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Page 1
Germline mutations in WNK2 could be associated with serrated polyposis syndrome.
Soares de Lima Y, Arnau-Collell C, Muñoz J, Herrera-Pariente C, Moreira L, Ocaña T, Díaz-Gay M, Franch-Expósito S, Cuatrecasas M, Carballal S, Lopez-Novo A, Moreno L, Fernàndez G, Díaz de Bustamante A, Peters S, Sommer AK, Spier I, Te Paske IBAW, van Herwaarden YJ, Castells A, Bujanda L, Capellà G, Steinke-Lange V, Mahmood K, Joo JE, Arnold J, Parry S, Macrae FA, Winship IM, Rosty C, Cubiella J, Rodríguez-Alcalde D, Holinski-Feder E, de Voer R, Buchanan DD, Aretz S, Ruiz-Ponte C, Valle L, Balaguer F, Bonjoch L, Castellvi-Bel S. Soares de Lima Y, et al. Among authors: lopez novo a. J Med Genet. 2023 Jun;60(6):557-567. doi: 10.1136/jmg-2022-108684. Epub 2022 Oct 21. J Med Genet. 2023. PMID: 36270769 Free PMC article.
Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.
Fernandez-Rozadilla C, Alvarez-Barona M, Schamschula E, Bodo S, Lopez-Novo A, Dacal A, Calviño-Costas C, Lancho A, Amigo J, Bello X, Cameselle-Teijeiro JM, Carracedo A, Colas C, Muleris M, Wimmer K, Ruiz-Ponte C. Fernandez-Rozadilla C, et al. Among authors: lopez novo a. Cancers (Basel). 2019 Jul 30;11(8):1081. doi: 10.3390/cancers11081081. Cancers (Basel). 2019. PMID: 31366136 Free PMC article.
A Collaborative Effort to Define Classification Criteria for ATM Variants in Hereditary Cancer Patients.
Feliubadaló L, Moles-Fernández A, Santamariña-Pena M, Sánchez AT, López-Novo A, Porras LM, Blanco A, Capellá G, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, de la Cruz X, Diez O, Ruiz-Ponte C, Gutiérrez-Enríquez S, Vega A, Lázaro C. Feliubadaló L, et al. Among authors: lopez novo a. Clin Chem. 2021 Mar 1;67(3):518-533. doi: 10.1093/clinchem/hvaa250. Clin Chem. 2021. PMID: 33280026 Free article.
Exome sequencing of early-onset patients supports genetic heterogeneity in colorectal cancer.
Fernández-Rozadilla C, Álvarez-Barona M, Quintana I, López-Novo A, Amigo J, Cameselle-Teijeiro JM, Roman E, Gonzalez D, Llor X, Bujanda L, Bessa X, Jover R, Balaguer F, Castells A, Castellví-Bel S, Capellá G, Carracedo A, Valle L, Ruiz-Ponte C. Fernández-Rozadilla C, et al. Among authors: lopez novo a. Sci Rep. 2021 May 27;11(1):11135. doi: 10.1038/s41598-021-90590-z. Sci Rep. 2021. PMID: 34045552 Free PMC article.
BMPR2 as a Novel Predisposition Gene for Hereditary Colorectal Polyposis.
Bonjoch L, Fernandez-Rozadilla C, Alvarez-Barona M, Lopez-Novo A, Herrera-Pariente C, Amigo J, Bujanda L, Remedios D, Dacal A, Cubiella J, Balaguer F, Fernández-Bañares F, Carracedo A, Jover R, Castellvi-Bel S, Ruiz-Ponte C. Bonjoch L, et al. Among authors: lopez novo a. Gastroenterology. 2023 Jul;165(1):162-172.e5. doi: 10.1053/j.gastro.2023.03.006. Epub 2023 Mar 11. Gastroenterology. 2023. PMID: 36907526 Free article.
A New Set of in Silico Tools to Support the Interpretation of ATM Missense Variants Using Graphical Analysis.
Porras LM, Padilla N, Moles-Fernández A, Feliubadaló L, Santamariña-Pena M, Sánchez AT, López-Novo A, Blanco A, de la Hoya M, Molina IJ, Osorio A, Pineda M, Rueda D, Ruiz-Ponte C, Vega A, Lázaro C, Díez O, Gutiérrez-Enríquez S, de la Cruz X. Porras LM, et al. Among authors: lopez novo a. J Mol Diagn. 2024 Jan;26(1):17-28. doi: 10.1016/j.jmoldx.2023.09.009. Epub 2023 Oct 19. J Mol Diagn. 2024. PMID: 37865290 Free article.
First international workshop of the ATM and cancer risk group (4-5 December 2019).
Lesueur F, Easton DF, Renault AL, Tavtigian SV, Bernstein JL, Kote-Jarai Z, Eeles RA, Plaseska-Karanfia D, Feliubadaló L; Spanish ATM working group; Arun B, Herold N, Versmold B, Schmutzler RK; GC-HBOC; Nguyen-Dumont T, Southey MC, Dorling L, Dunning AM, Ghiorzo P, Dalmasso BS, Cavaciuti E, Le Gal D, Roberts NJ, Dominguez-Valentin M, Rookus M, Taylor AMR, Goldstein AM, Goldgar DE; CARRIERS and Ambry Groups; Stoppa-Lyonnet D, Andrieu N. Lesueur F, et al. Fam Cancer. 2022 Apr;21(2):211-227. doi: 10.1007/s10689-021-00248-y. Epub 2021 Jun 14. Fam Cancer. 2022. PMID: 34125377 Free PMC article. Review.
SpadaHC: a database to improve the classification of variants in hereditary cancer genes in the Spanish population.
Moreno-Cabrera JM, Feliubadaló L, Pineda M, Prada-Dacasa P, Ramos-Muntada M, Del Valle J, Brunet J, Gel B, Currás-Freixes M, Calsina B, Salazar-Hidalgo ME, Rodríguez-Balada M, Roig B, Fernández-Castillejo S, Durán Domínguez M, Arranz Ledo M, Infante Sanz M, Castillejo A, Dámaso E, Soto JL, de Miguel M, Hidalgo Calero B, Sánchez-Zapardiel JM, Ramon Y Cajal T, Lasa A, Gisbert-Beamud A, López-Novo A, Ruiz-Ponte C, Potrony M, Álvarez-Mora MI, Osorio A, Lorda-Sánchez I, Robledo M, Cascón A, Ruiz A, Spataro N, Hernan I, Borràs E, Moles-Fernández A, Earl J, Cadiñanos J, Sánchez-Heras AB, Bigas A, Capellá G, Lázaro C. Moreno-Cabrera JM, et al. Among authors: lopez novo a. Database (Oxford). 2024 Jul 4;2024:baae055. doi: 10.1093/database/baae055. Database (Oxford). 2024. PMID: 38965703 Free PMC article.