Search

Your search keyword '"Rosenquist, Richard"' showing total 2,508 results
Start Over Author "Rosenquist, Richard"
2,508 results on '"Rosenquist, Richard"'

1. The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia

Author

Hägerstrand, Daniel, Oder, Blaž, Cortese, Diego, Qu, Ying, Binzer-Panchal, Amrei, Österholm, Cecilia, Del Peso Santos, Teresa, Rabbani, Leily, Asl, Hassan Foroughi, Skaftason, Aron, Ljungström, Viktor, Lundholm, August, Koutroumani, Maria, Haider, Zahra, Jylhä, Cecilia, Mollstedt, John, Mansouri, Larry, Plevova, Karla, Agathangelidis, Andreas, Scarfò, Lydia, Armand, Marine, Muggen, Alice F., Kay, Neil E., Shanafelt, Tait, Rossi, Davide, Orre, Lukas M., Pospisilova, Sarka, Barylyuk, Konstantin, Davi, Frederic, Vesterlund, Mattias, Langerak, Anton W., Lehtiö, Janne, Ghia, Paolo, Stamatopoulos, Kostas, Sutton, Lesley-Ann, and Rosenquist, Richard

Published
2024
Full Text
View/download PDF

2. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Author

Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, and Nordgren, Ann

Published
2024
Full Text
View/download PDF

4. IκBε deficiency accelerates disease development in chronic lymphocytic leukemia

Author

Bordini, Jessica, Lenzi, Chiara, Frenquelli, Michela, Morabito, Alessia, Pseftogas, Athanasios, Belloni, Daniela, Mansouri, Larry, Tsiolas, George, Perotta, Eleonora, Ranghetti, Pamela, Gandini, Francesca, Genova, Francesca, Hägerstrand, Daniel, Gavriilidis, Georgios, Keisaris, Sofoklis, Pechlivanis, Nikolaos, Davi, Frederic, Kay, Neil E., Langerak, Anton W., Pospisilova, Sarka, Scarfò, Lydia, Makris, Antonios, Psomopoulos, Fotis E., Stamatopoulos, Kostas, Rosenquist, Richard, Campanella, Alessandro, and Ghia, Paolo

Published
2024
Full Text
View/download PDF

5. The 1+Million Genomes Minimal Dataset for Cancer

Author

Riba, Michela, Sala, Cinzia, Culhane, Aedin C., Flobak, Åsmund, Patocs, Attila, Boye, Kjetil, Plevova, Karla, Pospíšilová, Šárka, Gandolfi, Giorgia, Morelli, Marco J., Bucci, Gabriele, Edsjö, Anders, Lassen, Ulrik, Al-Shahrour, Fátima, Lopez-Bigas, Nuria, Hovland, Randi, Cuppen, Edwin, Valencia, Alfonso, Poirel, Helene A., Rosenquist, Richard, Scollen, Serena, Arenas Marquez, Juan, Belien, Jeroen, De Nicolo, Arcangela, De Maria, Ruggero, Torrents, David, and Tonon, Giovanni

Published
2024
Full Text
View/download PDF

6. Frequent ZNF217 mutations lead to transcriptional deregulation of interferon signal transduction via altered chromatin accessibility in B cell lymphoma

Author

Briest, Franziska, Noerenberg, Daniel, Hennch, Cornelius, Yoshida, Kenichi, Hablesreiter, Raphael, Nimo, Jose, Sasca, Daniel, Kirchner, Marieluise, Mansouri, Larry, Inoue, Yoshikage, Wiegand, Laura, Staiger, Annette M., Casadei, Beatrice, Korkolopoulou, Penelope, Weiner, January, Lopez-Guillermo, Armando, Warth, Arne, Schneider, Tamás, Nagy, Ákos, Klapper, Wolfram, Hummel, Michael, Kanellis, George, Anagnostopoulos, Ioannis, Mertins, Philipp, Bullinger, Lars, Rosenquist, Richard, Vassilakopoulos, Theodoros P., Ott, German, Ogawa, Seishi, and Damm, Frederik

Published
2023
Full Text
View/download PDF

8. Diagnostic yield and clinical impact of germline sequencing in children with CNS and extracranial solid tumors—a nationwide, prospective Swedish study

Author

Tesi, Bianca, Robinson, Kristina Lagerstedt, Abel, Frida, Díaz de Ståhl, Teresita, Orrsjö, Sara, Poluha, Anna, Hellberg, Maria, Wessman, Sandra, Samuelsson, Sofie, Frisk, Tony, Vogt, Hartmut, Henning, Karin, Sabel, Magnus, Ek, Torben, Pal, Niklas, Nyman, Per, Giraud, Geraldine, Wille, Joakim, Pronk, Cornelis Jan, Norén-Nyström, Ulrika, Borssén, Magnus, Fili, Maria, Stålhammar, Gustav, Herold, Nikolas, Tettamanti, Giorgio, Maya-Gonzalez, Carolina, Arvidsson, Linda, Rosén, Anna, Ekholm, Katja, Kuchinskaya, Ekaterina, Hallbeck, Anna-Lotta, Nordling, Margareta, Palmebäck, Pia, Kogner, Per, Smoler, Gunilla Kanter, Lähteenmäki, Päivi, Fransson, Susanne, Martinsson, Tommy, Shamik, Alia, Mertens, Fredrik, Rosenquist, Richard, Wirta, Valtteri, Tham, Emma, Grillner, Pernilla, Sandgren, Johanna, Ljungman, Gustaf, Gisselsson, David, Taylan, Fulya, and Nordgren, Ann

Published
2024
Full Text
View/download PDF

10. Impact of the Types and Relative Quantities of IGHV Gene Mutations in Predicting Prognosis of Patients With Chronic Lymphocytic Leukemia

Author

Kaufman, Matthew, Yan, Xiao-Jie, Li, Wentian, Ghia, Emanuela M, Langerak, Anton W, Rassenti, Laura Z, Belessi, Chrysoula, Kay, Neil E, Davi, Frederic, Byrd, John C, Pospisilova, Sarka, Brown, Jennifer R, Catherwood, Mark, Davis, Zadie, Oscier, David, Montillo, Marco, Trentin, Livio, Rosenquist, Richard, Ghia, Paolo, Barrientos, Jacqueline C, Kolitz, Jonathan E, Allen, Steven L, R., Kanti, Stamatopoulos, Kostas, Kipps, Thomas J, Neuberg, Donna, and Chiorazzi, Nicholas

Subjects
Biomedical and Clinical Sciences, Cardiovascular Medicine and Haematology, Lymphoma, Cancer, Hematology, Lymphatic Research, Rare Diseases, CLL, chronic lymphocytic leukemia, immunoglobulin variable domain, prognosis, somatic mutations, Oncology and Carcinogenesis, Clinical sciences, Oncology and carcinogenesis
Abstract

Patients with CLL with mutated IGHV genes (M-CLL) have better outcomes than patients with unmutated IGHVs (U-CLL). Since U-CLL usually express immunoglobulins (IGs) that are more autoreactive and more effectively transduce signals to leukemic B cells, B-cell receptor (BCR) signaling is likely at the heart of the worse outcomes of CLL cases without/few IGHV mutations. A corollary of this conclusion is that M-CLL follow less aggressive clinical courses because somatic IGHV mutations have altered BCR structures and no longer bind stimulatory (auto)antigens and so cannot deliver trophic signals to leukemic B cells. However, the latter assumption has not been confirmed in a large patient cohort. We tried to address the latter by measuring the relative numbers of replacement (R) mutations that lead to non-conservative amino acid changes (Rnc) to the combined numbers of conservative (Rc) and silent (S) amino acid R mutations that likely do not or cannot change amino acids, "(S+Rc) to Rnc IGHV mutation ratio". When comparing time-to-first-treatment (TTFT) of patients with (S+Rc)/Rnc ≤ 1 and >1, TTFTs were similar, even after matching groups for equal numbers of samples and identical numbers of mutations per sample. Thus, BCR structural change might not be the main reason for better outcomes for M-CLL. Since the total number of IGHV mutations associated better with longer TTFT, better clinical courses appear due to the biologic state of a B cell having undergone many stimulatory events leading to IGHV mutations. Analyses of larger patient cohorts will be needed to definitively answer this question.

Published
2022

11. Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Published
2023
Full Text
View/download PDF

13. BTK and PLCG2 remain unmutated in one-third of patients with CLL relapsing on ibrutinib

Author

Bonfiglio, Silvia, Sutton, Lesley-Ann, Ljungström, Viktor, Capasso, Antonella, Pandzic, Tatjana, Weström, Simone, Foroughi-Asl, Hassan, Skaftason, Aron, Gellerbring, Anna, Lyander, Anna, Gandini, Francesca, Gaidano, Gianluca, Trentin, Livio, Bonello, Lisa, Reda, Gianluigi, Bödör, Csaba, Stavroyianni, Niki, Tam, Constantine S., Marasca, Roberto, Forconi, Francesco, Panayiotidis, Panayiotis, Ringshausen, Ingo, Jaksic, Ozren, Frustaci, Anna Maria, Iyengar, Sunil, Coscia, Marta, Mulligan, Stephen P., Ysebaert, Loïc, Strugov, Vladimir, Pavlovsky, Carolina, Walewska, Renata, Österborg, Anders, Cortese, Diego, Ranghetti, Pamela, Baliakas, Panagiotis, Stamatopoulos, Kostas, Scarfò, Lydia, Rosenquist, Richard, and Ghia, Paolo

Published
2023
Full Text
View/download PDF

16. Implementing precision medicine in a regionally organized healthcare system in Sweden

Author

Fioretos, Thoas, Wirta, Valtteri, Cavelier, Lucia, Berglund, Eva, Friedman, Mikaela, Akhras, Michael, Botling, Johan, Ehrencrona, Hans, Engstrand, Lars, Helenius, Gisela, Fagerqvist, Therese, Gisselsson, David, Gruvberger-Saal, Sofia, Gyllensten, Ulf, Heidenblad, Markus, Höglund, Kina, Jacobsson, Bo, Johansson, Maria, Johansson, Åsa, Soller, Maria Johansson, Landström, Maréne, Larsson, Pär, Levin, Lars-Åke, Lindstrand, Anna, Lovmar, Lovisa, Lyander, Anna, Melin, Malin, Nordgren, Ann, Nordmark, Gunnel, Mölling, Paula, Palmqvist, Lars, Palmqvist, Richard, Repsilber, Dirk, Sikora, Per, Stenmark, Bianca, Söderkvist, Peter, Stranneheim, Henrik, Strid, Tobias, Wheelock, Craig E., Wadelius, Mia, Wedell, Anna, Edsjö, Anders, and Rosenquist, Richard

Published
2022
Full Text
View/download PDF

17. Proteogenomics refines the molecular classification of chronic lymphocytic leukemia

Author

Herbst, Sophie A., Vesterlund, Mattias, Helmboldt, Alexander J., Jafari, Rozbeh, Siavelis, Ioannis, Stahl, Matthias, Schitter, Eva C., Liebers, Nora, Brinkmann, Berit J., Czernilofsky, Felix, Roider, Tobias, Bruch, Peter-Martin, Iskar, Murat, Kittai, Adam, Huang, Ying, Lu, Junyan, Richter, Sarah, Mermelekas, Georgios, Umer, Husen Muhammad, Knoll, Mareike, Kolb, Carolin, Lenze, Angela, Cao, Xiaofang, Österholm, Cecilia, Wahnschaffe, Linus, Herling, Carmen, Scheinost, Sebastian, Ganzinger, Matthias, Mansouri, Larry, Kriegsmann, Katharina, Kriegsmann, Mark, Anders, Simon, Zapatka, Marc, Del Poeta, Giovanni, Zucchetto, Antonella, Bomben, Riccardo, Gattei, Valter, Dreger, Peter, Woyach, Jennifer, Herling, Marco, Müller-Tidow, Carsten, Rosenquist, Richard, Stilgenbauer, Stephan, Zenz, Thorsten, Huber, Wolfgang, Tausch, Eugen, Lehtiö, Janne, and Dietrich, Sascha

Published
2022
Full Text
View/download PDF

21. Scope and Nature of Pain- and Analgesia-Related Content of the United States Medical Licensing Examination (USMLE)

Author

Fishman, Scott M, Carr, Daniel B, Hogans, Beth, Cheatle, Martin, Gallagher, Rollin M, Katzman, Joanna, Mackey, Sean, Polomano, Rosemary, Popescu, Adrian, Rathmell, James P, Rosenquist, Richard W, Tauben, David, Beckett, Laurel, Li, Yueju, Mongoven, Jennifer M, and Young, Heather M

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Health Sciences, Clinical Research, Pain Research, Chronic Pain, Neurosciences, Generic health relevance, Quality Education, Clinical Competence, Education, Medical, Undergraduate, Educational Measurement, Humans, Licensure, Medical, Pain Management, Pain Content, Education, Competency, USMLE, Pharmacology and Pharmaceutical Sciences, Public Health and Health Services, Anesthesiology, Clinical sciences, Health services and systems, Clinical and health psychology
Abstract

Background"The ongoing opioid crisis lies at the intersection of two substantial public health challenges-reducing the burden of suffering from pain and containing the rising toll of the harms that can result from the use of opioid medications" [1]. Improved pain education for health care providers is an essential component of the multidimensional response to both still-unmet challenges [2,3]. Despite the importance of licensing examinations in assuring competency in health care providers, there has been no prior appraisal of pain and related content within the United States Medical Licensing Examination (USMLE).MethodsAn expert panel developed a novel methodology for characterizing USMLE questions based on pain core competencies and topical and public health relevance.ResultsUnder secure conditions, raters used this methodology to score 1,506 questions, with 28.7% (432) identified as including the word "pain." Of these, 232 questions (15.4% of the 1,506 USMLE questions reviewed) were assessed as being fully or partially related to pain, rather than just mentioning pain but not testing knowledge of its mechanisms and their implications for treatment. The large majority of questions related to pain (88%) focused on assessment rather than safe and effective pain management, or the context of pain.ConclusionsThis emphasis on assessment misses other important aspects of safe and effective pain management, including those specific to opioid safety. Our findings inform ways to improve the long-term education of our medical and other graduates, thereby improving the health care of the populations they serve.

Published
2018

23. Diagnostic Yield From a Nationwide Implementation of Precision Medicine for all Children With Cancer

Author

Wadensten, Elisabeth, Wessman, Sandra, Abel, Frida, Diaz De Ståhl, Teresita, Tesi, Bianca, Orsmark Pietras, Christina, Arvidsson, Linda, Taylan, Fulya, Fransson, Susanne, Vogt, Hartmut, Poluha, Anna, Pradhananga, Sailendra, Hellberg, Maria, Lagerstedt-Robinson, Kristina, Raj Somarajan, Praveen, Samuelsson, Sofie, Orrsjö, Sara, Maqbool, Khurram, Henning, Karin, Strid, Tobias, Ek, Torben, Fagman, Henrik, Olsson Bontell, Thomas, Martinsson, Tommy, Puls, Florian, Kogner, Per, Wirta, Valtteri, Pronk, Cornelis Jan, Wille, Joakim, Rosenquist, Richard, Nistér, Monica, Mertens, Fredrik, Sabel, Magnus, Norén-Nyström, Ulrika, Grillner, Pernilla, Nordgren, Ann, Ljungman, Gustaf, Sandgren, Johanna, and Gisselsson, David

Published
2023
Full Text
View/download PDF

25. Higher-order connections between stereotyped subsets: implications for improved patient classification in CLL

Author

Agathangelidis, Andreas, Chatzidimitriou, Anastasia, Gemenetzi, Katerina, Giudicelli, Veronique, Karypidou, Maria, Plevova, Karla, Davis, Zadie, Yan, Xiao-Jie, Jeromin, Sabine, Schneider, Christof, Pedersen, Lone Bredo, Tschumper, Renee C., Sutton, Lesley-Ann, Baliakas, Panagiotis, Scarfò, Lydia, van Gastel, Ellen J., Armand, Marine, Tausch, Eugen, Biderman, Bella, Baer, Constance, Bagnara, Davide, Navarro, Alba, Langlois de Septenville, Anne, Guido, Valentina, Mitterbauer-Hohendanner, Gerlinde, Dimovski, Aleksandar, Brieghel, Christian, Lawless, Sarah, Meggendorfer, Manja, Brazdilova, Kamila, Ritgen, Matthias, Facco, Monica, Tresoldi, Cristina, Visentin, Andrea, Patriarca, Andrea, Catherwood, Mark, Bonello, Lisa, Sudarikov, Andrey, Vanura, Katrina, Roumelioti, Maria, Skuhrova Francova, Hana, Moysiadis, Theodoros, Veronese, Silvio, Giannopoulos, Krzysztof, Mansouri, Larry, Karan-Djurasevic, Teodora, Sandaltzopoulos, Raphael, Bödör, Csaba, Fais, Franco, Kater, Arnon, Panovska, Irina, Rossi, Davide, Alshemmari, Salem, Panagiotidis, Panagiotis, Costeas, Paul, Espinet, Blanca, Antic, Darko, Foroni, Letizia, Montillo, Marco, Trentin, Livio, Stavroyianni, Niki, Gaidano, Gianluca, Francia di Celle, Paola, Niemann, Carsten, Campo, Elias, Anagnostopoulos, Achilles, Pott, Christiane, Fischer, Kirsten, Hallek, Michael, Oscier, David, Stilgenbauer, Stephan, Haferlach, Claudia, Jelinek, Diane, Chiorazzi, Nicholas, Pospisilova, Sarka, Lefranc, Marie-Paule, Kossida, Sofia, Langerak, Anton W., Belessi, Chrysoula, Davi, Frederic, Rosenquist, Richard, Ghia, Paolo, and Stamatopoulos, Kostas

Published
2021
Full Text
View/download PDF

26. Triggering interferon signaling in T cells with avadomide sensitizes CLL to anti-PD-L1/PD-1 immunotherapy

Author

Ioannou, Nikolaos, Hagner, Patrick R., Stokes, Matt, Gandhi, Anita K., Apollonio, Benedetta, Fanous, Mariam, Papazoglou, Despoina, Sutton, Lesley-Ann, Rosenquist, Richard, Amini, Rose-Marie, Chiu, Hsiling, Lopez-Girona, Antonia, Janardhanan, Preethi, Awan, Farrukh T., Jones, Jeffrey, Kay, Neil E., Shanafelt, Tait D., Tallman, Martin S., Stamatopoulos, Kostas, Patten, Piers E.M., Vardi, Anna, and Ramsay, Alan G.

Published
2021
Full Text
View/download PDF

27. The 1+Million Genomes Minimal Dataset for Cancer

Author

CMM Groep Van Mil, Riba, Michela, Sala, Cinzia, Culhane, Aedin C., Flobak, Åsmund, Patocs, Attila, Boye, Kjetil, Plevova, Karla, Pospíšilová, Šárka, Gandolfi, Giorgia, Morelli, Marco J., Bucci, Gabriele, Edsjö, Anders, Lassen, Ulrik, Al-Shahrour, Fátima, Lopez-Bigas, Nuria, Hovland, Randi, Cuppen, Edwin, Valencia, Alfonso, Poirel, Helene A., Rosenquist, Richard, Scollen, Serena, Arenas Marquez, Juan, Belien, Jeroen, De Nicolo, Arcangela, De Maria, Ruggero, Torrents, David, Tonon, Giovanni, CMM Groep Van Mil, Riba, Michela, Sala, Cinzia, Culhane, Aedin C., Flobak, Åsmund, Patocs, Attila, Boye, Kjetil, Plevova, Karla, Pospíšilová, Šárka, Gandolfi, Giorgia, Morelli, Marco J., Bucci, Gabriele, Edsjö, Anders, Lassen, Ulrik, Al-Shahrour, Fátima, Lopez-Bigas, Nuria, Hovland, Randi, Cuppen, Edwin, Valencia, Alfonso, Poirel, Helene A., Rosenquist, Richard, Scollen, Serena, Arenas Marquez, Juan, Belien, Jeroen, De Nicolo, Arcangela, De Maria, Ruggero, Torrents, David, and Tonon, Giovanni

Published
2024

28. High-throughput molecular assays for inclusion in personalised oncology trials – State-of-the-art and beyond

Author

Edsjö, Anders, Russnes, Hege G., Lehtiö, Janne, Tamborero, David, Hovig, Eivind, Stenzinger, Albrecht, Rosenquist, Richard, Janowska, Agnieszka, Rioja, Alba López, Razzak, Ali, Lepland, Anni, Marra, Antonio, Planken, Anu, Helland, Åslaug, Patocs, Attila, Mainoli, Beatrice, Ryll, Bettina, Brasiuniene, Birute, Kazdal, Daniel, Cerina, Dora, Hult, Ebba Hallersjö, Baltruškevičienė, Edita, Vrdoljak, Eduard, Chavarria, Elena, Garralda, Elena, Aas, Eline, Bjørgo, Elisa, Voest, Emile, Curigliano, Giuseppe, Fagereng, Gro Live, Gelderblom, Hans, Verheul, Henk, Timmer, Hans, Brana, Irene, Lugowska, Iwona, Blay, Jean Yves, Oliveira, Julio, Rekker, Kadri, Toome, Kadri, Jalkanen, Katriina, Taskén, Kjetil, Smeland, Knut, Ojamaa, Kristiina, Rohrberg, Kristoffer Staal, Verlingue, Loic, Antouly, Manon, Mustonen, Mika, Zagami, Paola, Nagy, Péter, Nygren, Peter, Asplund, Peter, Sabaliauskaite, Rasa, Henrique, Rui, van Waalwijk van Doorn-Khosrovani, Sahar Barjesteh, Brabrand, Sigmund, Ekman, Simon, Mohammad, Soemeya Haj, Jarmalaite, Sonata, Juslin, Tanja, Kahre, Tiina, Kringelbach, Tina, Guren, Tormod, Lassen, Ulrik, Grolmusz, Vince Kornél, Alberu, Xenia Villabour, Edsjö, Anders, Russnes, Hege G., Lehtiö, Janne, Tamborero, David, Hovig, Eivind, Stenzinger, Albrecht, Rosenquist, Richard, Janowska, Agnieszka, Rioja, Alba López, Razzak, Ali, Lepland, Anni, Marra, Antonio, Planken, Anu, Helland, Åslaug, Patocs, Attila, Mainoli, Beatrice, Ryll, Bettina, Brasiuniene, Birute, Kazdal, Daniel, Cerina, Dora, Hult, Ebba Hallersjö, Baltruškevičienė, Edita, Vrdoljak, Eduard, Chavarria, Elena, Garralda, Elena, Aas, Eline, Bjørgo, Elisa, Voest, Emile, Curigliano, Giuseppe, Fagereng, Gro Live, Gelderblom, Hans, Verheul, Henk, Timmer, Hans, Brana, Irene, Lugowska, Iwona, Blay, Jean Yves, Oliveira, Julio, Rekker, Kadri, Toome, Kadri, Jalkanen, Katriina, Taskén, Kjetil, Smeland, Knut, Ojamaa, Kristiina, Rohrberg, Kristoffer Staal, Verlingue, Loic, Antouly, Manon, Mustonen, Mika, Zagami, Paola, Nagy, Péter, Nygren, Peter, Asplund, Peter, Sabaliauskaite, Rasa, Henrique, Rui, van Waalwijk van Doorn-Khosrovani, Sahar Barjesteh, Brabrand, Sigmund, Ekman, Simon, Mohammad, Soemeya Haj, Jarmalaite, Sonata, Juslin, Tanja, Kahre, Tiina, Kringelbach, Tina, Guren, Tormod, Lassen, Ulrik, Grolmusz, Vince Kornél, and Alberu, Xenia Villabour

Abstract

In the last decades, the development of high-throughput molecular assays has revolutionised cancer diagnostics, paving the way for the concept of personalised cancer medicine. This progress has been driven by the introduction of such technologies through biomarker-driven oncology trials. In this review, strengths and limitations of various state-of-the-art sequencing technologies, including gene panel sequencing (DNA and RNA), whole-exome/whole-genome sequencing and whole-transcriptome sequencing, are explored, focusing on their ability to identify clinically relevant biomarkers with diagnostic, prognostic and/or predictive impact. This includes the need to assess complex biomarkers, for example microsatellite instability, tumour mutation burden and homologous recombination deficiency, to identify patients suitable for specific therapies, including immunotherapy. Furthermore, the crucial role of biomarker analysis and multidisciplinary molecular tumour boards in selecting patients for trial inclusion is discussed in relation to various trial concepts, including drug repurposing. Recognising that today's exploratory techniques will evolve into tomorrow's routine diagnostics and clinical study inclusion assays, the importance of emerging technologies for multimodal diagnostics, such as proteomics and in vivo drug sensitivity testing, is also discussed. In addition, key regulatory aspects and the importance of patient engagement in all phases of a clinical trial are described. Finally, we propose a set of recommendations for consideration when planning a new precision cancer medicine trial.image

Published
2024

29. Micro-costing of genetic diagnostics in acute leukemia in Sweden : from standard-of-care to whole-genome sequencing

Author

Thangavelu, Tharshini, Wirta, Valtteri, Orsmark-Pietras, Christina, Cavelier, Lucia, Fioretos, Thoas, Barbany, Gisela, Olsson-Arvidsson, Linda, Pandzic, Tatjana, Staffas, Anna, Rosenquist, Richard, Levin, Lars-Åke, Thangavelu, Tharshini, Wirta, Valtteri, Orsmark-Pietras, Christina, Cavelier, Lucia, Fioretos, Thoas, Barbany, Gisela, Olsson-Arvidsson, Linda, Pandzic, Tatjana, Staffas, Anna, Rosenquist, Richard, and Levin, Lars-Åke

Abstract

Aims and background Whole-genome sequencing (WGS) is increasingly applied in clinical practice and expected to replace standard-of-care (SoC) genetic diagnostics in hematological malignancies. This study aims to assess and compare the fully burdened cost (‘micro-costing’) per patient for Swedish laboratories using WGS and SoC, respectively, in pediatric and adult patients with acute lymphoblastic leukemia (ALL) and acute myeloid leukemia (AML). Methods The resource use and cost details associated with SoC, e.g. chromosome banding analysis, fluorescent in situ hybridization, and targeted sequencing analysis, were collected via activity-based costing methods from four diagnostic laboratories. For WGS, corresponding data was collected from two of the centers. A simulation-based scenario model was developed for analyzing the WGS cost based on different annual sample throughput to evaluate economy of scale. Results The average SoC total cost per patient was €2,465 for pediatric AML and €2,201 for pediatric ALL, while in adults, the corresponding cost was €2,458 for AML and €1,207 for ALL. The average WGS cost (90x tumor/30x normal; sequenced on the Illumina NovaSeq 6000 platform) was estimated to €3,472 based on an annual throughput of 2,500 analyses, however, with an annual volume of 7,500 analyses the average cost would decrease by 23% to €2,671. Conclusion In summary, WGS is currently more costly than SoC, however the cost can be reduced by utilizing laboratories with higher throughput and by the expected decline in cost of reagents. Our data provides guidance to decision-makers for the resource allocation needed when implementing WGS in diagnostics of hematological malignancies.

Published
2024
Full Text
View/download PDF

30. Precision Diagnostics in Myeloid Malignancies: Development and Validation of a National Capture-Based Gene Panel

Author

Orsmark-Pietras, Christina, Lyander, Anna, Ladenvall, Claes, Hallström, Björn, Staffas, Anna, Awier, Hero, Krstic, Aleksandra, Baliakas, Panagiotis, Barbany, Gisela, Håkansson, Cecilia Brunhoff, Gellerbring, Anna, Hagström, Anna, Hellström-Lindberg, Eva, Juliusson, Gunnar, Lazarevic, Vladimir, Munters, Arielle, Pandzic, Tatjana, Wadelius, Mia, Ås, Joel, Fogelstrand, Linda, Wirta, Valtteri, Rosenquist, Richard, Cavelier, Lucia, Fioretos, Thoas, Orsmark-Pietras, Christina, Lyander, Anna, Ladenvall, Claes, Hallström, Björn, Staffas, Anna, Awier, Hero, Krstic, Aleksandra, Baliakas, Panagiotis, Barbany, Gisela, Håkansson, Cecilia Brunhoff, Gellerbring, Anna, Hagström, Anna, Hellström-Lindberg, Eva, Juliusson, Gunnar, Lazarevic, Vladimir, Munters, Arielle, Pandzic, Tatjana, Wadelius, Mia, Ås, Joel, Fogelstrand, Linda, Wirta, Valtteri, Rosenquist, Richard, Cavelier, Lucia, and Fioretos, Thoas

Abstract

Gene panel sequencing has become a common diagnostic tool for detecting somatically acquired mutations in myeloid neoplasms. However, many panels have restricted content, provide insufficient sensitivity levels, or lack clinically validated workflows. We here describe the development and validation of the Genomic Medicine Sweden myeloid gene panel (GMS-MGP), a capture-based 191 gene panel including mandatory genes in contemporary guidelines as well as emerging candidates. The GMS-MGP displayed uniform coverage across all targets, including recognized difficult GC-rich areas. The validation of 117 previously described somatic variants showed a 100% concordance with a limit-of-detection of a 0.5% variant allele frequency (VAF), achieved by utilizing error correction and filtering against a panel-of-normals. A national interlaboratory comparison investigating 56 somatic variants demonstrated highly concordant results in both detection rate and reported VAFs. In addition, prospective analysis of 323 patients analyzed with the GMS-MGP as part of standard-of-care identified clinically significant genes as well as recurrent mutations in less well-studied genes. In conclusion, the GMS-MGP workflow supports sensitive detection of all clinically relevant genes, facilitates novel findings, and is, based on the capture-based design, easy to update once new guidelines become available. The GMS-MGP provides an important step toward nationally harmonized precision diagnostics of myeloid malignancies., QC 20240823

Published
2024
Full Text
View/download PDF

31. Genetic Characterization of Primary Mediastinal B-Cell Lymphoma : Pathogenesis and Patient Outcomes

Author

Noerenberg, Daniel, Briest, Franziska, Hennch, Cornelius, Yoshida, Kenichi, Hablesreiter, Raphael, Takeuchi, Yasuhide, Ueno, Hiroo, Staiger, Annette M., Ziepert, Marita, Asmar, Fazila, Locher, Benjamin N., Toth, Erika, Weber, Thomas, Amini, Rose-Marie, Klapper, Wolfram, Bouzani, Maria, Poeschel, Viola, Rosenwald, Andreas, Held, Gerhard, Campo, Elias, Ishaque, Naveed, Stamatopoulos, Kostas, Kanellis, George, Anagnostopoulos, Ioannis, Bullinger, Lars, Goldschmidt, Neta, Zinzani, Pier Luigi, Bödör, Csaba, Rosenquist, Richard, Vassilakopoulos, Theodoros P., Ott, German, Ogawa, Seishi, Damm, Frederik, Noerenberg, Daniel, Briest, Franziska, Hennch, Cornelius, Yoshida, Kenichi, Hablesreiter, Raphael, Takeuchi, Yasuhide, Ueno, Hiroo, Staiger, Annette M., Ziepert, Marita, Asmar, Fazila, Locher, Benjamin N., Toth, Erika, Weber, Thomas, Amini, Rose-Marie, Klapper, Wolfram, Bouzani, Maria, Poeschel, Viola, Rosenwald, Andreas, Held, Gerhard, Campo, Elias, Ishaque, Naveed, Stamatopoulos, Kostas, Kanellis, George, Anagnostopoulos, Ioannis, Bullinger, Lars, Goldschmidt, Neta, Zinzani, Pier Luigi, Bödör, Csaba, Rosenquist, Richard, Vassilakopoulos, Theodoros P., Ott, German, Ogawa, Seishi, and Damm, Frederik

Abstract

Purpose Primary mediastinal large B-cell lymphoma (PMBCL) is a rare aggressive lymphoma predominantly affecting young female patients. Large-scale genomic investigations and genetic markers for risk stratification are lacking. Patients and Methods To elucidate the full spectrum of genomic alterations, samples from 340 patients with previously untreated PMBCL were investigated by whole-genome (n = 20), whole-exome (n = 78), and targeted (n = 308) sequencing. Statistically significant prognostic variables were identified using a multivariable Cox regression model and confirmed by L1/L2 regularized regressions. Results Whole-genome sequencing revealed a commonly disrupted p53 pathway with nonredundant somatic structural variations (SVs) in TP53-related genes (TP63, TP73, and WWOX) and identified novel SVs facilitating immune evasion (DOCK8 and CD83). Integration of mutation and copy-number data expanded the repertoire of known PMBCL alterations (eg, ARID1A, P2RY8, and PLXNC1) with a previously unrecognized role for epigenetic/chromatin modifiers. Multivariable analysis identified six genetic lesions with significant prognostic impact. CD58 mutations (31%) showed the strongest association with worse PFS (hazard ratio [HR], 2.52 [95% CI, 1.50 to 4.21]; P < .001) and overall survival (HR, 2.33 [95% CI, 1.14 to 4.76]; P = .02). IPI high-risk patients with mutated CD58 demonstrated a particularly poor prognosis, with 5-year PFS and OS rates of 41% and 58%, respectively. The adverse prognostic significance of the CD58 mutation status was predominantly observed in patients treated with nonintensified regimens, indicating that dose intensification may, to some extent, mitigate the impact of this high-risk marker. By contrast, DUSP2-mutated patients (24%) displayed durable responses (PFS: HR, 0.2 [95% CI, 0.07 to 0.55]; P = .002) and prolonged OS (HR, 0.11 [95% CI, 0.01 to 0.78]; P = .028). Upon CHOP-like treatment, these patients had very favorable outcome, with 5-year PFS

Published
2024
Full Text
View/download PDF

35. Correction: Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

Author

Mansouri, Larry, Thorvaldsdottir, Birna, Sutton, Lesley-Ann, Karakatsoulis, Georgios, Meggendorfer, Manja, Parker, Helen, Nadeu, Ferran, Brieghel, Christian, Laidou, Stamatia, Moia, Riccardo, Rossi, Davide, Catherwood, Mark, Kotaskova, Jana, Delgado, Julio, Rodríguez-Vicente, Ana E., Benito, Rocío, Rigolin, Gian Matteo, Bonfiglio, Silvia, Scarfo, Lydia, Mattsson, Mattias, Davis, Zadie, Gogia, Ajay, Rani, Lata, Baliakas, Panagiotis, Foroughi-Asl, Hassan, Jylhä, Cecilia, Skaftason, Aron, Rapado, Inmaculada, Miras, Fatima, Martinez-Lopez, Joaquín, de la Serna, Javier, Rivas, Jesús María Hernández, Thornton, Patrick, Larráyoz, María José, Calasanz, María José, Fésüs, Viktória, Mátrai, Zoltán, Bödör, Csaba, Smedby, Karin E., Espinet, Blanca, Puiggros, Anna, Gupta, Ritu, Bullinger, Lars, Bosch, Francesc, Tazón-Vega, Bárbara, Baran-Marszak, Fanny, Oscier, David, Nguyen-Khac, Florence, Zenz, Thorsten, Terol, Maria Jose, Cuneo, Antonio, Hernández-Sánchez, María, Pospisilova, Sarka, Mills, Ken, Gaidano, Gianluca, Niemann, Carsten U., Campo, Elias, Strefford, Jonathan C., Ghia, Paolo, Stamatopoulos, Kostas, and Rosenquist, Richard

Published
2023
Full Text
View/download PDF

36. Proliferative History Is a Novel Driver of Clinical Outcome in Splenic Marginal Zone Lymphoma

Author

Parker, Helen, primary, Mirandari, Amatta, additional, Oquendo, Carolina Jaramillo, additional, Duran-Ferrer, Martí, additional, Stevens, Benjamin, additional, Buermann, Lara, additional, Amarasinghe, Harindra E., additional, Thomas, Jaya, additional, Kadalayil, Latha, additional, Carr, Louise, additional, Syeda, Shama, additional, Sakthipakan, Methusha, additional, Parry, Marina, additional, Davis, Zadie, additional, McIver-Brown, Neil, additional, Xochelli, Aliki, additional, Ennis, Sarah, additional, Scarfo, Lydia, additional, Ghia, Paolo, additional, Kalpadakis, Christina, additional, Pangalis, Gerassimos, additional, Rossi, Davide, additional, Wagner, Simon, additional, Ahearne, Matthew, additional, Seifert, Marc, additional, Plass, Christoph, additional, Weichenhan, Dieter, additional, Kimby, Eva, additional, Sutton, Lesley-Ann, additional, Rosenquist, Richard, additional, Forconi, Francesco, additional, Stamatopoulos, Kostas, additional, Salido, Marta, additional, Ferrer, Ana, additional, Thieblemont, Catherine, additional, Ljungström, Viktor, additional, Amini, Rose-Marie, additional, Oscier, David, additional, Walewska, Renata, additional, Rose-Zerilli, Matthew J.J., additional, Gibson, Jane, additional, Martín-Subero, José Ignacio, additional, Oakes, Christopher, additional, Bryant, Dean, additional, and Strefford, Jonathan C, additional

Published
2024
Full Text
View/download PDF

38. Genetic Characterization of Primary Mediastinal B-Cell Lymphoma: Pathogenesis and Patient Outcomes

Author

Noerenberg, Daniel, primary, Briest, Franziska, additional, Hennch, Cornelius, additional, Yoshida, Kenichi, additional, Hablesreiter, Raphael, additional, Takeuchi, Yasuhide, additional, Ueno, Hiroo, additional, Staiger, Annette M., additional, Ziepert, Marita, additional, Asmar, Fazila, additional, Locher, Benjamin N., additional, Toth, Erika, additional, Weber, Thomas, additional, Amini, Rose-Marie, additional, Klapper, Wolfram, additional, Bouzani, Maria, additional, Poeschel, Viola, additional, Rosenwald, Andreas, additional, Held, Gerhard, additional, Campo, Elías, additional, Ishaque, Naveed, additional, Stamatopoulos, Kostas, additional, Kanellis, George, additional, Anagnostopoulos, Ioannis, additional, Bullinger, Lars, additional, Goldschmidt, Neta, additional, Zinzani, Pier Luigi, additional, Bödör, Csaba, additional, Rosenquist, Richard, additional, Vassilakopoulos, Theodoros P., additional, Ott, German, additional, Ogawa, Seishi, additional, and Damm, Frederik, additional

Published
2023
Full Text
View/download PDF

39. Clinical significance of DNA methylation in chronic lymphocytic leukemia patients: results from 3 UK clinical trials

Author

Wojdacz, Tomasz K., Amarasinghe, Harindra E., Kadalayil, Latha, Beattie, Alice, Forster, Jade, Blakemore, Stuart J., Parker, Helen, Bryant, Dean, Larrayoz, Marta, Clifford, Ruth, Robbe, Pauline, Davis, Zadie A., Else, Monica, Howard, Dena R., Stamatopoulos, Basile, Steele, Andrew J., Rosenquist, Richard, Collins, Andrew, Pettitt, Andrew R., Hillmen, Peter, Plass, Christoph, Schuh, Anna, Catovsky, Daniel, Oscier, David G., Rose-Zerilli, Matthew J.J., Oakes, Christopher C., and Strefford, Jonathan C.

Published
2019
Full Text
View/download PDF

44. Different time-dependent changes of risk for evolution in chronic lymphocytic leukemia with mutated or unmutated antigen B cell receptors

Author

Moysiadis, Theodoros, Baliakas, Panagiotis, Rossi, Davide, Catherwood, Mark, Strefford, Jonathan C., Delgado, Julio, Anagnostopoulos, Achilles, Belessi, Chrysoula, Stavroyianni, Niki, Pospisilova, Sarka, Oscier, David, Gaidano, Gianluca, Campo, Elias, Rosenquist, Richard, Ghia, Paolo, and Stamatopoulos, Kostas

Published
2019
Full Text
View/download PDF

45. Common variants at 12p11, 12q24, 9p21, 9q31.2 and in ZNF365 are associated with breast cancer risk for BRCA1 and/or BRCA2 mutation carriers

Author

Antoniou, Antonis C, Kuchenbaecker, Karoline B, Soucy, Penny, Beesley, Jonathan, Chen, Xiaoqing, McGuffog, Lesley, Lee, Andrew, Barrowdale, Daniel, Healey, Sue, Sinilnikova, Olga M, Caligo, Maria A, Loman, Niklas, Harbst, Katja, Lindblom, Annika, Arver, Brita, Rosenquist, Richard, Karlsson, Per, Nathanson, Kate, Domchek, Susan, Rebbeck, Tim, Jakubowska, Anna, Lubinski, Jan, Jaworska, Katarzyna, Durda, Katarzyna, Złowowcka-Perłowska, Elżbieta, Osorio, Ana, Durán, Mercedes, Andrés, Raquel, Benítez, Javier, Hamann, Ute, Hogervorst, Frans B, van Os, Theo A, Verhoef, Senno, Meijers-Heijboer, Hanne EJ, Wijnen, Juul, Gómez Garcia, Encarna B, Ligtenberg, Marjolijn J, Kriege, Mieke, Collée, J Margriet, Ausems, Margreet GEM, Oosterwijk, Jan C, Peock, Susan, Frost, Debra, Ellis, Steve D, Platte, Radka, Fineberg, Elena, Evans, D Gareth, Lalloo, Fiona, Jacobs, Chris, Eeles, Ros, Adlard, Julian, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Douglas, Fiona, Brewer, Carole, Hodgson, Shirley, Morrison, Patrick J, Walker, Lisa, Rogers, Mark T, Donaldson, Alan, Dorkins, Huw, Godwin, Andrew K, Bove, Betsy, Stoppa-Lyonnet, Dominique, Houdayer, Claude, Buecher, Bruno, de Pauw, Antoine, Mazoyer, Sylvie, Calender, Alain, Léoné, Mélanie, Bressac- de Paillerets, Brigitte, Caron, Olivier, Sobol, Hagay, Frenay, Marc, Prieur, Fabienne, Ferrer, Sandra, Mortemousque, Isabelle, Buys, Saundra, Daly, Mary, Miron, Alexander, Terry, Mary, Hopper, John L, John, Esther M, Southey, Melissa, Goldgar, David, Singer, Christian F, Fink-Retter, Anneliese, Tea, Muy-Kheng, Kaulich, Daphne, Hansen, Thomas VO, Nielsen, Finn C, Barkardottir, Rosa B, Gaudet, Mia, Kirchhoff, Tomas, Joseph, Vijai, Dutra-Clarke, Ana, Offit, Kenneth, and Piedmonte, Marion

Abstract

AbstractIntroductionSeveral common alleles have been shown to be associated with breast and/or ovarian cancer risk for BRCA1 and BRCA2 mutation carriers. Recent genome-wide association studies of breast cancer have identified eight additional breast cancer susceptibility loci: rs1011970 (9p21, CDKN2A/B), rs10995190 (ZNF365), rs704010 (ZMIZ1), rs2380205 (10p15), rs614367 (11q13), rs1292011 (12q24), rs10771399 (12p11 near PTHLH) and rs865686 (9q31.2). MethodsTo evaluate whether these single nucleotide polymorphisms (SNPs) are associated with breast cancer risk for BRCA1 and BRCA2 carriers, we genotyped these SNPs in 12599 BRCA1 and 7132 BRCA2 mutation carriers and analysed the associations with breast cancer risk within a retrospective likelihood framework. ResultsOnly SNP rs10771399 near PTHLH was associated with breast cancer risk for BRCA1 mutation carriers (per-allele Hazard Ratio (HR)= 0.87, 95%CI:0.81-0.94, P-trend=3x10^-4). The association was restricted to mutations proven or predicted to lead to absence of protein expression (HR=0.82, 95%CI:0.74-0.90, P-trend=3.1x10^-5, P-difference=0.03). Four SNPs were associated with the risk of breast cancer for BRCA2 mutation carriers: rs10995190, P-trend=0.015; rs1011970, P-trend=0.048; rs865686, 2df-P=0.007; rs1292011 2df-P=0.03. rs10771399 (PTHLH) was predominantly associated with estrogen receptor (ER)-negative breast cancer for BRCA1 mutation carriers (HR=0.81, 95%CI: 0.74-0.90, P-trend=4x10^-5) and there was marginal evidence of association with ER-negative breast cancer for BRCA2 mutation carriers (HR=0.78, 95%CI:0.62-1.00, P-trend=0.049). ConclusionsThe present findings, in combination with previously identified modifiers of risk, will ultimately lead to more accurate risk prediction and an improved understanding of the disease etiology in BRCA1 and BRCA2 mutation carriers.

Published
2012

47. Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

Author

Rezayee, Fatemah, primary, Eisfeldt, Jesper, additional, Skaftason, Aron, additional, Öfverholm, Ingegerd, additional, Sayyab, Shumaila, additional, Syvänen, Ann Christine, additional, Maqbool, Khurram, additional, Lilljebjörn, Henrik, additional, Johansson, Bertil, additional, Olsson-Arvidsson, Linda, additional, Pietras, Christina Orsmark, additional, Staffas, Anna, additional, Palmqvist, Lars, additional, Fioretos, Thoas, additional, Cavelier, Lucia, additional, Fogelstrand, Linda, additional, Nordlund, Jessica, additional, Wirta, Valtteri, additional, Rosenquist, Richard, additional, and Barbany, Gisela, additional

Published
2023
Full Text
View/download PDF

50. P605: IMMUNOGENETICS AND ANTIGEN REACTIVITY PROFILING CONTRIBUTE TO UNRAVELLING THE ONTOGENY OF CLL STEREOTYPED SUBSET #4

Author

Iatrou, Anastasia, primary, Sofou, Electra, additional, Kotroni, Eleni, additional, Ann Sutton, Lesley, additional, Frenquelli, Michela, additional, Sandaltzopoulos, Raphael, additional, Sakellari, Ioanna, additional, Stavrogianni, Niki, additional, Psomopoulos, Fotis, additional, Ghia, Paolo, additional, Rosenquist, Richard, additional, Agathangelidis, Andreas, additional, Chatzidimitriou, Anastasia, additional, and Stamatopoulos, Kostas, additional

Published
2023
Full Text
View/download PDF

Catalog

Books, media, physical & digital resources
See catalog results