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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Rofes P, Castillo-Manzano C, Menéndez M, Teulé Á, Iglesias S, Munté E, Ramos-Muntada M, Gómez C, Tornero E, Darder E, Montes E, Valle L, Capellá G, Pineda M, Brunet J, Feliubadaló L, Del Valle J, Lázaro C. Rofes P, et al. Among authors: feliubadalo l. Genome Med. 2025 Jan 14;17(1):3. doi: 10.1186/s13073-025-01429-5. Genome Med. 2025. PMID: 39810221 Free PMC article.
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
Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
Rofes P, Menéndez M, González S, Tornero E, Gómez C, Vargas-Parra G, Montes E, Salinas M, Solanes A, Brunet J, Teulé A, Capellá G, Feliubadaló L, Del Valle J, Pineda M, Lázaro C. Rofes P, et al. Among authors: feliubadalo l. J Mol Diagn. 2020 Dec;22(12):1453-1468. doi: 10.1016/j.jmoldx.2020.09.007. Epub 2020 Oct 1. J Mol Diagn. 2020. PMID: 33011440 Free article.
BARD1 Pathogenic Variants are Associated with Triple-Negative Breast Cancer in a Spanish Hereditary Breast and Ovarian Cancer Cohort.
Rofes P, Del Valle J, Torres-Esquius S, Feliubadaló L, Stradella A, Moreno-Cabrera JM, López-Doriga A, Munté E, De Cid R, Campos O, Cuesta R, Teulé Á, Grau È, Sanz J, Capellá G, Díez O, Brunet J, Balmaña J, Lázaro C. Rofes P, et al. Among authors: feliubadalo l. Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150. Genes (Basel). 2021. PMID: 33498765 Free PMC article.
RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.
Rofes P, Pineda M, Feliubadaló L, Menéndez M, de Cid R, Gómez C, Montes E, Capellá G, Brunet J, Del Valle J, Lázaro C. Rofes P, et al. Among authors: feliubadalo l. Sci Rep. 2021 Nov 25;11(1):22948. doi: 10.1038/s41598-021-02465-y. Sci Rep. 2021. PMID: 34824355 Free PMC article.
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E, Feliubadaló L, Pineda M, Tornero E, Gonzalez M, Moreno-Cabrera JM, Roca C, Bales Rubio J, Arnaldo L, Capellá G, Mosquera JL, Lázaro C. Munté E, et al. Among authors: feliubadalo l. Bioinformatics. 2023 Mar 1;39(3):btad128. doi: 10.1093/bioinformatics/btad128. Bioinformatics. 2023. PMID: 36916756 Free PMC article.
Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.
Fortuno C, Feng BJ, Carroll C, Innella G, Kohlmann W, Lázaro C, Brunet J, Feliubadaló L, Iglesias S, Menéndez M, Teulé A, Ballinger ML, Thomas DM, Campbell A, Field M, Harris M, Kirk J, Pachter N, Poplawski N, Susman R, Tucker K, Wallis M, Williams R, Cops E, Goldgar D; kConFab Investigators; James PA, Spurdle AB. Fortuno C, et al. Among authors: feliubadalo l. JCO Precis Oncol. 2024 Feb;8:e2300453. doi: 10.1200/PO.23.00453. JCO Precis Oncol. 2024. PMID: 38412388
Analysis of SLX4/FANCP in non-BRCA1/2-mutated breast cancer families.
Fernández-Rodríguez J, Quiles F, Blanco I, Teulé A, Feliubadaló L, Valle JD, Salinas M, Izquierdo A, Darder E, Schindler D, Capellá G, Brunet J, Lázaro C, Pujana MA. Fernández-Rodríguez J, et al. Among authors: feliubadalo l. BMC Cancer. 2012 Mar 8;12:84. doi: 10.1186/1471-2407-12-84. BMC Cancer. 2012. PMID: 22401137 Free PMC article.
78 results