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https://dora.health.qld.gov.au/qldresearchjspui/handle/1/2395| Title: | The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants | Authors: | Green, A. Rio-Machin, A. Vulliamy, T. Hug, N. Walne, A. Tawana, K. Cardoso, S. Ellison, A. Pontikos, N. Wang, J. Tummala, H. Al Seraihi, A. F. H. Alnajar, J. Bewicke-Copley, F. Armes, H. Barnett, M. Bloor, A. Bödör, C. Bowen, D. Fenaux, P. Hallahan, A. Hjorth-Hansen, H. Hossain, U. Killick, S. Lawson, S. Layton, M. Male, A. M. Marsh, J. Mehta, P. Mous, R. Nomdedéu, J. F. Owen, C. Pavlu, J. Payne, E. M. Protheroe, R. E. Preudhomme, C. Pujol-Moix, N. Renneville, A. Russell, N. Saggar, A. Sciuccati, G. Taussig, D. Toze, C. L. Uyttebroeck, A. Vandenberghe, P. Schlegelberger, B. Ripperger, T. Steinemann, D. Wu, J. Mason, J. Page, P. Akiki, S. Reay, K. Cavenagh, J. D. Plagnol, V. Caceres, J. F. Fitzgibbon, J. Dokal, I. |
Issue Date: | 2020 | Source: | 11, (1), 2020 | Journal: | Nature Communications | Abstract: | The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17RA, PRF1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure series (DNAH9, NAPRT1 and SH2B3) or variants at novel loci (DHX34) that appear specific to inherited forms of myeloid malignancies. Altogether, our series of MDS/AML families offer novel insights into the etiology of myeloid malignancies and provide a framework to prioritize variants for inclusion into routine diagnostics and patient management.L20043309342020-03-04 | DOI: | 10.1038/s41467-020-14829-5 | Resources: | https://www.embase.com/search/results?subaction=viewrecord&id=L2004330934&from=exporthttp://dx.doi.org/10.1038/s41467-020-14829-5 | | Keywords: | telomere length;whole exome sequencing;Sanger sequencing;thrombocytopenia;ankyrinCCAAT enhancer binding protein alpha;DEAD box protein;genomic DNA;signal recognition particle;small interfering RNA;telomerase;telomerase reverse transcriptase;transcription factor ETV6;transcription factor GATA 2;transcription factor RUNX1;acute myeloid leukemia;allele;aplastic anemia;pancytopenia;article;bone marrow depression;case report;chemotherapy;child;clinical article;cohort analysis;cytogenetics;DNA hybridization;dysplasia;female;gene deletion;gene frequency;gene locus;gene sequence;genetic analysis;germline mutation;human;major clinical study;male;monosomy 7;multiplex ligation dependent probe amplification;myelodysplastic syndrome;neutropenia;nonsense mediated mRNA decay;phenotype;preschool child | Type: | Article |
| Appears in Sites: | Children's Health Queensland Publications |
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