title: C/EBP-beta, C/EBP-delta, PU.1, AML1 genes: mutational analysis in 381 samples of hematopoietic and solid malignancies.
abstract: Mutations of transcription factors are associated with the pathogenesis of cancer. Genomic DNA from 381 cancers and cell lines representing leukemias, lymphomas and a variety of solid tumors were examined for mutations of genes coding for the C/EBP-beta, C/EBP-alpha, PU.1, and AML1 transcription factors using single strand conformation polymorphism (SSCP) and direct DNA sequencing. Mutation of C/EBP-beta (a chronic myelogenous leukemia cell line, Kcl22) and C/EBP-delta (a Burkitt's lymphoma cell line, Raji) were found. Interestingly, the sample with a C/EBP-beta alterations had two missense (P236L and G252A) and two silent mutations in a highly conserved region of the gene. The C/EBP-delta alteration in Raji was a missense mutation (A177G). These findings suggest that mutations of the C/EBP-beta, C/EBP-delta, PU.1, and AML1 rarely contribute to the development of hematopoietic or solid cancers.
authors.affiliation: Division of Hematology/Oncology, Cedars-Sinai Research Institute, UCLA School of Medicine, Los Angeles, CA 90048, USA.
authors.forename: Vijaya
authors.initials: V
authors.lastname: Vegesna
authors.forename: Seisho
authors.initials: S
authors.lastname: Takeuchi
authors.forename: Wolf-K
authors.initials: WK
authors.lastname: Hofmann
authors.forename: Takayuki
authors.initials: T
authors.lastname: Ikezoe
authors.forename: Sigal
authors.initials: S
authors.lastname: Tavor
authors.forename: Utz
authors.initials: U
authors.lastname: Krug
authors.forename: Anthony C
authors.initials: AC
authors.lastname: Fermin
authors.forename: Anthony
authors.initials: A
authors.lastname: Heaney
authors.forename: Carl W
authors.initials: CW
authors.lastname: Miller
authors.forename: H Phillip
authors.initials: HP
authors.lastname: Koeffler
mesh_terms: D022782:CCAAT-Enhancer-Binding Protein-beta / Q000235:genetics*; D051743:CCAAT-Enhancer-Binding Protein-delta; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins / Q000235:genetics*; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D009154:Mutation; D009369:Neoplasms / Q000235:genetics*; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D015534:Trans-Activators / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*; D000099232:Proto-Oncogene Protein Spi-1
chemical_list: D022782:CCAAT-Enhancer-Binding Protein-beta; D051743:CCAAT-Enhancer-Binding Protein-delta; D022762:CCAAT-Enhancer-Binding Proteins; D050676:Core Binding Factor Alpha 2 Subunit; D004268:DNA-Binding Proteins; D011518:Proto-Oncogene Proteins; D015534:Trans-Activators; D014157:Transcription Factors; D000099232:Proto-Oncogene Protein Spi-1; C497252:CEBPD protein, human; C493728:RUNX1 protein, human