title: Mutations of the BIK gene in human peripheral B-cell lymphomas.
abstract: BIK, a BH (Bcl2 homology domain)3-only protein, is a proapoptotic member of the BCL2 family. We performed single-strand conformational polymorphism and sequencing analysis of the entire coding region of the BIK gene (exons 2-5) in 71 B-cell lymphomas [27 follicular lymphomas (FLs), 13 marginal cell lymphomas (MZLs), 7 small lymphocytic lymphomas (SLLs), 6 mantle cell lymphomas (MCLs), 2 lymphoplasmacytic lymphomas, and 16 diffuse large B-cell lymphomas (DLBCLs)]. Missense BIK gene mutations were observed in 3 of 27 (11%) FLs, in 2 of 13 (15%) MZLs, and in 1 of 16 (6%) DLBCLs. Sequence alterations in intronic regions were observed in 4 of 27 (14.8%) FLs, in 7 of 13 (53%) MZLs, and in 3 of 16 (18%) DLBCLs. These data indicate that mutation of the BIK gene is a frequent feature of B-cell lymphomas.
authors.affiliation: Istituto di Anatomia Patologica, Università Cattolica del Sacro Cuore, Rome 00168, Italy.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Arena
authors.forename: Maurizio
authors.initials: M
authors.lastname: Martini
authors.forename: Myriam
authors.initials: M
authors.lastname: Luongo
authors.forename: Arnaldo
authors.initials: A
authors.lastname: Capelli
authors.forename: Luigi Maria
authors.initials: LM
authors.lastname: Larocca
mesh_terms: D017209:Apoptosis / Q000235:genetics; D051017:Apoptosis Regulatory Proteins; D004252:DNA Mutational Analysis / Q000379:methods; D015972:Gene Expression Regulation, Neoplastic / Q000235:genetics; D006801:Humans; D016393:Lymphoma, B-Cell / Q000235:genetics*; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*
chemical_list: D051017:Apoptosis Regulatory Proteins; C096820:BIK protein, human; D008565:Membrane Proteins; D024101:Mitochondrial Proteins; D009363:Neoplasm Proteins; D011506:Proteins