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

Autor: Ana Rio-Machin, Tom Vulliamy, Nele Hug, Amanda Walne, Kiran Tawana, Shirleny Cardoso, Alicia Ellison, Nikolas Pontikos, Jun Wang, Hemanth Tummala, Ahad Fahad H. Al Seraihi, Jenna Alnajar, Findlay Bewicke-Copley, Hannah Armes, Michael Barnett, Adrian Bloor, Csaba Bödör, David Bowen, Pierre Fenaux, Andrew Green, Andrew Hallahan, Henrik Hjorth-Hansen, Upal Hossain, Sally Killick, Sarah Lawson, Mark Layton, Alison M. Male, Judith Marsh, Priyanka Mehta, Rogier Mous, Josep F. Nomdedéu, Carolyn Owen, Jiri Pavlu, Elspeth M. Payne, Rachel E. Protheroe, Claude Preudhomme, Nuria Pujol-Moix, Aline Renneville, Nigel Russell, Anand Saggar, Gabriela Sciuccati, David Taussig, Cynthia L. Toze, Anne Uyttebroeck, Peter Vandenberghe, Brigitte Schlegelberger, Tim Ripperger, Doris Steinemann, John Wu, Joanne Mason, Paula Page, Susanna Akiki, Kim Reay, Jamie D. Cavenagh, Vincent Plagnol, Javier F. Caceres, Jude Fitzgibbon, Inderjeet Dokal

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)

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.

Externí odkaz: https://doaj.org/article/a25bb12eaf454851a551304c03cbab09

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

Autor: 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

Publikováno v: Nature Communications
r-IIB SANT PAU: Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut d’Investigació 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
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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 myel

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43441adab8bb9b0f13c4acc683573c5e
https://lirias.kuleuven.be/handle/123456789/652151

Successful pregnancy in the context of previously undiagnosed chronic lymphocytic leukaemia: A case report and literature review

Autor: Khawar Hussain, Farshad Tahmasebi, Manish Gupta, Georgina Smart, Upal Hossain

Publikováno v: Obstetric Medicine. 10:189-191

An asymptomatic 36-year-old woman presented with significantly elevated white blood cells (165.9 × 109/L) at antenatal booking, in her first pregnancy. Further investigations revealed the diagnosis of chronic lymphocytic leukaemia with monoallelic d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9b914d768e9bd5af582f7710d3df9d4
https://doi.org/10.1177/1753495x17701319

Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia

Autor: Mark Velangi, Aloysius Ho, Amanda J. Walne, Inderjeet Dokal, Vincent Plagnol, Upal Hossain, Tom Vulliamy, Michael Kirwan

Publikováno v: The American Journal of Human Genetics. 90:888-892

Aplastic anemia (AA) and myelodysplasia (MDS) are forms of bone marrow failure that are often part of the same progressive underlying disorder. While most cases are simplex and idiopathic, some show a clear pattern of inheritance; therefore, elucidat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aba21b8f6e9fc2e8e167594eae82d761
https://doi.org/10.1016/j.ajhg.2012.03.020

Telomere length measurement can distinguish pathogenic from non‐pathogenic variants in the shelterin component, TIN2

Autor: Inderjeet Dokal, Michael Kirwan, Amanda J. Walne, Tom Vulliamy, Richard Beswick, Upal Hossain

Publikováno v: Clinical Genetics

Dyskeratosis congenita (DC) is a heterogeneous disorder, both genetically and phenotypically (1). Clinical presentation is classically defined by a triad of mucocutaneous features: abnormal reticulate skin pigmentation, nail dystrophy and leukoplakia

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a7b271546de15d63232824d05111589
https://doi.org/10.1111/j.1399-0004.2010.01605.x