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Results of multigene panel testing in familial cancer cases without genetic cause demonstrated by single gene testing.
Dominguez-Valentin M, Nakken S, Tubeuf H, Vodak D, Ekstrøm PO, Nissen AM, Morak M, Holinski-Feder E, Holth A, Capella G, Davidson B, Evans DG, Martins A, Møller P, Hovig E. Dominguez-Valentin M, et al. Among authors: capella g. Sci Rep. 2019 Dec 6;9(1):18555. doi: 10.1038/s41598-019-54517-z. Sci Rep. 2019. PMID: 31811167 Free PMC article.
Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer.
Maxwell CA, Benítez J, Gómez-Baldó L, Osorio A, Bonifaci N, Fernández-Ramires R, Costes SV, Guinó E, Chen H, Evans GJ, Mohan P, Català I, Petit A, Aguilar H, Villanueva A, Aytes A, Serra-Musach J, Rennert G, Lejbkowicz F, Peterlongo P, Manoukian S, Peissel B, Ripamonti CB, Bonanni B, Viel A, Allavena A, Bernard L, Radice P, Friedman E, Kaufman B, Laitman Y, Dubrovsky M, Milgrom R, Jakubowska A, Cybulski C, Gorski B, Jaworska K, Durda K, Sukiennicki G, Lubiński J, Shugart YY, Domchek SM, Letrero R, Weber BL, Hogervorst FB, Rookus MA, Collee JM, Devilee P, Ligtenberg MJ, Luijt RB, Aalfs CM, Waisfisz Q, Wijnen J, Roozendaal CE; HEBON; EMBRACE; Easton DF, Peock S, Cook M, Oliver C, Frost D, Harrington P, Evans DG, Lalloo F, Eeles R, Izatt L, Chu C, Eccles D, Douglas F, Brewer C, Nevanlinna H, Heikkinen T, Couch FJ, Lindor NM, Wang X, Godwin AK, Caligo MA, Lombardi G, Loman N, Karlsson P, Ehrencrona H, Wachenfeldt Av; SWE-BRCA; Barkardottir RB, Hamann U, Rashid MU, Lasa A, Caldés T, Andrés R, Schmitt M, Assmann V, Stevens K, Offit K, Curado J, Tilgner H, Guigó R, Aiza G, Brunet J, Castellsagué J, Martrat G, Urruticoechea A, Blanco I, Tihomirova L, Goldgar DE, Buys S, John EM, Miron A, … See abstract for full author list ➔ Maxwell CA, et al. Among authors: capella g. PLoS Biol. 2011 Nov;9(11):e1001199. doi: 10.1371/journal.pbio.1001199. Epub 2011 Nov 15. PLoS Biol. 2011. PMID: 22110403 Free PMC article.
Comprehensive functional assessment of MLH1 variants of unknown significance.
Borràs E, Pineda M, Brieger A, Hinrichsen I, Gómez C, Navarro M, Balmaña J, Ramón y Cajal T, Torres A, Brunet J, Blanco I, Plotz G, Lázaro C, Capellá G. Borràs E, et al. Among authors: capella g. Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22736432
Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.
Bellido F, Guinó E, Jagmohan-Changur S, Seguí N, Pineda M, Navarro M, Lázaro C, Blanco I, Vasen HF, Moreno V, Capellá G, Wijnen JT, Valle L. Bellido F, et al. Among authors: capella g. Eur J Hum Genet. 2013 May;21(5):511-6. doi: 10.1038/ejhg.2012.204. Epub 2012 Sep 5. Eur J Hum Genet. 2013. PMID: 22948024 Free PMC article.
Telomere length and genetic anticipation in Lynch syndrome.
Seguí N, Pineda M, Guinó E, Borràs E, Navarro M, Bellido F, Moreno V, Lázaro C, Blanco I, Capellá G, Valle L. Seguí N, et al. Among authors: capella g. PLoS One. 2013 Apr 23;8(4):e61286. doi: 10.1371/journal.pone.0061286. Print 2013. PLoS One. 2013. PMID: 23637804 Free PMC article.
Refining the role of PMS2 in Lynch syndrome: germline mutational analysis improved by comprehensive assessment of variants.
Borràs E, Pineda M, Cadiñanos J, Del Valle J, Brieger A, Hinrichsen I, Cabanillas R, Navarro M, Brunet J, Sanjuan X, Musulen E, van der Klift H, Lázaro C, Plotz G, Blanco I, Capellá G. Borràs E, et al. Among authors: capella g. J Med Genet. 2013 Aug;50(8):552-63. doi: 10.1136/jmedgenet-2012-101511. Epub 2013 May 24. J Med Genet. 2013. PMID: 23709753
GALNT12 is not a major contributor of familial colorectal cancer type X.
Seguí N, Pineda M, Navarro M, Lázaro C, Brunet J, Infante M, Durán M, Soto JL, Blanco I, Capellá G, Valle L. Seguí N, et al. Among authors: capella g. Hum Mutat. 2014 Jan;35(1):50-2. doi: 10.1002/humu.22454. Epub 2013 Oct 17. Hum Mutat. 2014. PMID: 24115450
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Thompson BA, Spurdle AB, Plazzer JP, Greenblatt MS, Akagi K, Al-Mulla F, Bapat B, Bernstein I, Capellá G, den Dunnen JT, du Sart D, Fabre A, Farrell MP, Farrington SM, Frayling IM, Frebourg T, Goldgar DE, Heinen CD, Holinski-Feder E, Kohonen-Corish M, Robinson KL, Leung SY, Martins A, Moller P, Morak M, Nystrom M, Peltomaki P, Pineda M, Qi M, Ramesar R, Rasmussen LJ, Royer-Pokora B, Scott RJ, Sijmons R, Tavtigian SV, Tops CM, Weber T, Wijnen J, Woods MO, Macrae F, Genuardi M. Thompson BA, et al. Among authors: capella g. Nat Genet. 2014 Feb;46(2):107-115. doi: 10.1038/ng.2854. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362816 Free PMC article.
506 results