Familial hematological malignancies: ASXL1 gene investigation

W. S. Hamadou; R. E. Abed; S. Besbes; V. Bourdon; A. Fabre; Y. B. Youssef; M. A. Laatiri; F. Eisinger; V. Mari; P. Gesta; H. Dreyfus; V. Bonadona; C. Dugast; H. Zattara; L. Faivre; S. Y. Jemni; T. Noguchi; A. Khélif; H. Sobol; Z. Soua

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Familial hematological malignancies: ASXL1 gene investigation

W. S. Hamadou ^[5] ; R. E. Abed ^[5] ; S. Besbes ^[5] ; V. Bourdon ^[4] ; A. Fabre ^[4] ; Y. B. Youssef ^[5] ; M. A. Laatiri ^[6] ; F. Eisinger ^[7] ; V. Mari ^[7] ; P. Gesta ^[8] ; H. Dreyfus ^[9] ; V. Bonadona ^[1] ; C. Dugast ^[2] ; H. Zattara ^[3] ; L. Faivre ^[10] ; S. Y. Jemni ^[11] ; T. Noguchi ^[4] ; A. Khélif ^[5] ; H. Sobol ^[4] ; Z. Soua ^[5]
1. [1] Centre Léon Bérard
  
  Centre Léon Bérard
  
  Arrondissement de Lyon, Francia
2. [2] Centre Eugène Marquis
  
  Centre Eugène Marquis
  
  Arrondissement de Rennes, Francia
3. [3] Hôpital de la Timone
  
  Hôpital de la Timone
  
  Arrondissement de Marseille, Francia
4. [4] Institute Paoli-Calmettes
  
  Institute Paoli-Calmettes
  
  Arrondissement de Marseille, Francia
5. [5] University of Sousse
  
  University of Sousse
  
  Túnez
6. [6] CHU Fattouma Bourguiba, Túnez
7. [7] Centre de Lutte Contre le Cancer - Institut Paoli Calmettes, Francia
8. [8] Centre Hospitalier
9. [9] Institut Sainte Catherine, Francia
10. [10] CHU de Dijon, Francia
11. [11] CHU F. Hached, Francia
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Localización: Clinical & translational oncology, ISSN 1699-048X, Vol. 18, Nº. 4 (April 2016), 2016, págs. 385-390
Idioma: inglés
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Resumen
- Purpose Familial aggregation among patients with several hematological malignancies has been revealed. This emphasizes the importance of genetic factors. Only few genes predisposing to familial hematological malignancies have been reported until now due to the low occurrence. We have described in previous study PRF1 and CEBPA variants that might contribute to the background of genetic factors, which encourage us to extend our investigations to other cooperating genes. The aim of this study is to determine whether germline additional sex combs-like 1 (ASXL1) gene mutations may be involved? Methods/patients In this study, we investigated the candidate gene ASXL1 by direct sequencing in 88 unrelated Tunisian and French families with aggregated hematological malignancies.
  
  Results We report a new p.Arg402Gln germline missense substitution in two related Tunisian patients which has not been previously described. We identified here this variant for the first time in non-Hodgkin lymphoma. The p.Arg402Gln variant was not found in 200 control chromosomes. In silico analysis has predicted potential deleterious effect on ASXL1 protein.
  
  Conclusions From an extended candidate genes analyzed in the field of familial hematological malignancies, ASXL1 might be involved. This variant should be considered since a potential damaging effect was predicted by in silico analysis, with a view to develop functional assay in order to investigate the biological assessment.