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A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk

Autor: Marco Dicanio, Matteo Giaccherini, Alyssa Clay‐Gilmour, Angelica Macauda, Juan Sainz, Mitchell J. Machiela, Malwina Rybicka‐Ramos, Aaron D. Norman, Agata Tyczyńska, Stephen J. Chanock, Torben Barington, Shaji K. Kumar, Parveen Bhatti, Wendy Cozen, Elizabeth E. Brown, Anna Suska, Eva K. Haastrup, Robert Z. Orlowski, Marek Dudziński, Ramon Garcia‐Sanz, Marcin Kruszewski, Joaquin Martinez‐Lopez, Katia Beider, Elżbieta Iskierka‐Jazdzewska, Matteo Pelosini, Sonja I. Berndt, Małgorzata Raźny, Krzysztof Jamroziak, S. Vincent Rajkumar, Artur Jurczyszyn, Annette Juul Vangsted, Pilar Garrido Collado, Ulla Vogel, Jonathan N. Hofmann, Mario Petrini, Aleksandra Butrym, Susan L. Slager, Elad Ziv, Edyta Subocz, Graham G. Giles, Niels Frost Andersen, Grzegorz Mazur, Marzena Watek, Fabienne Lesueur, Michelle A. T. Hildebrandt, Daria Zawirska, Lene Hyldahl Ebbesen, Herlander Marques, Federica Gemignani, Charles Dumontet, Judit Várkonyi, Gabriele Buda, Arnon Nagler, Agnieszka Druzd‐Sitek, Xifeng Wu, Katalin Kadar, Nicola J. Camp, Norbert Grzasko, Rosalie G. Waller, Celine Vachon, Federico Canzian, Daniele Campa

Publikováno v: Dicanio, M, Giaccherini, M, Clay-Gilmour, A, Macauda, A, Sainz, J, Machiela, M J, Rybicka-Ramos, M, Norman, A D, Tyczyńska, A, Chanock, S J, Barington, T, Kumar, S K, Bhatti, P, Cozen, W, Brown, E E, Suska, A, Haastrup, E K, Orlowski, R Z, Dudziński, M, Garcia-Sanz, R, Kruszewski, M, Martinez-Lopez, J, Beider, K, Iskierka-Jazdzewska, E, Pelosini, M, Berndt, S I, Raźny, M, Jamroziak, K, Rajkumar, S V, Jurczyszyn, A, Vangsted, A J, Collado, P G, Vogel, U, Hofmann, J N, Petrini, M, Butrym, A, Slager, S L, Ziv, E, Subocz, E, Giles, G G, Andersen, N F, Mazur, G, Watek, M, Lesueur, F, Hildebrandt, M A T, Zawirska, D, Ebbesen, L H, Marques, H, Gemignani, F, Dumontet, C, Várkonyi, J, Buda, G, Nagler, A, Druzd-Sitek, A, Wu, X, Kadar, K, Camp, N J, Grzasko, N, Waller, R G, Vachon, C, Canzian, F & Campa, D 2023, ' A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk ', International Journal of Cancer, vol. 152, no. 2, pp. 239-248 . https://doi.org/10.1002/ijc.34278

Pleiotropy, which consists of a single gene or allelic variant affecting multiple unrelated traits, is common across cancers, with evidence for genome-wide significant loci shared across cancer and noncancer traits. This feature is particularly relev

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::32837a0c51884be8e4eff22a1b4fa8ed
https://doi.org/10.1002/ijc.34278

Does a Multiple Myeloma Polygenic Risk Score Predict Overall Survival of Patients with Myeloma?

Autor: Angelica Macauda, Alyssa Clay-Gilmour, Thomas Hielscher, Michelle A.T. Hildebrandt, Marcin Kruszewski, Robert Z. Orlowski, Shaji K. Kumar, Elad Ziv, Enrico Orciuolo, Elizabeth E. Brown, Asta Försti, Rosalie G. Waller, Mitchell J. Machiela, Stephen J. Chanock, Nicola J. Camp, Marcin Rymko, Małgorzata Raźny, Wendy Cozen, Judit Várkonyi, Chiara Piredda, Matteo Pelosini, Alem A. Belachew, Edyta Subocz, Kari Hemminki, Malwina Rybicka-Ramos, Graham G. Giles, Roger L. Milne, Jonathan N. Hofmann, Jan Maciej Zaucha, Annette Juul Vangsted, Hartmut Goldschmidt, S. Vincent Rajkumar, Waldemar Tomczak, Juan Sainz, Aleksandra Butrym, Marzena Watek, Elżbieta Iskierka-Jazdzewska, Gabriele Buda, Dennis P. Robinson, Artur Jurczyszyn, Marek Dudziński, Joaquin Martinez-Lopez, Jason P. Sinnwell, Susan L. Slager, Krzysztof Jamroziak, Rui Manuel Vieira Reis, Niels Weinhold, Parveen Bhatti, Luis G. Carvajal-Carmona, Daria Zawirska, Aaron D. Norman, Grzegorz Mazur, Sonja I. Berndt, Daniele Campa, Celine M. Vachon, Federico Canzian

Publikováno v: Cancer Epidemiology, Biomarkers & Prevention. 31:1863-1866

Background: Genome-wide association studies (GWAS) of multiple myeloma in populations of European ancestry (EA) identified and confirmed 24 susceptibility loci. For other cancers (e.g., colorectum and melanoma), risk loci have also been associated wi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2473cc9140d45ab42faf9fc6ba1d46af
https://doi.org/10.1158/1055-9965.epi-22-0043

Refined diagnostic criteria for bone marrow mastocytosis : a proposal of the European competence network on mastocytosis

Autor: Anna Belloni Fortina, Khalid Shoumariyeh, Aleksandra Górska, Hans Hägglund, Oleksii Solomianyi, Francesca Caroppo, Andreas Reiter, Michel Arock, Bjorn van Anrooij, Peter Valent, Akif Selim Yavuz, Cecelia Perkins, Jason Gotlib, Cornelius Miething, Alexander Zink, Massimiliano Bonifacio, William Shomali, Christine Breynaert, Julien Rossignol, Mohamad Jawhar, Chiara Elena, Michael Doubek, Marek Niedoszytko, Sabine Müller, Jens Panse, Wolfgang R. Sperr, Luca Malcovati, Emir Hadzijusufovic, Vladan Vucinic, Vito Sabato, Judit Várkonyi, Patrizia Bonadonna, Massimo Triggiani, Anja Illerhaus, Luigi Scaffidi, Roberta Parente, Roberta Zanotti, Friederike Wortmann, Hanneke Oude Elberink, Hanneke C. Kluin-Nelemans, Magdalena Lange, Mattias Mattsson, Karin Hartmann, Olivier Hermine, Irena Angelova-Fischer, Tanja Schug, Knut Brockow, Giuseppe Lucchini

Publikováno v: Leukemia
Leukemia, 36(2). Nature Publishing Group

In the current classification of the World Health Organization (WHO), bone marrow mastocytosis (BMM) is a provisional variant of indolent systemic mastocytosis (ISM) defined by bone marrow involvement and absence of skin lesions. However, no addition

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7272311c3a5a3327b7b1ebba5253b625
https://hdl.handle.net/10067/1817700151162165141

The Data Registry of the European Competence Network on Mastocytosis (ECNM): Set Up, Projects, and Perspectives

Autor: Magdalena Lange, Jens Panse, Karoline V. Gleixner, Massimo Triggiani, Elisabeth Aberer, Andreas Reiter, Nikolas von Bubnoff, Roberta Parente, Haifa Kathrin Al-Ali, Knut Brockow, Serena Merante, Olivier Hermine, Akif Selim Yavuz, Patrizia Bonadonna, Chiara Elena, Anja Illerhaus, Olivier Lortholary, Marek Niedoszytko, Hans Hägglund, Bjorn van Anrooij, David Fuchs, Hanneke C. Kluin-Nelemans, Dietger Niederwieser, Emir Hadzijusufovic, Luca Malcovati, Wolfgang R. Sperr, Marie-Anne Morren, Jason Gotlib, Michael Doubek, Mattias Mattsson, Francesca Caroppo, Alexander Zink, Rosemarie Greul, Cecelia Perkins, Vanessa E Kennedy, Massimiliano Bonifacio, Mohamad Jawhar, Joanna N G Oude Elberink, Peter Valent, Judit Várkonyi, Roberta Zanotti, Michel Arock, Anna Belloni Fortina, Khalid Shoumariyeh, Aleksandra Górska, Juliana Schwaab, Karin Hartmann, Vito Sabato

Publikováno v: The journal of allergy and clinical immunology. In practice

Mastocytosis is a unique hematologic neoplasm with complex biology and pathology and a variable clinical course. The disease can essentially be divided into cutaneous mastocytosis (CM) and systemic mastocytosis (SM). In adults, SM is diagnosed in mos

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8a91ef509018070bbf60d9f78e053fa
https://doi.org/10.1016/j.jaip.2018.09.024