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@article{Rio-Machin:2020:10.1038/s41467-020-14829-5,
author = {Rio-Machin, A and Vulliamy, T and Hug, N and Walne, A and Tawana, K and Cardoso, S and Ellison, A and Pontikos, N and Wang, J and Tummala, H and Al, Seraihi AFH and Alnajar, J and Bewicke-Copley, F and Armes, H and Barnett, M and Bloor, A and Bodor, C and Bowen, D and Fenaux, P and Green, A and Hallahan, A and Hjorth-Hansen, H and Hossain, U and Killick, S and Lawson, S and Layton, M and Male, AM and Marsh, J and Mehta, P and Mous, R and Nomdedeu, JF and Owen, C and Pavlu, J and Payne, EM and Protheroe, RE and Preudhomme, C and Pujol-Moix, N and Renneville, A and Russell, N and Saggar, A and Sciuccati, G and Taussig, D and Toze, CL and Uyttebroeck, A and Vandenberghe, P and Schlegelberger, B and Ripperger, T and Steinemann, D and Wu, J and Mason, J and Page, P and Akiki, S and Reay, K and Cavenagh, JD and Plagnol, V and Caceres, JF and Fitzgibbon, J and Dokal, I},
doi = {10.1038/s41467-020-14829-5},
journal = {Nature Communications},
pages = {1--12},
title = {The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants},
url = {http://dx.doi.org/10.1038/s41467-020-14829-5},
volume = {11},
year = {2020}
}

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TY  - JOUR
AB  - 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.
AU  - Rio-Machin,A
AU  - Vulliamy,T
AU  - Hug,N
AU  - Walne,A
AU  - Tawana,K
AU  - Cardoso,S
AU  - Ellison,A
AU  - Pontikos,N
AU  - Wang,J
AU  - Tummala,H
AU  - Al,Seraihi AFH
AU  - Alnajar,J
AU  - Bewicke-Copley,F
AU  - Armes,H
AU  - Barnett,M
AU  - Bloor,A
AU  - Bodor,C
AU  - Bowen,D
AU  - Fenaux,P
AU  - Green,A
AU  - Hallahan,A
AU  - Hjorth-Hansen,H
AU  - Hossain,U
AU  - Killick,S
AU  - Lawson,S
AU  - Layton,M
AU  - Male,AM
AU  - Marsh,J
AU  - Mehta,P
AU  - Mous,R
AU  - Nomdedeu,JF
AU  - Owen,C
AU  - Pavlu,J
AU  - Payne,EM
AU  - Protheroe,RE
AU  - Preudhomme,C
AU  - Pujol-Moix,N
AU  - Renneville,A
AU  - Russell,N
AU  - Saggar,A
AU  - Sciuccati,G
AU  - Taussig,D
AU  - Toze,CL
AU  - Uyttebroeck,A
AU  - Vandenberghe,P
AU  - Schlegelberger,B
AU  - Ripperger,T
AU  - Steinemann,D
AU  - Wu,J
AU  - Mason,J
AU  - Page,P
AU  - Akiki,S
AU  - Reay,K
AU  - Cavenagh,JD
AU  - Plagnol,V
AU  - Caceres,JF
AU  - Fitzgibbon,J
AU  - Dokal,I
DO  - 10.1038/s41467-020-14829-5
EP  - 12
PY  - 2020///
SN  - 2041-1723
SP  - 1
TI  - The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants
T2  - Nature Communications
UR  - http://dx.doi.org/10.1038/s41467-020-14829-5
UR  - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000564284600002&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR  - https://www.nature.com/articles/s41467-020-14829-5
UR  - http://hdl.handle.net/10044/1/83112
VL  - 11
ER  -

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