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Page 1
Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?
Moles-Fernández A, Duran-Lozano L, Montalban G, Bonache S, López-Perolio I, Menéndez M, Santamariña M, Behar R, Blanco A, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Capellá G, Pineda M, Vega A, Lázaro C, de la Hoya M, Diez O, Gutiérrez-Enríquez S. Moles-Fernández A, et al. Among authors: carrasco e. Front Genet. 2018 Sep 5;9:366. doi: 10.3389/fgene.2018.00366. eCollection 2018. Front Genet. 2018. PMID: 30233647 Free PMC article.
Prevalence of germline MUTYH mutations among Lynch-like syndrome patients.
Castillejo A, Vargas G, Castillejo MI, Navarro M, Barberá VM, González S, Hernández-Illán E, Brunet J, Ramón y Cajal T, Balmaña J, Oltra S, Iglesias S, Velasco A, Solanes A, Campos O, Sánchez Heras AB, Gallego J, Carrasco E, González Juan D, Segura A, Chirivella I, Juan MJ, Tena I, Lázaro C, Blanco I, Pineda M, Capellá G, Soto JL. Castillejo A, et al. Among authors: carrasco e. Eur J Cancer. 2014 Sep;50(13):2241-50. doi: 10.1016/j.ejca.2014.05.022. Epub 2014 Jun 18. Eur J Cancer. 2014. PMID: 24953332
BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.
de Juan I, Palanca S, Domenech A, Feliubadaló L, Segura Á, Osorio A, Chirivella I, de la Hoya M, Sánchez AB, Infante M, Tena I, Díez O, Garcia-Casado Z, Vega A, Teulé À, Barroso A, Pérez P, Durán M, Carrasco E, Juan-Fita MJ, Murria R, Llop M, Barragan E, Izquierdo Á, Benítez J, Caldés T, Salas D, Bolufer P. de Juan I, et al. Among authors: carrasco e. Fam Cancer. 2015 Dec;14(4):505-13. doi: 10.1007/s10689-015-9814-z. Fam Cancer. 2015. PMID: 26026974
Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings.
Bonache S, Esteban I, Moles-Fernández A, Tenés A, Duran-Lozano L, Montalban G, Bach V, Carrasco E, Gadea N, López-Fernández A, Torres-Esquius S, Mancuso F, Caratú G, Vivancos A, Tuset N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Bonache S, et al. Among authors: carrasco e. J Cancer Res Clin Oncol. 2018 Dec;144(12):2495-2513. doi: 10.1007/s00432-018-2763-9. Epub 2018 Oct 10. J Cancer Res Clin Oncol. 2018. PMID: 30306255
Screening of BRCA1/2 deep intronic regions by targeted gene sequencing identifies the first germline BRCA1 variant causing pseudoexon activation in a patient with breast/ovarian cancer.
Montalban G, Bonache S, Moles-Fernández A, Gisbert-Beamud A, Tenés A, Bach V, Carrasco E, López-Fernández A, Stjepanovic N, Balmaña J, Diez O, Gutiérrez-Enríquez S. Montalban G, et al. Among authors: carrasco e. J Med Genet. 2019 Feb;56(2):63-74. doi: 10.1136/jmedgenet-2018-105606. Epub 2018 Nov 24. J Med Genet. 2019. PMID: 30472649
Alternative transcript imbalance underlying breast cancer susceptibility in a family carrying PALB2 c.3201+5G>T.
Duran-Lozano L, Montalban G, Bonache S, Moles-Fernández A, Tenés A, Castroviejo-Bermejo M, Carrasco E, López-Fernández A, Torres-Esquius S, Gadea N, Stjepanovic N, Balmaña J, Gutiérrez-Enríquez S, Diez O. Duran-Lozano L, et al. Among authors: carrasco e. Breast Cancer Res Treat. 2019 Apr;174(2):543-550. doi: 10.1007/s10549-018-05094-8. Epub 2018 Dec 14. Breast Cancer Res Treat. 2019. PMID: 30552643
Opportunistic testing of BRCA1, BRCA2 and mismatch repair genes improves the yield of phenotype driven hereditary cancer gene panels.
Feliubadaló L, López-Fernández A, Pineda M, Díez O, Del Valle J, Gutiérrez-Enríquez S, Teulé A, González S, Stjepanovic N, Salinas M, Capellá G, Brunet J, Lázaro C, Balmaña J; Catalan Hereditary Cancer Group. Feliubadaló L, et al. Int J Cancer. 2019 Nov 15;145(10):2682-2691. doi: 10.1002/ijc.32304. Epub 2019 Apr 15. Int J Cancer. 2019. PMID: 30927264
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Parsons MT, Tudini E, Li H, Hahnen E, Wappenschmidt B, Feliubadaló L, Aalfs CM, Agata S, Aittomäki K, Alducci E, Alonso-Cerezo MC, Arnold N, Auber B, Austin R, Azzollini J, Balmaña J, Barbieri E, Bartram CR, Blanco A, Blümcke B, Bonache S, Bonanni B, Borg Å, Bortesi B, Brunet J, Bruzzone C, Bucksch K, Cagnoli G, Caldés T, Caliebe A, Caligo MA, Calvello M, Capone GL, Caputo SM, Carnevali I, Carrasco E, Caux-Moncoutier V, Cavalli P, Cini G, Clarke EM, Concolino P, Cops EJ, Cortesi L, Couch FJ, Darder E, de la Hoya M, Dean M, Debatin I, Del Valle J, Delnatte C, Derive N, Diez O, Ditsch N, Domchek SM, Dutrannoy V, Eccles DM, Ehrencrona H, Enders U, Evans DG, Farra C, Faust U, Felbor U, Feroce I, Fine M, Foulkes WD, Galvao HCR, Gambino G, Gehrig A, Gensini F, Gerdes AM, Germani A, Giesecke J, Gismondi V, Gómez C, Gómez Garcia EB, González S, Grau E, Grill S, Gross E, Guerrieri-Gonzaga A, Guillaud-Bataille M, Gutiérrez-Enríquez S, Haaf T, Hackmann K, Hansen TVO, Harris M, Hauke J, Heinrich T, Hellebrand H, Herold KN, Honisch E, Horvath J, Houdayer C, Hübbel V, Iglesias S, Izquierdo A, James PA, Janssen LAM, Jeschke U, Kaulfuß S, Keupp K, Kiechle M, Kölbl A, Krieger S, Kruse TA, K… See abstract for full author list ➔ Parsons MT, et al. Among authors: carrasco e. Hum Mutat. 2019 Sep;40(9):1557-1578. doi: 10.1002/humu.23818. Hum Mutat. 2019. PMID: 31131967 Free PMC article.
Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.
Bogliolo M, Pujol R, Aza-Carmona M, Muñoz-Subirana N, Rodriguez-Santiago B, Casado JA, Rio P, Bauser C, Reina-Castillón J, Lopez-Sanchez M, Gonzalez-Quereda L, Gallano P, Catalá A, Ruiz-Llobet A, Badell I, Diaz-Heredia C, Hladun R, Senent L, Argiles B, Bergua Burgues JM, Bañez F, Arrizabalaga B, López Almaraz R, Lopez M, Figuera Á, Molinés A, Pérez de Soto I, Hernando I, Muñoz JA, Del Rosario Marin M, Balmaña J, Stjepanovic N, Carrasco E, Cuesta I, Cosuelo JM, Regueiro A, Moraleda Jimenez J, Galera-Miñarro AM, Rosiñol L, Carrió A, Beléndez-Bieler C, Escudero Soto A, Cela E, de la Mata G, Fernández-Delgado R, Garcia-Pardos MC, Sáez-Villaverde R, Barragaño M, Portugal R, Lendinez F, Hernadez I, Vagace JM, Tapia M, Nieto J, Garcia M, Gonzalez M, Vicho C, Galvez E, Valiente A, Antelo ML, Ancliff P, Garcia F, Dopazo J, Sevilla J, Paprotka T, Pérez-Jurado LA, Bueren J, Surralles J. Bogliolo M, et al. Among authors: carrasco e. J Med Genet. 2020 Apr;57(4):258-268. doi: 10.1136/jmedgenet-2019-106249. Epub 2019 Oct 5. J Med Genet. 2020. PMID: 31586946
409 results