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International Journal of Oncology
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Print ISSN: 1019-6439 Online ISSN: 1791-2423
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Aug 1998 Volume 13 Issue 2

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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.

Biomedical Reports

Biomedical Reports

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.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

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Aug 1998 Volume 13 Issue 2

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Article

Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.

  • Authors:
    • E Garcia-Patińo
    • B Gomendio
    • J M Silva
    • J M Garcia
    • M Provencio
    • R Perez-Carrion
    • P Lianes
    • A Casado
    • P Espańa
    • F Bonilla

  • View Affiliations / Copyright

    Affiliations: Department of Medical Oncology, Clinica Puerta de Hierro, 28035 Madrid, Spain.
  • Pages: 275-284
    |
    Published online on: August 1, 1998
       https://doi.org/10.3892/ijo.13.2.275
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Abstract

Eighty-three families with two or more cases of breast and ovarian cancer were selected to evaluate the prevalence rate of BRCA1 gene mutations, and identify healthy carriers. Blood samples from patients and healthy relatives were obtained. Haplotype study of the 17q21 region using 7 polymorphic markers was performed. Mutational analysis of the coding exons of the BRCA1 gene was performed by the PCR-SSCP method and direct sequencing. We detected germline mutations (frameshift and missense) in 6 families (9.1%). Combining haplotype analysis and PCR-SSCP screening, 18 (15%) healthy female carriers were identified. The prevalence rate of germline BRCA1 gene mutations among our families with breast cancer syndrome is low, and relatives having the same haplotype for the 17q21 region as mutation-carrying patients usually display the same genomic sequence as the patients.

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Copy and paste a formatted citation
Spandidos Publications style
Garcia-Patińo E, Gomendio B, Silva J, Garcia J, Provencio M, Perez-Carrion R, Lianes P, Casado A, Espańa P, Bonilla F, Bonilla F, et al: Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.. Int J Oncol 13: 275-284, 1998.
APA
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R. ... Bonilla, F. (1998). Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.. International Journal of Oncology, 13, 275-284. https://doi.org/10.3892/ijo.13.2.275
MLA
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R., Lianes, P., Casado, A., Espańa, P., Bonilla, F."Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.". International Journal of Oncology 13.2 (1998): 275-284.
Chicago
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R., Lianes, P., Casado, A., Espańa, P., Bonilla, F."Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.". International Journal of Oncology 13, no. 2 (1998): 275-284. https://doi.org/10.3892/ijo.13.2.275
Copy and paste a formatted citation
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Spandidos Publications style
Garcia-Patińo E, Gomendio B, Silva J, Garcia J, Provencio M, Perez-Carrion R, Lianes P, Casado A, Espańa P, Bonilla F, Bonilla F, et al: Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.. Int J Oncol 13: 275-284, 1998.
APA
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R. ... Bonilla, F. (1998). Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.. International Journal of Oncology, 13, 275-284. https://doi.org/10.3892/ijo.13.2.275
MLA
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R., Lianes, P., Casado, A., Espańa, P., Bonilla, F."Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.". International Journal of Oncology 13.2 (1998): 275-284.
Chicago
Garcia-Patińo, E., Gomendio, B., Silva, J., Garcia, J., Provencio, M., Perez-Carrion, R., Lianes, P., Casado, A., Espańa, P., Bonilla, F."Detection of BRCA1 gene mutations in families with breast cancer patients and their healthy relatives.". International Journal of Oncology 13, no. 2 (1998): 275-284. https://doi.org/10.3892/ijo.13.2.275
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