RT Journal Article
T1 BRCA2 gene mutations and coagulation-associated biomarkers
A1 Pérez Segura, Pedro
A1 Zamorano León, José Javier
A1 Acosta, Daniel
A1 Santos Sancho, Juana María
A1 Modrego, Javier
A1 Caldés, Trinidad
A1 de la Hoya, Miguel
A1 Díaz-Rubio García, Eduardo
A1 Díaz Millán, Isabel
A1 Heras Jiménez, Natalia De Las
A1 Rico Zalba, Luis
A1 Lahera Julia, Vicente
A1 Melander, Olle
A1 López Farre, Antonio José
AB 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 non-mutant 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.
PB Thieme Gruppe
SN 0340-6245
YR 2015
FD 2015-07-01
LK https://hdl.handle.net/20.500.14352/99272
UL https://hdl.handle.net/20.500.14352/99272
LA eng
NO Perez-Segura P, Zamorano-León JJ, Acosta D, Santos-Sancho JM, Modrego J, Caldés T, de la Hoya M, Díaz-Rubio E, Díaz-Millán I, de Las Heras N, Rico Zalba LA, Lahera V, Melander O, López Farré A. BRCA2 gene mutations and coagulation-associated biomarkers. Thromb Haemost. 2016 Jan;115(2):415-23. doi: 10.1160/TH15-06-0520. Epub 2015 Oct 8. PMID: 26446551.
NO Sociedad Española de Oncología
NO Fondo Europeo de Desarrollo Regional
DS Docta Complutense
RD 10 abr 2025