BRCA2 gene mutations and coagulation-associated biomarkers

Research output: Contribution to journalArticle


Thromboembolic events are the second cause of death in cancer patients, although the mechanisms underlying this increased thromboembolic risk remain unclear. The aims of this study were to examine whether BRCA2 gene mutations may modify the circulating levels of thrombocoagulation biomarkers and whether breast cancer development may influence changes in such circulating biomarkers. The study was performed in 25 women with mutations in the BRCA2 gene (n=12 breast cancer, n=13 breast cancer-free) and in 13 BRCA2 nonmutant controls. Results revealed that plasma levels of fibrinogen gamma chain isotypes 2 and 3, haptoglobin isotypes 4 and 5, serotransferrin isotypes 3 and 4 and convertase C3/C5 isotypes 4 and 5 were significantly higher in BRCA2 mutation carriers compared to controls. However, plasma levels of vitamin D binding protein isotype 1 and alpha1-antitrypsin isotypes 2, 3 and 4 were significantly decreased in BRCA2 mutation carriers compared to controls. Plasma expression of PF4 and P-selectin was significantly higher in BRCA2 mutations carriers than in controls. BRCA2 truncated mutations conserving a binding region for RAD51 were associated with increased plasma levels of alpha1-antitrypsin isotypes 3 and 4 with respect to women showing BRCA2 mutations that loss the binding RD51 region to BRCA2. Only plasma levels of vitamin D binding protein isotypes 1 and 3 were significantly reduced and alpha 1-antitrypsin isotype 1 was increased in cancer-free BRCA2 mutation carriers compared to BRCA2 mutation carriers with breast cancer. The presence of BRCA2 mutations is associated with increased plasma levels of thrombo-coagulating- related proteins, which are independent to breast cancer development.


  • Pedro Perez-Segura
  • José J. Zamorano-León
  • Daniel Acosta
  • Juana María Santos-Sancho
  • Javier Modrego
  • Trinidad Caldés
  • Miguel De La Hoya
  • Eduardo Díaz-Rubio
  • Isabel Díaz-Millán
  • Natalia De Las Heras
  • Luis Alfonso Rico Zalba
  • Vicente Lahera
  • Olle Melander
  • Antonio López Farré
External organisations
  • Hospital Clinico San Carlos de Madrid
  • Hospital Fundación Jiménez Díaz
  • Complutense University of Madrid
Research areas and keywords

Subject classification (UKÄ) – MANDATORY

  • Cancer and Oncology
  • Medical Genetics


  • BRCA2 mutations, Breast cancer, Coagulation, Thrombosis
Original languageEnglish
Pages (from-to)415-423
Number of pages9
JournalThrombosis and Haemostasis
Issue number2
Publication statusPublished - 2016
Publication categoryResearch