Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.

  • Authors:
    • V Laplace-Marieze
    • N Presneau
    • V Sylvain
    • F Kwiatkowski
    • A Lortholary
    • A Hardouin
    • Y J Bignon
  • View Affiliations

  • Published online on: May 1, 1999     https://doi.org/10.3892/ijo.14.5.971
  • Pages: 971-978
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Abstract

Seventy French high-risk families were screened for germ-line BRCA-1 mutations. The BRCA-1 coding region and the exon-intron boundaries were sequenced, except when pre-screening by PTT revealed a truncated protein in exon 11. Germ-line BRCA-1 mutations were detected in 24% of families. The number of breast and ovarian cancers per family, a relative young age at ovarian cancer diagnosis, and the occurrence of breast and ovarian cancer in the same patient significantly predicted the presence of a BRCA-1 mutation. The low BRCA-1 mutation frequency suggested that some alterations were not detected and some families were probably BRCA-2 or BRCAx carriers.

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May 1999
Volume 14 Issue 5

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

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APA
Laplace-Marieze, V., Presneau, N., Sylvain, V., Kwiatkowski, F., Lortholary, A., Hardouin, A., & Bignon, Y. (1999). Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.. International Journal of Oncology, 14, 971-978. https://doi.org/10.3892/ijo.14.5.971
MLA
Laplace-Marieze, V., Presneau, N., Sylvain, V., Kwiatkowski, F., Lortholary, A., Hardouin, A., Bignon, Y."Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.". International Journal of Oncology 14.5 (1999): 971-978.
Chicago
Laplace-Marieze, V., Presneau, N., Sylvain, V., Kwiatkowski, F., Lortholary, A., Hardouin, A., Bignon, Y."Systematic sequencing of the BRCA-1 coding region for germ-line mutation detection in 70 French high-risk families.". International Journal of Oncology 14, no. 5 (1999): 971-978. https://doi.org/10.3892/ijo.14.5.971