BRCA2 gene mutations and coagulation-associated biomarkers

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BRCA2 gene mutations and coagulation-associated biomarkers. / Perez-Segura, Pedro; Zamorano-León, José J.; Acosta, Daniel; Santos-Sancho, Juana María; Modrego, Javier; Caldés, Trinidad; De La Hoya, Miguel; Díaz-Rubio, Eduardo; Díaz-Millán, Isabel; De Las Heras, Natalia; Zalba, Luis Alfonso Rico; Lahera, Vicente; Melander, Olle; Farré, Antonio López.

I: Thrombosis and Haemostasis, Vol. 115, Nr. 2, 2016, s. 415-423.

Forskningsoutput: TidskriftsbidragArtikel i vetenskaplig tidskrift

Harvard

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, Zalba, LAR, Lahera, V, Melander, O & Farré, AL 2016, 'BRCA2 gene mutations and coagulation-associated biomarkers', Thrombosis and Haemostasis, vol. 115, nr. 2, s. 415-423. https://doi.org/10.1160/TH15-06-0520

APA

Perez-Segura, P., Zamorano-León, J. J., Acosta, D., Santos-Sancho, J. M., Modrego, J., Caldés, T., ... Farré, A. L. (2016). BRCA2 gene mutations and coagulation-associated biomarkers. Thrombosis and Haemostasis, 115(2), 415-423. https://doi.org/10.1160/TH15-06-0520

CBE

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, Zalba LAR, Lahera V, Melander O, Farré AL. 2016. BRCA2 gene mutations and coagulation-associated biomarkers. Thrombosis and Haemostasis. 115(2):415-423. https://doi.org/10.1160/TH15-06-0520

MLA

Vancouver

Perez-Segura P, Zamorano-León JJ, Acosta D, Santos-Sancho JM, Modrego J, Caldés T et al. BRCA2 gene mutations and coagulation-associated biomarkers. Thrombosis and Haemostasis. 2016;115(2):415-423. https://doi.org/10.1160/TH15-06-0520

Author

Perez-Segura, Pedro ; Zamorano-León, José J. ; Acosta, Daniel ; Santos-Sancho, Juana María ; Modrego, Javier ; Caldés, Trinidad ; De La Hoya, Miguel ; Díaz-Rubio, Eduardo ; Díaz-Millán, Isabel ; De Las Heras, Natalia ; Zalba, Luis Alfonso Rico ; Lahera, Vicente ; Melander, Olle ; Farré, Antonio López. / BRCA2 gene mutations and coagulation-associated biomarkers. I: Thrombosis and Haemostasis. 2016 ; Vol. 115, Nr. 2. s. 415-423.

RIS

TY - JOUR

T1 - BRCA2 gene mutations and coagulation-associated biomarkers

AU - Perez-Segura, Pedro

AU - Zamorano-León, José J.

AU - Acosta, Daniel

AU - Santos-Sancho, Juana María

AU - Modrego, Javier

AU - Caldés, Trinidad

AU - De La Hoya, Miguel

AU - Díaz-Rubio, Eduardo

AU - Díaz-Millán, Isabel

AU - De Las Heras, Natalia

AU - Zalba, Luis Alfonso Rico

AU - Lahera, Vicente

AU - Melander, Olle

AU - Farré, Antonio López

PY - 2016

Y1 - 2016

N2 - 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.

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 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.

KW - BRCA2 mutations

KW - Breast cancer

KW - Coagulation

KW - Thrombosis

U2 - 10.1160/TH15-06-0520

DO - 10.1160/TH15-06-0520

M3 - Article

VL - 115

SP - 415

EP - 423

JO - Thrombosis et diathesis haemorrhagica

T2 - Thrombosis et diathesis haemorrhagica

JF - Thrombosis et diathesis haemorrhagica

SN - 0340-6245

IS - 2

ER -