title: A comprehensive study of TP53 mutations in chronic lymphocytic leukemia: Analysis of 1287 diagnostic and 1148 follow-up CLL samples.
abstract: TP53 plays a pivotal role in the process of DNA repair and apoptosis. In 10-20% of patients with chronic lymphocytic leukemia (CLL), the TP53 pathway is affected. In this study, we analyzed the TP53 mutation status in 2435 consecutive CLL samples, including 1287 diagnostic samples and 1148 samples during follow-up, using FASAY (Functional Analysis of Separated Alleles in Yeast) and direct sequencing. In a cohort of 1287 diagnostic CLL samples, we identified 237 cases with TP53 variants, including mutations, temperature-sensitive variants, deletions, insertions and aberrant splicing variants (18.4%). In 1148 follow-up samples, no TP53 clonal evolution was observed.
authors.affiliation: Laboratory for Molecular Diagnostics, Chambon Inc., Evropska 176/16, Prague 6, 160 00, Czech Republic. pekovas@post.cz
authors.forename: Sona
authors.initials: S
authors.lastname: Pekova
authors.forename: Oldrich
authors.initials: O
authors.lastname: Mazal
authors.forename: Radek
authors.initials: R
authors.lastname: Cmejla
authors.forename: David W
authors.initials: DW
authors.lastname: Hardekopf
authors.forename: Radek
authors.initials: R
authors.lastname: Plachy
authors.forename: Lenka
authors.initials: L
authors.lastname: Zejskova
authors.forename: Renata
authors.initials: R
authors.lastname: Haugvicova
authors.forename: Tereza
authors.initials: T
authors.lastname: Jancuskova
authors.forename: Michal
authors.initials: M
authors.lastname: Karas
authors.forename: Vladimir
authors.initials: V
authors.lastname: Koza
authors.forename: Lukas
authors.initials: L
authors.lastname: Smolej
authors.forename: Ludmila
authors.initials: L
authors.lastname: Bezdickova
authors.forename: Tomas
authors.initials: T
authors.lastname: Kozak
mesh_terms: D017398:Alternative Splicing; D014408:Biomarkers, Tumor / Q000235:genetics* / Q000378:metabolism; D015153:Blotting, Western; D002872:Chromosome Deletion; D005260:Female; D005500:Follow-Up Studies; D020869:Gene Expression Profiling; D006801:Humans; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D016297:Mutagenesis, Site-Directed; D009154:Mutation / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D011379:Prognosis; D012333:RNA, Messenger / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: D014408:Biomarkers, Tumor; D012333:RNA, Messenger; C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53