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

  • Published online on: August 1, 1998     https://doi.org/10.3892/ijo.13.2.275
  • Pages: 275-284
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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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Aug 1998
Volume 13 Issue 2

Print ISSN: 1019-6439
Online ISSN:1791-2423

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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