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Page 1
POT1 and Damage Response Malfunction Trigger Acquisition of Somatic Activating Mutations in the VEGF Pathway in Cardiac Angiosarcomas.
Calvete O, Garcia-Pavia P, Domínguez F, Mosteiro L, Pérez-Cabornero L, Cantalapiedra D, Zorio E, Ramón Y Cajal T, Crespo-Leiro MG, Teulé Á, Lázaro C, Morente MM, Urioste M, Benitez J. Calvete O, et al. Among authors: perez cabornero l. J Am Heart Assoc. 2019 Sep 17;8(18):e012875. doi: 10.1161/JAHA.119.012875. Epub 2019 Sep 12. J Am Heart Assoc. 2019. PMID: 31510873 Free PMC article.
Almost 2% of Spanish breast cancer families are associated to germline pathogenic mutations in the ATM gene.
Tavera-Tapia A, Pérez-Cabornero L, Macías JA, Ceballos MI, Roncador G, de la Hoya M, Barroso A, Felipe-Ponce V, Serrano-Blanch R, Hinojo C, Miramar-Gallart MD, Urioste M, Caldés T, Santillan-Garzón S, Benitez J, Osorio A. Tavera-Tapia A, et al. Among authors: perez cabornero l. Breast Cancer Res Treat. 2017 Feb;161(3):597-604. doi: 10.1007/s10549-016-4058-7. Epub 2016 Dec 2. Breast Cancer Res Treat. 2017. PMID: 27913932
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Borràs E, Pineda M, Blanco I, Jewett EM, Wang F, Teulé A, Caldés T, Urioste M, Martínez-Bouzas C, Brunet J, Balmaña J, Torres A, Ramón y Cajal T, Sanz J, Pérez-Cabornero L, Castellví-Bel S, Alonso A, Lanas A, González S, Moreno V, Gruber SB, Rosenberg NA, Mukherjee B, Lázaro C, Capellá G. Borràs E, et al. Among authors: perez cabornero l. Cancer Res. 2010 Oct 1;70(19):7379-91. doi: 10.1158/0008-5472.CAN-10-0570. Epub 2010 Sep 21. Cancer Res. 2010. PMID: 20858721 Free article.
BRCA1 5272-1G>A and BRCA2 5374delTATG are founder mutations of high relevance for genetic counselling in breast/ovarian cancer families of Spanish origin.
Infante M, Durán M, Acedo A, Pérez-Cabornero L, Sanz DJ, García-González M, Beristain E, Esteban-Cardeñosa E, de la Hoya M, Teulé A, Vega A, Tejada MI, Lastra E, Miner C, Velasco EA. Infante M, et al. Clin Genet. 2010 Jan;77(1):60-9. doi: 10.1111/j.1399-0004.2009.01272.x. Epub 2009 Nov 2. Clin Genet. 2010. PMID: 19912264 Free article.
Two founder BRCA2 mutations predispose to breast cancer in young women.
Infante M, Durán M, Lasa A, Acedo A, de la Hoya M, Esteban-Cardeñosa E, Sanz DJ, Pérez-Cabornero L, Lastra E, Miner C, Velasco EA. Infante M, et al. Breast Cancer Res Treat. 2010 Jul;122(2):567-71. doi: 10.1007/s10549-009-0661-1. Epub 2009 Dec 1. Breast Cancer Res Treat. 2010. PMID: 19949853 Free article.
Characterization of new founder Alu-mediated rearrangements in MSH2 gene associated with a Lynch syndrome phenotype.
Pérez-Cabornero L, Borrás Flores E, Infante Sanz M, Velasco Sampedro E, Acedo Becares A, Lastra Aras E, Cuevas González J, Pineda Riu M, Ramón y Cajal Asensio T, Capellá Munar G, Miner Pino C, Durán Domínguez M. Pérez-Cabornero L, et al. Cancer Prev Res (Phila). 2011 Oct;4(10):1546-55. doi: 10.1158/1940-6207.CAPR-11-0227. Epub 2011 Jul 21. Cancer Prev Res (Phila). 2011. PMID: 21778331 Free article.
Frequency of rearrangements in Lynch syndrome cases associated with MSH2: characterization of a new deletion involving both EPCAM and the 5' part of MSH2.
Pérez-Cabornero L, Infante Sanz M, Velasco Sampedro E, Lastra Aras E, Acedo Becares A, Miner Pino C, Durán Domínguez M. Pérez-Cabornero L, et al. Cancer Prev Res (Phila). 2011 Oct;4(10):1556-62. doi: 10.1158/1940-6207.CAPR-11-0080. Epub 2011 Jul 26. Cancer Prev Res (Phila). 2011. PMID: 21791569 Free article.
15 results