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Page 1
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium. Whiley PJ, et al. Among authors: blanco a. Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8. Clin Chem. 2014. PMID: 24212087 Free PMC article.
The average cumulative risks of breast and ovarian cancer for carriers of mutations in BRCA1 and BRCA2 attending genetic counseling units in Spain.
Milne RL, Osorio A, Cajal TR, Vega A, Llort G, de la Hoya M, Díez O, Alonso MC, Lazaro C, Blanco I, Sánchez-de-Abajo A, Caldés T, Blanco A, Graña B, Durán M, Velasco E, Chirivella I, Cardeñosa EE, Tejada MI, Beristain E, Miramar MD, Calvo MT, Martínez E, Guillén C, Salazar R, San Román C, Antoniou AC, Urioste M, Benítez J. Milne RL, et al. Among authors: blanco a, blanco i. Clin Cancer Res. 2008 May 1;14(9):2861-9. doi: 10.1158/1078-0432.CCR-07-4436. Clin Cancer Res. 2008. PMID: 18451254
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Milne RL, Osorio A, Ramón y Cajal T, Baiget M, Lasa A, Diaz-Rubio E, de la Hoya M, Caldés T, Teulé A, Lázaro C, Blanco I, Balmaña J, Sánchez-Ollé G, Vega A, Blanco A, Chirivella I, Esteban Cardeñosa E, Durán M, Velasco E, Martínez de Dueñas E, Tejada MI, Miramar MD, Calvo MT, Guillén-Ponce C, Salazar R, San Román C, Urioste M, Benítez J. Milne RL, et al. Among authors: blanco a, blanco i. Breast Cancer Res Treat. 2010 Jan;119(1):221-32. doi: 10.1007/s10549-009-0394-1. Epub 2009 Apr 16. Breast Cancer Res Treat. 2010. PMID: 19370414 Free article.
International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.
Peixoto A, Santos C, Pinheiro M, Pinto P, Soares MJ, Rocha P, Gusmão L, Amorim A, van der Hout A, Gerdes AM, Thomassen M, Kruse TA, Cruger D, Sunde L, Bignon YJ, Uhrhammer N, Cornil L, Rouleau E, Lidereau R, Yannoukakos D, Pertesi M, Narod S, Royer R, Costa MM, Lazaro C, Feliubadaló L, Graña B, Blanco I, de la Hoya M, Caldés T, Maillet P, Benais-Pont G, Pardo B, Laitman Y, Friedman E, Velasco EA, Durán M, Miramar MD, Valle AR, Calvo MT, Vega A, Blanco A, Diez O, Gutiérrez-Enríquez S, Balmaña J, Ramon y Cajal T, Alonso C, Baiget M, Foulkes W, Tischkowitz M, Kyle R, Sabbaghian N, Ashton-Prolla P, Ewald IP, Rajkumar T, Mota-Vieira L, Giannini G, Gulino A, Achatz MI, Carraro DM, de Paillerets BB, Remenieras A, Benson C, Casadei S, King MC, Teugels E, Teixeira MR. Peixoto A, et al. Among authors: blanco a, blanco i. Breast Cancer Res Treat. 2011 Jun;127(3):671-9. doi: 10.1007/s10549-010-1036-3. Epub 2010 Jul 22. Breast Cancer Res Treat. 2011. PMID: 20652400 Free article.
Germline ATM mutational analysis in BRCA1/BRCA2 negative hereditary breast cancer families by MALDI-TOF mass spectrometry.
Graña B, Fachal L, Darder E, Balmaña J, Ramón Y Cajal T, Blanco I, Torres A, Lázaro C, Diez O, Alonso C, Santamariña M, Velasco A, Teulé A, Lasa A, Blanco A, Izquierdo A, Borràs J, Gutiérrez-Enríquez S, Vega A, Brunet J. Graña B, et al. Among authors: blanco a, blanco i. Breast Cancer Res Treat. 2011 Jul;128(2):573-9. doi: 10.1007/s10549-011-1462-x. Epub 2011 Mar 29. Breast Cancer Res Treat. 2011. PMID: 21445571
Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Thomassen M, Blanco A, Montagna M, Hansen TV, Pedersen IS, Gutiérrez-Enríquez S, Menéndez M, Fachal L, Santamariña M, Steffensen AY, Jønson L, Agata S, Whiley P, Tognazzo S, Tornero E, Jensen UB, Balmaña J, Kruse TA, Goldgar DE, Lázaro C, Diez O, Spurdle AB, Vega A. Thomassen M, et al. Among authors: blanco a. Breast Cancer Res Treat. 2012 Apr;132(3):1009-23. doi: 10.1007/s10549-011-1674-0. Epub 2011 Jul 19. Breast Cancer Res Treat. 2012. PMID: 21769658
ENIGMA--evidence-based network for the interpretation of germline mutant alleles: an international initiative to evaluate risk and clinical significance associated with sequence variation in BRCA1 and BRCA2 genes.
Spurdle AB, Healey S, Devereau A, Hogervorst FB, Monteiro AN, Nathanson KL, Radice P, Stoppa-Lyonnet D, Tavtigian S, Wappenschmidt B, Couch FJ, Goldgar DE; ENIGMA. Spurdle AB, et al. Hum Mutat. 2012 Jan;33(1):2-7. doi: 10.1002/humu.21628. Epub 2011 Nov 3. Hum Mutat. 2012. PMID: 21990146 Free PMC article.
Shorter telomere length is associated with increased ovarian cancer risk in both familial and sporadic cases.
Martinez-Delgado B, Yanowsky K, Inglada-Perez L, de la Hoya M, Caldes T, Vega A, Blanco A, Martin T, Gonzalez-Sarmiento R, Blasco M, Robledo M, Urioste M, Song H, Pharoah P, Benitez J. Martinez-Delgado B, et al. Among authors: blanco a. J Med Genet. 2012 May;49(5):341-4. doi: 10.1136/jmedgenet-2012-100807. Epub 2012 Apr 6. J Med Genet. 2012. PMID: 22493152
1,440 results