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Molecular and Clinical Oncology
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Print ISSN: 2049-9450 Online ISSN: 2049-9469
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March-2018 Volume 8 Issue 3

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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.

Molecular Medicine Reports

Molecular Medicine Reports

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

Experimental and Therapeutic Medicine

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

Oncology Letters

Oncology Letters

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

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Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

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

World Academy of Sciences Journal

World Academy of Sciences Journal

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

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International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through 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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Case Report

Novel BRAF mutation in melanoma: A case report

  • Authors:
    • Serena Trubini
    • Alessandro Ubiali
    • Carlo Terenzio Paties
    • Luigi Cavanna
  • View Affiliations / Copyright

    Affiliations: Onco‑Hematologic Department, Ospedale Guglielmo da Saliceto, I‑49‑29121 Piacenza, Italy
  • Pages: 460-462
    |
    Published online on: January 12, 2018
       https://doi.org/10.3892/mco.2018.1555
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Abstract

In melanoma, a number of specific genetic and genomic aberrations have been identified to be important in tumorigenesis. In particular, the mutant B‑Raf proto‑oncogene, Serine/Threonine kinase (BRAF) gene is the target of tailored therapy with kinase inhibitor molecules. Identification of the array of mutations in patients with melanoma will be useful in determining a genetic profile of the tumor with potential implications for treatment decisions. A rare aminoacidic insertion in codon 599 of the BRAF gene (c.1797_1798insACA, T599insT) was detected by using both direct (Sanger) sequencing and pyrosequencing techniques in a metastatic melanoma of a female elderly patient. As suggested in other clinical contexts including pilocytic astrocytoma, papillary thyroid carcinomas and anaplastic thyroid carcinomas, this unusual mutation may be associated with a modified spatial structure of activated P‑loop, resulting in a constitutional activation of the BRAF protein. The patient died shortly following the test, thus no biological therapy was performed. Comparable data regarding treatment of melanoma patients with rare BRAF mutations is lacking, and the response to BRAF inhibitors requires further investigation.
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Copy and paste a formatted citation
Spandidos Publications style
Trubini S, Ubiali A, Paties CT and Cavanna L: Novel BRAF mutation in melanoma: A case report. Mol Clin Oncol 8: 460-462, 2018.
APA
Trubini, S., Ubiali, A., Paties, C.T., & Cavanna, L. (2018). Novel BRAF mutation in melanoma: A case report. Molecular and Clinical Oncology, 8, 460-462. https://doi.org/10.3892/mco.2018.1555
MLA
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8.3 (2018): 460-462.
Chicago
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8, no. 3 (2018): 460-462. https://doi.org/10.3892/mco.2018.1555
Copy and paste a formatted citation
x
Spandidos Publications style
Trubini S, Ubiali A, Paties CT and Cavanna L: Novel BRAF mutation in melanoma: A case report. Mol Clin Oncol 8: 460-462, 2018.
APA
Trubini, S., Ubiali, A., Paties, C.T., & Cavanna, L. (2018). Novel BRAF mutation in melanoma: A case report. Molecular and Clinical Oncology, 8, 460-462. https://doi.org/10.3892/mco.2018.1555
MLA
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8.3 (2018): 460-462.
Chicago
Trubini, S., Ubiali, A., Paties, C. T., Cavanna, L."Novel BRAF mutation in melanoma: A case report". Molecular and Clinical Oncology 8, no. 3 (2018): 460-462. https://doi.org/10.3892/mco.2018.1555
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