002-12-20

Issue

Vol. 81 No. 1-4 (2002)

Section

Artigos

How to Cite

Pinto, F. N., Prudente, F. V. B., Gonçalves, M. S., Silva, P. D. V., & Del Giglio, A. (2002). P53 gene mutation inducing hereditary cancer predisposition: case report of Li-Fraumeni syndrome. Revista De Medicina, 81(1-4), 42-46. https://doi.org/10.11606/issn.1679-9836.v81i1-4p42-46