title: [Frequency, spectrum, and functional significance of TP53 mutations in patients with diffuse large B-cell lymphoma].
abstract: A comparative analysis of oncogene mutations shows that variations in their frequency, spectrum, and hot-spot locations depends on the type of tumor and the ethnic origin of the population studied. The current version of the IARC TP53 Mutation Database lacks information about the frequency and spectrum of TP53 mutations in patients with DLBCL in Russia. The aim of this study was to assess the frequency and functional significance of TP53 mutations in patients with DLBCL in Novosibirsk. The TP53 coding sequence and the adjacent intron regions were analyzed by direct sequencing in the tumor material from 74 patients with DLBCL. Mutations of the TP53 coding sequence were found in 18 (24.3%) patients. These data are consistent with the frequency of TP53  mutations observed in other studies. The spectrum of nucleotide substitutions found in DLBCL specimens corresponded to that described in the IARC TP53 Mutation Database. According to bioinformatic data and to reported experiments in vitro, most of the mutations detected result in the production of functionally inactive p53. Our results show that DLBCL progression is accompanied by the functional selection for mutations in TP53 exons 5-8.
authors.affiliation: Institute of Internal and Preventive Medicine, Novosibirsk, 630086 Russia.|vena.81@mail.ru.
authors.forename: E N
authors.initials: EN
authors.lastname: Voropaeva
authors.affiliation: Novosibirsk State Medical University, Novosibirsk, 630091 Russia.
authors.forename: T I
authors.initials: TI
authors.lastname: Pospelova
authors.affiliation: Institute of Internal and Preventive Medicine, Novosibirsk, 630086 Russia.
authors.forename: M I
authors.initials: MI
authors.lastname: Voevoda
authors.affiliation: Institute of Internal and Preventive Medicine, Novosibirsk, 630086 Russia.
authors.forename: V N
authors.initials: VN
authors.lastname: Maksimov
mesh_terms: D005091:Exons; D006801:Humans; D016403:Lymphoma, Large B-Cell, Diffuse / Q000235:genetics*; D009154:Mutation; D012426:Russia; D016159:Tumor Suppressor Protein p53 / Q000235:genetics*
chemical_list: C495901:TP53 protein, human; D016159:Tumor Suppressor Protein p53
keywords: TP53 gene; diffuse large B-cell lymphoma; mutation; sequencing