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Clinical and Translational Oncology

, Volume 16, Issue 3, pp 280–284 | Cite as

Association of BRCA1 germline mutations in young onset triple-negative breast cancer (TNBC)

  • R. AndrésEmail author
  • I. Pajares
  • J. Balmaña
  • G. Llort
  • T. Ramón y Cajal
  • I. Chirivella
  • E. Aguirre
  • L. Robles
  • E. Lastra
  • P. Pérez-Segura
  • N. Bosch
  • C. Yagüe
  • E. Lerma
  • J. Godino
  • M. D. Miramar
  • M. Moros
  • P. Astier
  • B. Saez
  • M. J. Vidal
  • A. Arcusa
  • S. Ramón y Cajal
  • M. T. Calvo
  • A. Tres
Research Article

Abstract

Background

BRCA1-associated breast cancers have been associated to a triple-negative phenotype. The prevalence of BRCA1 germline mutations in young onset TNBC based on informativeness of family history has not been reported.

Patients and methods

From January 2008 to May 2009 were collected blood and tumor samples from patients with TNBC younger than 50 years and without a family history of breast and ovarian cancer in first- and second-degree relatives. Analysis of BRCA1 germline mutations was made. Age at diagnosis and informativeness of family history (presence of female in first- and second-degree relatives alive until age 45) was collected in all cases. Immunohistochemistry of basal-like features was performed centrally in all available tumors.

Results

Seven pathogenic mutations were detected in 92 patients (7.6 %), two of them in patients younger than 35 years (28.6 %) (Fisher’s exact test, p = 0.631). Three non-classified variants were detected (3.2 %). Family history was informative in two patients with a pathogenic mutation (28.6 %) and not informative in five (71.4 %) (Fisher’s exact test, p = 0.121). Of the seven patients with a pathogenic mutation, four had a basal-like phenotype.

Conclusion

Patients with apparently sporadic TNBC younger than 50 years and a non-informative family history are candidates for germline genetic testing of BRCA1.

Keywords

Triple negative breast cancer BRCA1 Hereditary breast cancer 

Notes

Conflict of interest

The authors have declared no conflicts of interest.

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Copyright information

© Federación de Sociedades Españolas de Oncología (FESEO) 2013

Authors and Affiliations

  • R. Andrés
    • 1
    Email author
  • I. Pajares
    • 1
  • J. Balmaña
    • 2
  • G. Llort
    • 3
  • T. Ramón y Cajal
    • 4
  • I. Chirivella
    • 5
  • E. Aguirre
    • 6
  • L. Robles
    • 7
  • E. Lastra
    • 8
  • P. Pérez-Segura
    • 9
  • N. Bosch
    • 2
  • C. Yagüe
    • 3
  • E. Lerma
    • 4
  • J. Godino
    • 10
  • M. D. Miramar
    • 11
  • M. Moros
    • 1
  • P. Astier
    • 12
  • B. Saez
    • 10
  • M. J. Vidal
    • 13
  • A. Arcusa
    • 3
  • S. Ramón y Cajal
    • 1
  • M. T. Calvo
    • 11
  • A. Tres
    • 1
  1. 1.Servicio de Oncología Médica, Hospital Clínico Lozano BlesaZaragozaSpain
  2. 2.Hospital Vall d′Hebron de BarcelonaBarcelonaSpain
  3. 3.Instituto Oncológic del VallésCataloniaSpain
  4. 4.Hospital de la Santa Creu y San Pau de BarcelonaBarcelonaSpain
  5. 5.Hospital Clínico de ValenciaValenciaSpain
  6. 6.Hospital Arnau de Vilanova de LéridaLleidaSpain
  7. 7.Hospital Universitario 12 de OctubreMadridSpain
  8. 8.Hospital G. Yagüe de BurgosBurgosSpain
  9. 9.Hospital Clínico San Carlos de MadridMadridSpain
  10. 10.Aragon Health Science InstituteZaragozaSpain
  11. 11.Hospital Universitario Miguel ServetZaragozaSpain
  12. 12.Centro de Salud San PabloZaragozaSpain
  13. 13.Hospital Valle HebronBarcelonaSpain

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