dc.contributor.author | Rio-Machin, Ana | |
dc.contributor.author | Villiamy, Tom | |
dc.contributor.author | Hug, Nele | |
dc.contributor.author | Walne, Amanda | |
dc.contributor.author | Tawana, Kiran | |
dc.contributor.author | Cardoso, Shirleny | |
dc.contributor.author | Ellison, Alicia | |
dc.contributor.author | Pontikos, Nikolas | |
dc.contributor.author | Wang, Jun | |
dc.contributor.author | Tummala, Hemanth | |
dc.contributor.author | Al Seraihi, Ahad Fahad H. | |
dc.contributor.author | Alnajar, Jenna | |
dc.contributor.author | Bewicke-Copley, Findlay | |
dc.contributor.author | Barnett, Michael | |
dc.contributor.author | Armes, Hannah | |
dc.contributor.author | Bloor, Adrian | |
dc.contributor.author | Bödör, Csabo | |
dc.contributor.author | Bowen, David | |
dc.contributor.author | Fenaux, Pierre | |
dc.contributor.author | Green, Andrew | |
dc.contributor.author | Hallahan, Andrew | |
dc.contributor.author | Hjorth-Hansen, Henrik | |
dc.contributor.author | Hossein, Upal | |
dc.contributor.author | Killick, Sally | |
dc.contributor.author | Lawson, Sarah | |
dc.contributor.author | Layton, Mark | |
dc.contributor.author | Male, Alison M. | |
dc.contributor.author | Marsh, Judith | |
dc.contributor.author | Mehta, Priyanka | |
dc.contributor.author | Mous, Rogier | |
dc.contributor.author | Nomdedéu, Josep F. | |
dc.contributor.author | Owen, Carolyn | |
dc.contributor.author | Pavlu, Jiri | |
dc.contributor.author | Payne, Elspeth | |
dc.contributor.author | Protheroe, Rachel E. | |
dc.contributor.author | Preudhomme, Claude | |
dc.contributor.author | Pujol-Moix, Nuria | |
dc.contributor.author | Renneville, Aline | |
dc.contributor.author | Russell, Nigel | |
dc.contributor.author | Saggar, Anand | |
dc.contributor.author | Sciuccati, Gabriela | |
dc.contributor.author | Taussig, David | |
dc.contributor.author | Toze, Cynthia | |
dc.contributor.author | Uyttebroeck, Anne | |
dc.contributor.author | Vandenberghe, Peter | |
dc.contributor.author | Schlegelberger, Brigitte | |
dc.contributor.author | Ripperger, Tim | |
dc.contributor.author | Steinemann, Doris | |
dc.contributor.author | Wu, John | |
dc.contributor.author | Mason, Joanne | |
dc.contributor.author | Page, Paula | |
dc.contributor.author | Akiki, Susanna | |
dc.contributor.author | Reay, Kim | |
dc.contributor.author | Cavenagh, Jamie D. | |
dc.contributor.author | Plagnol, Vincent | |
dc.contributor.author | Caceres, Javier F. | |
dc.contributor.author | Fitzgibbon, Jude | |
dc.contributor.author | Dokal, Inderjeet | |
dc.date.accessioned | 2021-01-07T12:08:07Z | |
dc.date.available | 2021-01-07T12:08:07Z | |
dc.date.created | 2021-01-06T12:59:00Z | |
dc.date.issued | 2020 | |
dc.identifier.issn | 2041-1723 | |
dc.identifier.uri | https://hdl.handle.net/11250/2722007 | |
dc.description.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. | en_US |
dc.language.iso | eng | en_US |
dc.publisher | Nature Communications | en_US |
dc.rights | Navngivelse 4.0 Internasjonal | * |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/deed.no | * |
dc.title | The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants | en_US |
dc.type | Peer reviewed | en_US |
dc.type | Journal article | en_US |
dc.description.version | publishedVersion | en_US |
dc.source.journal | Nature Communications | en_US |
dc.identifier.doi | 10.1038/s41467-020-14829-5 | |
dc.identifier.cristin | 1866303 | |
dc.description.localcode | © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/ licenses/by/4.0/. | en_US |
cristin.ispublished | true | |
cristin.fulltext | original | |
cristin.qualitycode | 2 | |