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Page 1
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Vargas-Parra G, Del Valle J, Rofes P, Gausachs M, Stradella A, Moreno-Cabrera JM, Velasco A, Tornero E, Menéndez M, Muñoz X, Iglesias S, López-Doriga A, Azuara D, Campos O, Cuesta R, Darder E, de Cid R, González S, Teulé A, Navarro M, Brunet J, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Vargas-Parra G, et al. Among authors: campos o. Hum Mutat. 2020 Dec;41(12):2128-2142. doi: 10.1002/humu.24110. Epub 2020 Oct 14. Hum Mutat. 2020. PMID: 32906215
Exploring the Role of Mutations in Fanconi Anemia Genes in Hereditary Cancer Patients.
Del Valle J, Rofes P, Moreno-Cabrera JM, López-Dóriga A, Belhadj S, Vargas-Parra G, Teulé À, Cuesta R, Muñoz X, Campos O, Salinas M, de Cid R, Brunet J, González S, Capellá G, Pineda M, Feliubadaló L, Lázaro C. Del Valle J, et al. Among authors: campos o. Cancers (Basel). 2020 Mar 30;12(4):829. doi: 10.3390/cancers12040829. Cancers (Basel). 2020. PMID: 32235514 Free PMC 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: campos o. Genes (Basel). 2021 Jan 23;12(2):150. doi: 10.3390/genes12020150. Genes (Basel). 2021. PMID: 33498765 Free PMC article.
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: campos o. 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.
Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Feliubadaló L, Lopez-Doriga A, Castellsagué E, del Valle J, Menéndez M, Tornero E, Montes E, Cuesta R, Gómez C, Campos O, Pineda M, González S, Moreno V, Brunet J, Blanco I, Serra E, Capellá G, Lázaro C. Feliubadaló L, et al. Among authors: campos o. Eur J Hum Genet. 2013 Aug;21(8):864-70. doi: 10.1038/ejhg.2012.270. Epub 2012 Dec 19. Eur J Hum Genet. 2013. PMID: 23249957 Free PMC article.
ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Lopez-Doriga A, Feliubadaló L, Menéndez M, Lopez-Doriga S, Morón-Duran FD, del Valle J, Tornero E, Montes E, Cuesta R, Campos O, Gómez C, Pineda M, González S, Moreno V, Capellá G, Lázaro C. Lopez-Doriga A, et al. Among authors: campos o. Hum Mutat. 2014 Mar;35(3):271-7. doi: 10.1002/humu.22484. Hum Mutat. 2014. PMID: 24227591
Exome sequencing identifies MUTYH mutations in a family with colorectal cancer and an atypical phenotype.
Seguí N, Navarro M, Pineda M, Köger N, Bellido F, González S, Campos O, Iglesias S, Valdés-Mas R, López-Doriga A, Gut M, Blanco I, Lázaro C, Capellá G, Puente XS, Plotz G, Valle L. Seguí N, et al. Among authors: campos o. Gut. 2015 Feb;64(2):355-6. doi: 10.1136/gutjnl-2014-307084. Epub 2014 Apr 1. Gut. 2015. PMID: 24691292 No abstract available.
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Quiles F, Menéndez M, Tornero E, del Valle J, Teulé À, Palanca S, Izquierdo A, Gómez C, Campos O, Santamaria R, Brunet J, Capellá G, Feliubadaló L, Lázaro C. Quiles F, et al. Among authors: campos o. Breast Cancer Res Treat. 2016 Jan;155(2):253-60. doi: 10.1007/s10549-015-3676-9. Epub 2016 Jan 16. Breast Cancer Res Treat. 2016. PMID: 26780556
Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Stradella A, Del Valle J, Rofes P, Feliubadaló L, Grau Garces È, Velasco À, González S, Vargas G, Izquierdo Á, Campos O, Tornero E, Navarro M, Balmaña-Gelpi J, Capellá G, Pineda M, Brunet J, Lázaro C. Stradella A, et al. Among authors: campos o. J Med Genet. 2019 Aug;56(8):521-525. doi: 10.1136/jmedgenet-2018-105700. Epub 2018 Dec 22. J Med Genet. 2019. PMID: 30580288 Free PMC article.
135 results