{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"omics_type":["Unknown"],"volume":["12(1)"],"submitter":["Sanchez R"],"funding":["FUNDACION CRIS CONTRA EL CÁNCER"],"pubmed_abstract":["The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples "],"journal":["Scientific reports"],"pagination":["13057"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9338264"],"repository":["biostudies-literature"],"pubmed_title":["Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA."],"pmcid":["PMC9338264"],"pubmed_authors":["Villalon L","Steegman JL","Casado LF","Sanchez R","Wang C","Ferrer-Marin F","Anguita E","Ayala R","Carrillo J","Garcia-Gutierrez V","Ribera JM","Rosa-Rosa JM","de Toledo P","Morgades M","Martin-Munoz A","Carreno-Tarragona G","Coll R","Cervera M","Barragan E","Martinez-Lopez J","Rufian L","Exposito S","Vanegas R","Sargas C","Linares M","Dorado S","Seri C","Bravo P","Garcia O","Mercadal S","Del Mar Herraez M","Sevilla J","Barrio S","Zamora L","Magro E","Espino MJ","Ruiz E","Riaza R","Torrent A","Cuevas B","Ruiz-Heredia Y","Hernandez-Rivas JA","Ribera J","Juarez A","Caceres M","Jimenez-Ubieto A","Sanchez-Calero J"],"additional_accession":[]},"is_claimable":false,"name":"Detection of kinase domain mutations in BCR::ABL1 leukemia by ultra-deep sequencing of genomic DNA.","description":"The screening of the BCR::ABL1 kinase domain (KD) mutation has become a routine analysis in case of warning/failure for chronic myeloid leukemia (CML) and B-cell precursor acute lymphoblastic leukemia (ALL) Philadelphia (Ph)-positive patients. In this study, we present a novel DNA-based next-generation sequencing (NGS) methodology for KD ABL1 mutation detection and monitoring with a 1.0E-4 sensitivity. This approach was validated with a well-stablished RNA-based nested NGS method. The correlation of both techniques for the quantification of ABL1 mutations was high (Pearson r = 0.858, p < 0.001), offering DNA-DeepNGS a sensitivity of 92% and specificity of 82%. The clinical impact was studied in a cohort of 129 patients (n = 67 for CML and n = 62 for B-ALL patients). A total of 162 samples ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Jul","modification":"2026-07-16T12:02:22.867Z","creation":"2025-04-04T08:44:59.151Z"},"accession":"S-EPMC9338264","cross_references":{"pubmed":["35906470"],"doi":["10.1038/s41598-022-17271-3"]}}