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    The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

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    Authors
    Rio-Machin, A
    Vulliamy, T
    Hug, N
    Walne, A
    Tawana, K
    Cardoso, S
    Ellison, A
    Pontikos, N
    Wang, J
    Tummala, H
    Al, Seraihi, AFH
    Alnajar, J
    Bewicke-Copley, F
    Armes, H
    Barnett, M
    Bloor, Adrian
    Bodor, C
    Bowen, D
    Fenaux, P
    Green, A
    Hallahan, A
    Hjorth-Hansen, H
    Hossain, U
    Killick, S
    Lawson, S
    Layton, M
    Male, AM
    Marsh, J
    Mehta, P
    Mous, R
    Nomdedeu, JF
    Owen, C
    Pavlu, J
    Payne, EM
    Protheroe, RE
    Preudhomme, C
    Pujol-Moix, N
    Renneville, A
    Russell, N
    Saggar, A
    Sciuccati, G
    Taussig, D
    Toze, CL
    Uyttebroeck, A
    Vandenberghe, P
    Schlegelberger, B
    Ripperger, T
    Steinemann, D
    Wu, J
    Mason, J
    Page, P
    Akiki, S
    Reay, K
    Cavenagh, JD
    Plagnol, V
    Caceres, JF
    Fitzgibbon, J
    Dokal, I
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    Affiliation
    Centre for Haemato-Oncology, Barts Cancer Institute, Queen Mary University of London, London, UK
    Issue Date
    2020
    
    Metadata
    Show full item record
    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.
    Citation
    Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, et al. The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants. Nat Commun. 2020;11:1044.
    Journal
    Nature Communications
    URI
    http://hdl.handle.net/10541/622834
    DOI
    10.1038/s41467-020-14829-5
    PubMed ID
    32098966
    Additional Links
    https://dx.doi.org/10.1038/s41467-020-14829-5
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1038/s41467-020-14829-5
    Scopus Count
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