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

  • Published online on: July 3, 2013     https://doi.org/10.3892/ol.2013.1440
  • Pages: 725-727
Metrics: Total Views: 0 (Spandidos Publications: | PMC Statistics: )
Total PDF Downloads: 0 (Spandidos Publications: | PMC Statistics: )


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.
View Figures
View References

Related Articles

Journal Cover

September 2013
Volume 6 Issue 3

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

Sign up for eToc alerts

Recommend to Library

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