Journal article
Molecular study of the perforin gene in familial hematological malignancies
R El Abed, V Bourdon, I Voskoboinik, H Omri, YB Youssef, MA Laatiri, L Huiart, F Eisinger, L Rabayrol, M Frenay, P Gesta, L Demange, H Dreyfus, V Bonadona, C Dugast, H Zattara, L Faivre, M Zaier, SY Jemni, T Noguchi Show all
Hereditary Cancer in Clinical Practice | BMC | Published : 2011
Open access
Abstract
Perforin gene (PRF1) mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH) and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81). Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense s..
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Funding Acknowledgements
This work was supported by la Societe Francaise d'Hematologie, le groupe Genetique et Cancer and l'Institut National du Cancer INCa and by the Ministere de l'Enseignement Superieur et de la Recherche Scientifique in Tunisia. It was part of the GenHem INSERM/DGRS project (2010-2011). We would like to thank Valerie Delague for helpful discussions, Institut Paoli Calmettes and Pr Patrice Viens.