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A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation

  • Authors:
    • Josefa Salgado
    • José M. Aramendía
    • Cristina Gutiérrez
    • Carmen Gil
    • Maitane Robles
    • Jesús García-Foncillas

  • View Affiliations

  • Published online on: June 22, 2011     https://doi.org/10.3892/ol.2011.328
  • Pages: 807-809
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Abstract

We report a novel BRCA1 germline 4156delAA mutation detected in a 41-year-old woman with breast and ovarian cancer. Genomic DNA was obtained from peripheral blood. Standard polymerase chain reactions and direct sequencing were performed. This mutation originates a premature stop at codon 1354 of BRCA1 protein and has not been documented in any published report to the best of our knowledge. The mutation was not observed in any other family studied. Since this novel mutation was associated with both breast and ovarian cancer, the genotype-phenotype correlation was investigated in a patient base of 30 families.

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September-October 2011
Volume 2 Issue 5

Print ISSN: 1792-1074
Online ISSN:1792-1082

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  • Journal Metrics
  • Impact Factor: 2.9
  • Ranked Oncology
    (total number of cites)
  • CiteScore: 6.3
  • CiteScore Rank: Q2: #119/366 Oncology
  • Source Normalized Impact per Paper (SNIP): 0.725
  • SCImago Journal Rank (SJR): 0.639
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Spandidos Publications style
Salgado J, Aramendía JM, Gutiérrez C, Gil C, Robles M and García-Foncillas J: A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation. Oncol Lett 2: 807-809, 2011
APA
Salgado, J., Aramendía, J.M., Gutiérrez, C., Gil, C., Robles, M., & García-Foncillas, J. (2011). A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation. Oncology Letters, 2, 807-809. https://doi.org/10.3892/ol.2011.328
MLA
Salgado, J., Aramendía, J. M., Gutiérrez, C., Gil, C., Robles, M., García-Foncillas, J."A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation". Oncology Letters 2.5 (2011): 807-809.
Chicago
Salgado, J., Aramendía, J. M., Gutiérrez, C., Gil, C., Robles, M., García-Foncillas, J."A novel mutation in BRCA1 linked to breast and ovarian cancer and a genotype-phenotype correlation". Oncology Letters 2, no. 5 (2011): 807-809. https://doi.org/10.3892/ol.2011.328