title: Molecular study of CEBPA in familial hematological malignancies.
abstract: Familial aggregation in patients with several haematological malignancies has been described, but the genetic basis for this familial clustering is not known. Few genes predisposing to familial haematological malignancies have been identified, among which RUNX1 and CEBPA have been described as predisposing genes to acute myeloid leukemia (AML). Recent studies on RUNX1 suggest that germline mutations in this gene predispose to a larger panel of familial haematological malignancies than AML. In order to strengthen this hypothesis, we have screened CEBPA for germline mutations in several families presenting aggregation of hematological malignancies (including chronic or acute, lymphoid or myeloid leukemias, Hodgkin's or non Hodgkin's lymphomas, and myeloproliferative or myelodysplastic syndromes) with or without solid tumours. Although no deleterious mutations were found, we report two novel and rare variants of uncertain significance. In addition, we confirm that the in frame insertion c.1175_1180dup (p.P194_H195dup) is a germline polymorphism.
authors.affiliation: Faculté de Médecine, UR Biologie Moléculaire des Leucémies et Lymphomes, Laboratoire de Biochimie, Sousse, Tunisia.
authors.forename: R
authors.initials: R
authors.lastname: El Abed
authors.forename: V
authors.initials: V
authors.lastname: Bourdon
authors.forename: L
authors.initials: L
authors.lastname: Huiart
authors.forename: F
authors.initials: F
authors.lastname: Eisinger
authors.forename: A
authors.initials: A
authors.lastname: Khelif
authors.forename: M
authors.initials: M
authors.lastname: Frenay
authors.forename: P
authors.initials: P
authors.lastname: Gesta
authors.forename: L
authors.initials: L
authors.lastname: Demange
authors.forename: H
authors.initials: H
authors.lastname: Dreyfus
authors.forename: V
authors.initials: V
authors.lastname: Bonadona
authors.forename: C
authors.initials: C
authors.lastname: Dugast
authors.forename: H
authors.initials: H
authors.lastname: Zattara
authors.forename: L
authors.initials: L
authors.lastname: Faivre
authors.forename: T
authors.initials: T
authors.lastname: Noguchi
authors.forename: R
authors.initials: R
authors.lastname: Sauvan
authors.forename: Z
authors.initials: Z
authors.lastname: Soua
authors.forename: H
authors.initials: H
authors.lastname: Sobol
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D022762:CCAAT-Enhancer-Binding Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D019337:Hematologic Neoplasms / Q000235:genetics*; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D016415:Sequence Alignment
chemical_list: D022762:CCAAT-Enhancer-Binding Proteins; C515848:CEBPA protein, human