Familial hematological malignancies: new IDH2 mutation View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2016-12

AUTHORS

Walid-Sabri Hamadou, Violaine Bourdon, Sébastien Létard, Fabienne Brenet, Sofien Laarif, Sawsen Besbes, Angelo Paci, Muriel David, Virginie Penard-Lacronique, Yosra Ben Youssef, Mohamed-Adnène Laatiri, François Eisinger, Véronique Mari, Paul Gesta, Hélène Dreyfus, Valérie Bonadona, Catherine Dugast, Hélène Zattara, Laurence Faivre, Testsuro Noguchi, Abderrahim Khélif, Chaker Ben Salem, Patrice Dubreuil, Hagay Sobol, Zohra Soua

ABSTRACT

Isocitrate dehydrogenase IDH 1 and IDH 2 mutations were reported in several cancer forms, especially in hematological malignancies, but were never been investigated in familial aggregation. The aim of this study is to determine whether germline isocitrate dehydrogenase genes mutations are involved.We targeted IDH1 and IDH2 genes in 104 familial cases belonging to Tunisian and French populations, including several forms of hematological malignancies and cosegregated solid tumors.We report one IDH1 variant: c.315 G>T, p.Gly105Gly in 15 % of cases, which was assigned to the worst outcome in several studies. Three IDH2 variants were found, among them, one intronic substitution c.543+45 G>A (rs142033117) and two new variants not previously described: c.389 A>T, p.Lys130Met and c.414 T>C, p.Thr138Thr. The p.Lys130Met was found in one case diagnosed with Waldenstrom's disease with familial history of cancer. The enrolled in silico analysis, the functional study, and the absence of this variant in control population strengthen the hypothesis of its deleterious effect.From an extended number of candidate genes analyzed in familial hematological malignancies, IDH2 might be considerably involved since we reported a potential damaging effect. More... »

PAGES

1943-1947

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00277-016-2813-9

DOI

http://dx.doi.org/10.1007/s00277-016-2813-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1040347389

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/27591990


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