Julia González-Rincón, José A Garcia-Vela, Sagrario Gómez, Belén Fernández-Cuevas, Sara Nova-Gurumeta, Nuria Pérez-Sanz, Miguel Alcoceba, Marcos González, Eduardo Anguita, Javier López-Jiménez, Eva González-Barca, Lucrecia Yáñez, Ernesto Pérez-Persona, Javier de la Serna, Miguel Fernández-Zarzoso, Guillermo Deben, Francisco J Peñalver, María C Fernández, Jaime Pérez de Oteyza, M Ángeles Andreu, M Ángeles Ruíz-Guinaldo, Raquel Paz-Arias, M Dolores García-Malo, Valle Recasens, Rosa Collado, Raúl Córdoba, Belén Navarro-Matilla, Margarita Sánchez-Beato, José A García-Marco
Chronic Lymphocytic Leukemia (CLL) is the most prevalent leukemia in Western countries and is notable for its variable clinical course. This variability is partly reflected by the mutational status of IGHV genes. Many CLL samples have been studied in recent years by next-generation sequencing. These studies have identified recurrent somatic mutations in NOTCH1, SF3B1, ATM, TP53, BIRC3 and others genes that play roles in cell cycle, DNA repair, RNA metabolism and splicing. In this study, we have taken a deep-targeted massive sequencing approach to analyze the impact of mutations in the most frequently mutated genes in patients with CLL enrolled in the REM (rituximab en mantenimiento) clinical trial...
2021: PloS One