A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
The cancer-risk variant frequency among Polish population reported by the first national whole-genome sequencing study.
Frontiers In Oncology
Mroczek, Magdalena M; Liu, Jakub J; Sypniewski, Mateusz M; Pieńkowski, Tadeusz T; Itrych, Bartosz B; Stojak, Joanna J; Pronobis-Szczylik, Bartosz B; Stępień, Maria M; Kaja, Elżbieta E; Dąbrowski, Maciej M; Suchocki, Tomasz T; Wojtaszewska, Marzena M; Zawadzki, Paweł P; Mach, Anna A; Sztromwasser, Paweł P; Król, Zbigniew J ZJ; Szyda, Joanna J; Dobosz, Paula P
Publication Date: 2023
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser
Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.
Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
Epidemiology and Molecular Profile of Mucosal Melanoma: A Population-Based Study in Southern Europe.
Cancers
Carbó-Bagué, Anna A; Rubió-Casadevall, Jordi J; Puigdemont, Montserrat M; Sanvisens, Arantza A; Oliveras, Glòria G; Coll, Mònica M; Del Olmo, Bernat B; Perez-Bueno, Ferran F; Marcos-Gragera, Rafael R
The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.
British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser; rs142269166
A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology.
Acta Neuropathologica Communications
Lorenz, Julia J; Rothhammer-Hampl, Tanja T; Zoubaa, Saida S; Bumes, Elisabeth E; Pukrop, Tobias T; Kölbl, Oliver O; Corbacioglu, Selim S; Schmidt, Nils O NO; Proescholdt, Martin M; Hau, Peter P; Riemenschneider, Markus J MJ
Monitoring of clonal evolution of acute myeloid leukemia identifies the leukemia subtype, clinical outcome and potential new drug targets for post-remission strategies or relapse.
Haematologica
Onecha, Esther E; Rapado, Inmaculada I; Luz Morales, María M; Carreño-Tarragona, Gonzalo G; Martinez-Sanchez, Pilar P; Gutierrez, Xabier X; Sáchez Pina, José María JM; Linares, María M; Gallardo, Miguel M; Martinez-López, Joaquín J; Ayala, Rosa R
Publication Date: 2021-09-01
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser
Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.
Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020
Variant appearance in text: JAK2: 3323A>G; rs142269166
Diagnosis and prognosis are supported by integrated assessment of next-generation sequencing in chronic myeloid malignancies. A real-life study.
Haematologica
Vantyghem, Sophie S; Peterlin, Pierre P; Thépot, Sylvain S; Ménard, Audrey A; Dubruille, Viviane V; Debord, Camille C; Guillaume, Thierry T; Garnier, Alice A; Le Bourgeois, Amandine A; Wuilleme, Soraya S; Godon, Catherine C; Theisen, Olivier O; Eveillard, Marion M; Delaunay, Jacques J; Maisonneuve, Hervé H; Morineau, Nadine N; Villemagne, Bruno B; Vigouroux, Stéphane S; Subiger, François F; Lestang, Elsa E; Loirat, Marion M; Parcelier, Anne A; Godmer, Pascal P; Mercier, Mélanie M; Trebouet, Adrien A; Luque Paz, Damien D; Le Calloch, Ronan R; Le Clech, Lenaig L; Bossard, Céline C; Moreau, Anne A; Ugo, Valérie V; Hunault, Mathilde M; Moreau, Philippe P; Le Gouill, Steven S; Chevallier, Patrice P; Béné, Marie C MC; Le Bris, Yannick Y
Publication Date: 2021-03-01
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser
Genomics of lethal prostate cancer at diagnosis and castration resistance.
The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01
Variant appearance in text: JAK2: 3323A>G; N1108S; rs142269166
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser; rs142269166
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: JAK2: N1108S; rs142269166
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser; rs142269166
Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Scientific Reports
Feliubadaló, Lídia L; Tonda, Raúl R; Gausachs, Mireia M; Trotta, Jean-Rémi JR; Castellanos, Elisabeth E; López-Doriga, Adriana A; Teulé, Àlex À; Tornero, Eva E; Del Valle, Jesús J; Gel, Bernat B; Gut, Marta M; Pineda, Marta M; González, Sara S; Menéndez, Mireia M; Navarro, Matilde M; Capellá, Gabriel G; Gut, Ivo I; Serra, Eduard E; Brunet, Joan J; Beltran, Sergi S; Lázaro, Conxi C
Publication Date: 2017-01-04
Variant appearance in text: JAK2: 3323A>G; Asn1108Ser
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
VarDict: a novel and versatile variant caller for next-generation sequencing in cancer research.
Nucleic Acids Research
Lai, Zhongwu Z; Markovets, Aleksandra A; Ahdesmaki, Miika M; Chapman, Brad B; Hofmann, Oliver O; McEwen, Robert R; Johnson, Justin J; Dougherty, Brian B; Barrett, J Carl JC; Dry, Jonathan R JR
Publication Date: 2016-06-20
Variant appearance in text: JAK2: 3323A>G; N1108S; rs142269166
Comparison of the cytotoxicity of cladribine and clofarabine when combined with fludarabine and busulfan in AML cells: Enhancement of cytotoxicity with epigenetic modulators.
Experimental Hematology
Valdez, Benigno C BC; Li, Yang Y; Murray, David D; Ji, Jie J; Liu, Yan Y; Popat, Uday U; Champlin, Richard E RE; Andersson, Borje S BS
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.
Plos One
Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE
Publication Date: 2014
Variant appearance in text: JAK2: N1108S; rs142269166
Genomic analysis of diffuse intrinsic pontine gliomas identifies three molecular subgroups and recurrent activating ACVR1 mutations.
Nature Genetics
Buczkowicz, Pawel P; Hoeman, Christine C; Rakopoulos, Patricia P; Pajovic, Sanja S; Letourneau, Louis L; Dzamba, Misko M; Morrison, Andrew A; Lewis, Peter P; Bouffet, Eric E; Bartels, Ute U; Zuccaro, Jennifer J; Agnihotri, Sameer S; Ryall, Scott S; Barszczyk, Mark M; Chornenkyy, Yevgen Y; Bourgey, Mathieu M; Bourque, Guillaume G; Montpetit, Alexandre A; Cordero, Francisco F; Castelo-Branco, Pedro P; Mangerel, Joshua J; Tabori, Uri U; Ho, King Ching KC; Huang, Annie A; Taylor, Kathryn R KR; Mackay, Alan A; Bendel, Anne E AE; Nazarian, Javad J; Fangusaro, Jason R JR; Karajannis, Matthias A MA; Zagzag, David D; Foreman, Nicholas K NK; Donson, Andrew A; Hegert, Julia V JV; Smith, Amy A; Chan, Jennifer J; Lafay-Cousin, Lucy L; Dunn, Sandra S; Hukin, Juliette J; Dunham, Chris C; Scheinemann, Katrin K; Michaud, Jean J; Zelcer, Shayna S; Ramsay, David D; Cain, Jason J; Brennan, Cameron C; Souweidane, Mark M MM; Jones, Chris C; Allis, C David CD; Brudno, Michael M; Becher, Oren O; Hawkins, Cynthia C
Evaluation of ultra-deep targeted sequencing for personalized breast cancer care.
Breast Cancer Research : Bcr
Harismendy, Olivier O; Schwab, Richard B RB; Alakus, Hakan H; Yost, Shawn E SE; Matsui, Hiroko H; Hasteh, Farnaz F; Wallace, Anne M AM; Park, Hannah L HL; Madlensky, Lisa L; Parker, Barbara B; Carpenter, Philip M PM; Jepsen, Kristen K; Anton-Culver, Hoda H; Frazer, Kelly A KA
Publication Date: 2013-12-10
Variant appearance in text: JAK2: N1108S; rs142269166