Familial hematological malignancies: new IDH2 mutation
| العنوان: | Familial hematological malignancies: new IDH2 mutation |
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| المؤلفون: | Valérie Bonadona, Chaker Ben Salem, Paul Gesta, Sawsen Besbes, Fabienne Brenet, Hagay Sobol, François Eisinger, Catherine Dugast, Hélène Dreyfus, Mohamed-Adnène Laatiri, Abderrahim Khélif, Testsuro Noguchi, Patrice Dubreuil, Hélène Zattara, Muriel D. David, Sébastien Letard, Laurence Faivre, Angelo Paci, Véronique Mari, Virginie Penard-Lacronique, Sofien Laarif, Violaine Bourdon, Walid-Sabri Hamadou, Yosra Ben Youssef, Zohra Soua |
| المصدر: | Annals of Hematology. 95:1943-1947 |
| بيانات النشر: | Springer Science and Business Media LLC, 2016. |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Adult, Male, 0301 basic medicine, Candidate gene, IDH1, Biology, IDH2, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, medicine, Humans, Aged, Genetics, Family aggregation, Cancer, Hematology, General Medicine, Middle Aged, medicine.disease, Isocitrate Dehydrogenase, 030104 developmental biology, Isocitrate dehydrogenase, Hematologic Neoplasms, 030220 oncology & carcinogenesis, Mutation, Female |
| الوصف: | 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. |
| تدمد: | 1432-0584 0939-5555 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::14bb8f443e5c67a1bf490089f3d86726Test https://doi.org/10.1007/s00277-016-2813-9Test |
| حقوق: | CLOSED |
| رقم الانضمام: | edsair.doi.dedup.....14bb8f443e5c67a1bf490089f3d86726 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 14320584 09395555 |
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