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Oncology Letters
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Print ISSN: 1792-1074 Online ISSN: 1792-1082
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September 2013 Volume 6 Issue 3

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Journals

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

Oncology Reports

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.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

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

A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report

  • Authors:
    • Josefa Salgado
    • Marta Santisteban
    • Cristina Gutiérrez
    • Carmen Gil
    • Maitane Robles
    • Adriana Viedma
    • Ana Patiño-García

  • View Affiliations / Copyright

    Affiliations: Clinical Genetics Unit, University Clinic of Navarra (CUN), Pamplona, Navarra 31008, Spain, Department of Oncology, University Clinic of Navarra (CUN), Pamplona, Navarra 31008, Spain
  • Pages: 725-727
    |
    Published online on: July 3, 2013
       https://doi.org/10.3892/ol.2013.1440
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Abstract

Germline mutations in the human breast cancer genes BRCA1 and BRCA2 account for a substantial proportion of familial, early-onset breast and ovarian cancers. The present study reports a novel disease-causing BRCA1 mutation, nucleotide 3020insCT/c.2901insCT, in a 55-year-old Spanish female with breast and ovarian cancer. This frameshift mutation creates a premature stop codon at amino acid 1000, leading to a truncated BRCA1 protein. To the best of our knowledge, this mutation has not been previously described in the Breast Cancer Information Core (BIC) database or the published literature.
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Copy and paste a formatted citation
Spandidos Publications style
Salgado J, Santisteban M, Gutiérrez C, Gil C, Robles M, Viedma A and Patiño-García A: A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncol Lett 6: 725-727, 2013.
APA
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., & Patiño-García, A. (2013). A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncology Letters, 6, 725-727. https://doi.org/10.3892/ol.2013.1440
MLA
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., Patiño-García, A."A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report". Oncology Letters 6.3 (2013): 725-727.
Chicago
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., Patiño-García, A."A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report". Oncology Letters 6, no. 3 (2013): 725-727. https://doi.org/10.3892/ol.2013.1440
Copy and paste a formatted citation
x
Spandidos Publications style
Salgado J, Santisteban M, Gutiérrez C, Gil C, Robles M, Viedma A and Patiño-García A: A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncol Lett 6: 725-727, 2013.
APA
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., & Patiño-García, A. (2013). A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report. Oncology Letters, 6, 725-727. https://doi.org/10.3892/ol.2013.1440
MLA
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., Patiño-García, A."A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report". Oncology Letters 6.3 (2013): 725-727.
Chicago
Salgado, J., Santisteban, M., Gutiérrez, C., Gil, C., Robles, M., Viedma, A., Patiño-García, A."A novel BRCA1 mutation in a patient with breast and ovarian cancer: A case report". Oncology Letters 6, no. 3 (2013): 725-727. https://doi.org/10.3892/ol.2013.1440
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