Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

Autor: Wei-Yu Lin, Sarah E. Fordham, Eric Hungate, Nicola J. Sunter, Claire Elstob, Yaobo Xu, Catherine Park, Anne Quante, Konstantin Strauch, Christian Gieger, Andrew Skol, Thahira Rahman, Lara Sucheston-Campbell, Junke Wang, Theresa Hahn, Alyssa I. Clay-Gilmour, Gail L. Jones, Helen J. Marr, Graham H. Jackson, Tobias Menne, Mathew Collin, Adam Ivey, Robert K. Hills, Alan K. Burnett, Nigel H. Russell, Jude Fitzgibbon, Richard A. Larson, Michelle M. Le Beau, Wendy Stock, Olaf Heidenreich, Abrar Alharbi, David J. Allsup, Richard S. Houlston, Jean Norden, Anne M. Dickinson, Elisabeth Douglas, Clare Lendrem, Ann K. Daly, Louise Palm, Kim Piechocki, Sally Jeffries, Martin Bornhäuser, Christoph Röllig, Heidi Altmann, Leo Ruhnke, Desiree Kunadt, Lisa Wagenführ, Heather J. Cordell, Rebecca Darlay, Mette K. Andersen, Maria C. Fontana, Giovanni Martinelli, Giovani Marconi, Miguel A. Sanz, José Cervera, Inés Gómez-Seguí, Thomas Cluzeau, Chimène Moreilhon, Sophie Raynaud, Heinz Sill, Maria Teresa Voso, Francesco Lo-Coco, Hervé Dombret, Meyling Cheok, Claude Preudhomme, Rosemary E. Gale, David Linch, Julia Gaal-Wesinger, Andras Masszi, Daniel Nowak, Wolf-Karsten Hofmann, Amanda Gilkes, Kimmo Porkka, Jelena D. Milosevic Feenstra, Robert Kralovics, David Grimwade, Manja Meggendorfer, Torsten Haferlach, Szilvia Krizsán, Csaba Bödör, Friedrich Stölzel, Kenan Onel, James M. Allan

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)

Genome wide association studies in cancer are used to understand the heritable genetic contribution to disease risk. Here, the authors perform a genome wide association study in European patients with acute myeloid leukemia and identify loci associat

Externí odkaz: https://doaj.org/article/b98174c0ab9448b282785b148dd6b082

β thalassemia major due to acquired uniparental disomy in a previously healthy adolescent

Autor: Celeste Bento, Tabita M. Maia, Jelena D. Milosevic, Isabel M. Carreira, Robert Kralovics, M. Leticia Ribeiro

Publikováno v: Haematologica, Vol 98, Iss 1 (2013)

Externí odkaz: https://doaj.org/article/2f749721953347dfab6b72a86a8cfd2e

PD‐L1 overexpression correlates with JAK2 ‐V617F mutational burden and is associated with 9p uniparental disomy in myeloproliferative neoplasms

Autor: Jelena D. Milosevic Feenstra, Roland Jäger, Fiorella Schischlik, Daniel Ivanov, Gregor Eisenwort, Elisa Rumi, Michael Schuster, Bettina Gisslinger, Sigrid Machherndl‐Spandl, Peter Bettelheim, Maria‐Theresa Krauth, Felix Keil, Christoph Bock, Mario Cazzola, Heinz Gisslinger, Robert Kralovics, Peter Valent

Publikováno v: American Journal of Hematology. 97:390-400

Myeloproliferative neoplasms (MPN) are chronic stem cell disorders characterized by enhanced proliferation of myeloid cells, immune deregulation, and drug resistance. JAK2 somatic mutations drive the disease in 50-60% and CALR mutations in 25-30% of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::282b49f4a24211a5e03e54dd9e5109aa
https://doi.org/10.1002/ajh.26461

Genome-wide association study identifies susceptibility loci for acute myeloid leukemia

Autor: Anne M. Dickinson, Gail Jones, David C. Linch, Clare Lendrem, David Grimwade, Richard A. Larson, Andrew D. Skol, Yaobo Xu, Adam Ivey, Wei-Yu Lin, Manja Meggendorfer, Rosemary E. Gale, Inés Gómez-Seguí, Giovani Marconi, Jean Norden, Jude Fitzgibbon, Mette K. Andersen, M Bornhäuser, Sarah E. Fordham, Amanda F. Gilkes, Heinz Sill, Eric A. Hungate, José Cervera, Friedrich Stölzel, Julia Gaal-Wesinger, Kim Piechocki, Wendy Stock, Theresa Hahn, Konstantin Strauch, David Allsup, Kenan Onel, Claire Elstob, Alyssa I. Clay-Gilmour, Nicola J. Sunter, Jelena D. Milosevic Feenstra, Meyling Cheok, Abrar Alharbi, Ann K. Daly, Sally Jeffries, Lisa Wagenführ, Olaf Heidenreich, Robert Kralovics, Alan K. Burnett, Giovanni Martinelli, Desiree Kunadt, Christian Gieger, Francesco Lo-Coco, Leo Ruhnke, Maria Teresa Voso, Junke Wang, Catherine Park, Nigel H. Russell, Chimène Moreilhon, Robert Kerrin Hills, Claude Preudhomme, Graham Jackson, Daniel Nowak, Maria Chiara Fontana, James M. Allan, Heidi Altmann, Richard S. Houlston, Anne S. Quante, Michelle M. Le Beau, Thahira Rahman, Christoph Röllig, Rebecca Darlay, Sophie Raynaud, Helen Marr, Csaba Bödör, Louise Palm, Thomas Cluzeau, Szilvia Krizsán, Heather J. Cordell, Mathew Collin, Torsten Haferlach, Lara E. Sucheston-Campbell, Wolf-Karsten Hofmann, Kimmo Porkka, Andras Masszi, Hervé Dombret, Miguel A. Sanz, Elisabeth Douglas, Tobias Menne

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-10 (2021)
Nat. Commun. 12:6233 (2021)
Nature Communications

Acute myeloid leukemia (AML) is a hematological malignancy with an undefined heritable risk. Here we perform a meta-analysis of three genome-wide association studies, with replication in a fourth study, incorporating a total of 4018 AML cases and 104

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66da5a2f677e98ca34ff7ab5930a5dd3
http://hdl.handle.net/10138/337099

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