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International Journal of Oncology
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Print ISSN: 1019-6439 Online ISSN: 1791-2423
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April 2010 Volume 36 Issue 4

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International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

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Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

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Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

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Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

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Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

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Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

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Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

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International Journal of Functional Nutrition

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International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

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Article

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

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

  • View Affiliations / Copyright

    Affiliations: Departamento de Patologia Básica, UFPR, Brazil
  • Pages: 983-990
    |
    Published online on: April 1, 2010
       https://doi.org/10.3892/ijo_00000578
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Abstract

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 documentation of the pedigree of an LFS family with a comprehensive analysis of genotype-phenotype correlations. We sequenced the TP53 gene and verified that the proband carries a germline nonsense mutation in codon 146 in one allele, the TP53Arg72Pro polymorphism in the second, and other intronic polymorphisms in the TP53 gene. In order to investigate the disruption of the p53 function in a patient presenting this mutation and the TP53Arg72Pro polymorphism who had so far suffered five malignant tumors and a benign meningioma, we tested her fibroblasts in response to DNA damage by evaluating the proliferation rate, apoptosis, and disruption of the TP53 pathway. The proband's heterozygous fibroblasts were not as efficient as control fibroblasts or those of her mother, who carried only the TP53Arg72Pro polymorphism, in causing cell arrest and cell death after DNA damage, which was correlated with diminished TP21 protein levels.

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Copy and paste a formatted citation
Spandidos Publications style
De Moura J, Kavalec FL, Doghman M, Rosati R, Custodio G, Lalli E, Cavallari GM, Santa Maria J and Figueiredo BC: Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. Int J Oncol 36: 983-990, 2010.
APA
De Moura, J., Kavalec, F.L., Doghman, M., Rosati, R., Custodio, G., Lalli, E. ... Figueiredo, B.C. (2010). Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. International Journal of Oncology, 36, 983-990. https://doi.org/10.3892/ijo_00000578
MLA
De Moura, J., Kavalec, F. L., Doghman, M., Rosati, R., Custodio, G., Lalli, E., Cavallari, G. M., Santa Maria, J., Figueiredo, B. C."Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage". International Journal of Oncology 36.4 (2010): 983-990.
Chicago
De Moura, J., Kavalec, F. L., Doghman, M., Rosati, R., Custodio, G., Lalli, E., Cavallari, G. M., Santa Maria, J., Figueiredo, B. C."Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage". International Journal of Oncology 36, no. 4 (2010): 983-990. https://doi.org/10.3892/ijo_00000578
Copy and paste a formatted citation
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Spandidos Publications style
De Moura J, Kavalec FL, Doghman M, Rosati R, Custodio G, Lalli E, Cavallari GM, Santa Maria J and Figueiredo BC: Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. Int J Oncol 36: 983-990, 2010.
APA
De Moura, J., Kavalec, F.L., Doghman, M., Rosati, R., Custodio, G., Lalli, E. ... Figueiredo, B.C. (2010). Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage. International Journal of Oncology, 36, 983-990. https://doi.org/10.3892/ijo_00000578
MLA
De Moura, J., Kavalec, F. L., Doghman, M., Rosati, R., Custodio, G., Lalli, E., Cavallari, G. M., Santa Maria, J., Figueiredo, B. C."Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage". International Journal of Oncology 36.4 (2010): 983-990.
Chicago
De Moura, J., Kavalec, F. L., Doghman, M., Rosati, R., Custodio, G., Lalli, E., Cavallari, G. M., Santa Maria, J., Figueiredo, B. C."Heterozygous TP53stop146/R72P fibroblasts from a Li-Fraumeni syndrome patient with impaired response to DNA damage". International Journal of Oncology 36, no. 4 (2010): 983-990. https://doi.org/10.3892/ijo_00000578
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