The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
| العنوان: | The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants |
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| المؤلفون: | Aline Renneville, Judith C. W. Marsh, Carolyn Owen, Andrew Green, Rogier Mous, Jude Fitzgibbon, Andrew R. Hallahan, David Taussig, Jun Wang, Josep F. Nomdedeu, Ahad F. Al Seraihi, Mark Layton, Nikolas Pontikos, Doris Steinemann, Kim Reay, Vincent Plagnol, Rachel Protheroe, Tim Ripperger, Susanna Akiki, Joanne Mason, Upal Hossain, Henrik Hjorth-Hansen, Anne Uyttebroeck, Amanda J. Walne, Nigel H. Russell, Jenna Alnajar, Nele Hug, Claude Preudhomme, Jamie Cavenagh, Findlay Bewicke-Copley, Csaba Bödör, Kiran Tawana, Adrian Bloor, Cynthia L. Toze, Alicia Ellison, Paula Page, Gabriela Sciuccati, Inderjeet Dokal, Tom Vulliamy, John K. Wu, Jiri Pavlu, Peter Vandenberghe, Hemanth Tummala, Elspeth Payne, Michael L. Barnett, David T. Bowen, Brigitte Schlegelberger, Priyanka Mehta, Ana Rio-Machin, Alison Male, Shirleny Cardoso, Hannah Armes, Anand Saggar, Sarah Lawson, Nuria Pujol-Moix, Javier F. Cáceres, Pierre Fenaux, Sally Killick |
| المصدر: | Nature Communications r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau) Dipòsit Digital de Documents de la UAB Universitat Autònoma de Barcelona Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020) 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, Alnajar, J, Bewicke-Copley, F, Armes, H, Barnett, M, Bloor, A, Bodor, C, Bowen, D, Fenaux, P, Green, A, Hallahan, A, Hjorth-Hansen, H, Hossain, U, Killick, S, Lawson, S, Layton, M, Male, A M, Marsh, J, Mehta, P, Mous, R, Nomdedeu, J F, Owen, C, Pavlu, J, Payne, E, Protheroe, R, Predhomme, C, Pujol-Moix, N, Renneville, A, Russell, N, Saggar, A, Sciuccati, G, Taussig, D, Toze, C, Uyttebroeck, A, Vandenberghe, P, Schlegelberger, B, Ripperger, T, Steinemann, D, Wu, J, Mason, J, Page, P, El Akiki, S, Reay, K, Cavenagh, J D, Plagnol, V, Caceres, J F, Fitzgibbon, J & Dokal, I 2020, ' The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants ', Nature Communications . https://doi.org/10.1038/s41467-020-14829-5 r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau instname |
| بيانات النشر: | NATURE PORTFOLIO, 2020. |
| سنة النشر: | 2020 |
| مصطلحات موضوعية: | 0301 basic medicine, Myeloid, Adenosine Deaminase, Vesicular Transport Proteins, General Physics and Astronomy, DYSKERATOSIS-CONGENITA, Whole Exome Sequencing, Cohort Studies, 0302 clinical medicine, hemic and lymphatic diseases, CEBPA, Cancer genomics, RUNX1 MUTATIONS, lcsh:Science, Exome sequencing, MYELODYSPLASTIC SYNDROME, Genetics, Multidisciplinary, Receptors, Interleukin-17, Myeloid leukemia, SAMD9L MUTATIONS CAUSE, Pedigree, Multidisciplinary Sciences, Leukemia, Leukemia, Myeloid, Acute, medicine.anatomical_structure, 030220 oncology & carcinogenesis, Science & Technology - Other Topics, RNA Helicases, Platelet disorder, Science, LINE, ACUTE MYELOID-LEUKEMIA, Platelet Membrane Glycoproteins, Biology, General Biochemistry, Genetics and Molecular Biology, Article, Acute myeloid leukaemia, 03 medical and health sciences, Germline mutation, PLATELET DISORDER, Exome Sequencing, medicine, Humans, MECHANISTIC INSIGHTS, Germ-Line Mutation, Adaptor Proteins, Signal Transducing, Science & Technology, Perforin, Myelodysplastic syndromes, General Chemistry, Axonemal Dyneins, medicine.disease, Nonsense Mediated mRNA Decay, SELF-RENEWAL, 030104 developmental biology, Myelodysplastic Syndromes, lcsh:Q |
| الوصف: | 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. Familial myeloid malignancies have recently been classified as separate disease entities. Here, using whole-exome sequencing of affected pedigrees - the authors highlight genetic variants associated with these conditions. |
| وصف الملف: | Electronic; application/pdf |
| اللغة: | English |
| تدمد: | 2041-1723 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43441adab8bb9b0f13c4acc683573c5e https://lirias.kuleuven.be/handle/123456789/652151 |
| حقوق: | OPEN |
| رقم الأكسشن: | edsair.doi.dedup.....43441adab8bb9b0f13c4acc683573c5e |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20411723 |
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