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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Dominguez-Valentin M, Sampson JR, Seppälä TT, Ten Broeke SW, Plazzer JP, Nakken S, Engel C, Aretz S, Jenkins MA, Sunde L, Bernstein I, Capella G, Balaguer F, Thomas H, Evans DG, Burn J, Greenblatt M, Hovig E, de Vos Tot Nederveen Cappel WH, Sijmons RH, Bertario L, Tibiletti MG, Cavestro GM, Lindblom A, Della Valle A, Lopez-Köstner F, Gluck N, Katz LH, Heinimann K, Vaccaro CA, Büttner R, Görgens H, Holinski-Feder E, Morak M, Holzapfel S, Hüneburg R, Knebel Doeberitz MV, Loeffler M, Rahner N, Schackert HK, Steinke-Lange V, Schmiegel W, Vangala D, Pylvänäinen K, Renkonen-Sinisalo L, Hopper JL, Win AK, Haile RW, Lindor NM, Gallinger S, Le Marchand L, Newcomb PA, Figueiredo JC, Thibodeau SN, Wadt K, Therkildsen C, Okkels H, Ketabi Z, Moreira L, Sánchez A, Serra-Burriel M, Pineda M, Navarro M, Blanco I, Green K, Lalloo F, Crosbie EJ, Hill J, Denton OG, Frayling IM, Rødland EA, Vasen H, Mints M, Neffa F, Esperon P, Alvarez K, Kariv R, Rosner G, Pinero TA, Gonzalez ML, Kalfayan P, Tjandra D, Winship IM, Macrae F, Möslein G, Mecklin JP, Nielsen M, Møller P. Dominguez-Valentin M, et al. Among authors: navarro m. Genet Med. 2020 Jan;22(1):15-25. doi: 10.1038/s41436-019-0596-9. Epub 2019 Jul 24. Genet Med. 2020. PMID: 31337882 Free PMC article.
Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil-based adjuvant treatment.
Dotor E, Cuatrecases M, Martínez-Iniesta M, Navarro M, Vilardell F, Guinó E, Pareja L, Figueras A, Molleví DG, Serrano T, de Oca J, Peinado MA, Moreno V, Germà JR, Capellá G, Villanueva A. Dotor E, et al. Among authors: navarro m. J Clin Oncol. 2006 Apr 1;24(10):1603-11. doi: 10.1200/JCO.2005.03.5253. J Clin Oncol. 2006. PMID: 16575011
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: navarro m. Hum Mutat. 2012 Nov;33(11):1576-88. doi: 10.1002/humu.22142. Epub 2012 Jul 12. Hum Mutat. 2012. PMID: 22736432
MLH1 methylation screening is effective in identifying epimutation carriers.
Pineda M, Mur P, Iniesta MD, Borràs E, Campos O, Vargas G, Iglesias S, Fernández A, Gruber SB, Lázaro C, Brunet J, Navarro M, Blanco I, Capellá G. Pineda M, et al. Among authors: navarro m. Eur J Hum Genet. 2012 Dec;20(12):1256-64. doi: 10.1038/ejhg.2012.136. Epub 2012 Jul 4. Eur J Hum Genet. 2012. PMID: 22763379 Free PMC article.
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: navarro m. 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.
Identification of a founder EPCAM deletion in Spanish Lynch syndrome families.
Mur P, Pineda M, Romero A, Del Valle J, Borràs E, Canal A, Navarro M, Brunet J, Rueda D, Ramón Y Cajal T, Lázaro C, Caldés T, Blanco I, Soto JL, Capellá G. Mur P, et al. Among authors: navarro m. Clin Genet. 2014 Mar;85(3):260-6. doi: 10.1111/cge.12152. Epub 2013 Apr 26. Clin Genet. 2014. PMID: 23530899
2,582 results