Familial Cancer

, 8:581

Molecular study of CEPBA in familial hematological malignancies

  • R. El Abed
  • V. Bourdon
  • L. Huiart
  • F. Eisinger
  • A. Khelif
  • M. Frenay
  • P. Gesta
  • L. Demange
  • H. Dreyfus
  • V. Bonadona
  • C. Dugast
  • H. Zattara
  • L. Faivre
  • T. Noguchi
  • R. Sauvan
  • Z. Soua
  • H. Sobol
Article

DOI: 10.1007/s10689-009-9289-x

Cite this article as:
Abed, R.E., Bourdon, V., Huiart, L. et al. Familial Cancer (2009) 8: 581. doi:10.1007/s10689-009-9289-x

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.

Keywords

CEBPAGermline mutationHaematological familial malignancies

Copyright information

© Springer Science+Business Media B.V. 2009

Authors and Affiliations

  • R. El Abed
    • 1
  • V. Bourdon
    • 2
  • L. Huiart
    • 2
  • F. Eisinger
    • 2
  • A. Khelif
    • 3
  • M. Frenay
    • 4
  • P. Gesta
    • 5
  • L. Demange
    • 6
  • H. Dreyfus
    • 7
  • V. Bonadona
    • 8
  • C. Dugast
    • 9
  • H. Zattara
    • 10
  • L. Faivre
    • 11
  • T. Noguchi
    • 2
  • R. Sauvan
    • 2
  • Z. Soua
    • 1
  • H. Sobol
    • 2
    • 12
  1. 1.Faculté de Médecine, UR Biologie moléculaire des leucémies et lymphomesLaboratoire de BiochimieSousseTunisia
  2. 2.Institut Paoli-Calmettes/CIC Inserm 9502, Département d’Oncologie Génétique, de Prévention et Dépistage/Université d’Aix Marseille II, IPCMarseilleFrance
  3. 3.Service d’Hématologie Clinique, CHU F. HachedSousseTunisia
  4. 4.Centre Antoine LacassagneNiceFrance
  5. 5.CHG NiortNiortFrance
  6. 6.Polyclinique de CourlancyReimsFrance
  7. 7.Institut Ste CatherineAvignonFrance
  8. 8.Unité de génétique Epidémiologique, Centre Léon Bérard LyonLyonFrance
  9. 9.Centre Eugène-MarquisRennesFrance
  10. 10.Département de GénétiqueHôpital de la TimoneMarseilleFrance
  11. 11.Hôpital d’Enfants, CHU de DijonDijonFrance
  12. 12.Université d’Aix Marseille IIMarseilleFrance