Circulating Tumor DNA Monitoring Reveals Molecular Progression before Radiologic Progression in a Real-life Cohort of Patients with Advanced Non-small Cell Lung Cancer.
Cancer Research Communications
Frank, Malene S MS; Andersen, Christina S A CSA; Ahlborn, Lise B LB; Pallisgaard, Niels N; Bodtger, Uffe U; Gehl, Julie J
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
High p16 expression and heterozygous RB1 loss are biomarkers for CDK4/6 inhibitor resistance in ER+ breast cancer.
Nature Communications
Palafox, Marta M; Monserrat, Laia L; Bellet, Meritxell M; Villacampa, Guillermo G; Gonzalez-Perez, Abel A; Oliveira, Mafalda M; Brasó-Maristany, Fara F; Ibrahimi, Nusaibah N; Kannan, Srinivasaraghavan S; Mina, Leonardo L; Herrera-Abreu, Maria Teresa MT; Òdena, Andreu A; Sánchez-Guixé, Mònica M; Capelán, Marta M; Azaro, Analía A; Bruna, Alejandra A; Rodríguez, Olga O; Guzmán, Marta M; Grueso, Judit J; Viaplana, Cristina C; Hernández, Javier J; Su, Faye F; Lin, Kui K; Clarke, Robert B RB; Caldas, Carlos C; Arribas, Joaquín J; Michiels, Stefan S; García-Sanz, Alicia A; Turner, Nicholas C NC; Prat, Aleix A; Nuciforo, Paolo P; Dienstmann, Rodrigo R; Verma, Chandra S CS; Lopez-Bigas, Nuria N; Scaltriti, Maurizio M; Arnedos, Monica M; Saura, Cristina C; Serra, Violeta V
Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.
Inflammatory Bowel Diseases
de Krijger, Manon M; Carvalho, Beatriz B; Rausch, Christian C; Bolijn, Anne S AS; Delis-van Diemen, Pien M PM; Tijssen, Marianne M; van Engeland, Manon M; Mostafavi, Nahid N; Bogie, Roel M M RMM; Dekker, Evelien E; Masclee, Ad A M AAM; Verheij, Joanne J; Meijer, Gerrit A GA; Ponsioen, Cyriel Y CY
Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.
Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.
Helpful Criteria When Implementing NGS Panels in Childhood Lymphoblastic Leukemia.
Journal Of Personalized Medicine
Vega-Garcia, Nerea N; Benito, Rocío R; Esperanza-Cebollada, Elena E; Llop, Marta M; Robledo, Cristina C; Vicente-Garcés, Clara C; Alonso, Javier J; Barragán, Eva E; Fernández, Guerau G; Hernández-Sánchez, Jesús M JM; Martín-Izquierdo, Marta M; Maynou, Joan J; Minguela, Alfredo A; Montaño, Adrián A; Ortega, Margarita M; Torrebadell, Montserrat M; Cervera, José J; Sánchez, Joaquín J; Jiménez-Velasco, Antonio A; Riesco, Susana S; Hernández-Rivas, Jesús M JM; Lassaletta, Álvaro Á; Fernández, José María JM; Rives, Susana S; Dapena, José Luis JL; Ramírez, Manuel M; Camós, Mireia M; On Behalf Of The Group Of Leukemia Of The Spanish Society Of Pediatric Hematology And Oncology Sehop,
Publication Date: 2020-11-26
Variant appearance in text: JAK2: 3188G>A; Arg1063His; rs41316003
The Polygenic and Monogenic Basis of Blood Traits and Diseases.
Cell
Vuckovic, Dragana D; Bao, Erik L EL; Akbari, Parsa P; Lareau, Caleb A CA; Mousas, Abdou A; Jiang, Tao T; Chen, Ming-Huei MH; Raffield, Laura M LM; Tardaguila, Manuel M; Huffman, Jennifer E JE; Ritchie, Scott C SC; Megy, Karyn K; Ponstingl, Hannes H; Penkett, Christopher J CJ; Albers, Patrick K PK; Wigdor, Emilie M EM; Sakaue, Saori S; Moscati, Arden A; Manansala, Regina R; Lo, Ken Sin KS; Qian, Huijun H; Akiyama, Masato M; Bartz, Traci M TM; Ben-Shlomo, Yoav Y; Beswick, Andrew A; Bork-Jensen, Jette J; Bottinger, Erwin P EP; Brody, Jennifer A JA; van Rooij, Frank J A FJA; Chitrala, Kumaraswamy N KN; Wilson, Peter W F PWF; Choquet, Hélène H; Danesh, John J; Di Angelantonio, Emanuele E; Dimou, Niki N; Ding, Jingzhong J; Elliott, Paul P; Esko, Tõnu T; Evans, Michele K MK; Felix, Stephan B SB; Floyd, James S JS; Broer, Linda L; Grarup, Niels N; Guo, Michael H MH; Guo, Qi Q; Greinacher, Andreas A; Haessler, Jeff J; Hansen, Torben T; Howson, Joanna M M JMM; Huang, Wei W; Jorgenson, Eric E; Kacprowski, Tim T; Kähönen, Mika M; Kamatani, Yoichiro Y; Kanai, Masahiro M; Karthikeyan, Savita S; Koskeridis, Fotios F; Lange, Leslie A LA; Lehtimäki, Terho T; Linneberg, Allan A; Liu, Yongmei Y; Lyytikäinen, Leo-Pekka LP; Manichaikul, Ani A; Matsuda, Koichi K; Mohlke, Karen L KL; Mononen, Nina N; Murakami, Yoshinori Y; Nadkarni, Girish N GN; Nikus, Kjell K; Pankratz, Nathan N; Pedersen, Oluf O; Preuss, Michael M; Psaty, Bruce M BM; Raitakari, Olli T OT; Rich, Stephen S SS; Rodriguez, Benjamin A T BAT; Rosen, Jonathan D JD; Rotter, Jerome I JI; Schubert, Petra P; Spracklen, Cassandra N CN; Surendran, Praveen P; Tang, Hua H; Tardif, Jean-Claude JC; Ghanbari, Mohsen M; Völker, Uwe U; Völzke, Henry H; Watkins, Nicholas A NA; Weiss, Stefan S; , ; Cai, Na N; Kundu, Kousik K; Watt, Stephen B SB; Walter, Klaudia K; Zonderman, Alan B AB; Cho, Kelly K; Li, Yun Y; Loos, Ruth J F RJF; Knight, Julian C JC; Georges, Michel M; Stegle, Oliver O; Evangelou, Evangelos E; Okada, Yukinori Y; Roberts, David J DJ; Inouye, Michael M; Johnson, Andrew D AD; Auer, Paul L PL; Astle, William J WJ; Reiner, Alexander P AP; Butterworth, Adam S AS; Ouwehand, Willem H WH; Lettre, Guillaume G; Sankaran, Vijay G VG; Soranzo, Nicole N
Publication Date: 2020-09-03
Variant appearance in text: JAK2: Arg1063His; rs41316003
Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.
Jco Precision Oncology
MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM
Publication Date: 2019
Variant appearance in text: JAK2: 3188G>A; Arg1063His
Myeloproliferative Diseases as Possible Risk Factor for Development of Chronic Thromboembolic Pulmonary Hypertension-A Genetic Study.
International Journal Of Molecular Sciences
Eichstaedt, Christina A CA; Verweyen, Jeremias J; Halank, Michael M; Benjamin, Nicola N; Fischer, Christine C; Mayer, Eckhard E; Guth, Stefan S; Wiedenroth, Christoph B CB; Egenlauf, Benjamin B; Harutyunova, Satenik S; Xanthouli, Panagiota P; Marra, Alberto M AM; Wilkens, Heinrike H; Ewert, Ralf R; Hinderhofer, Katrin K; Grünig, Ekkehard E
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: 3188G>A; Arg1063His
Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.
Stroke
Ilinca, Andreea A; Martinez-Majander, Nicolas N; Samuelsson, Sofie S; Piccinelli, Paul P; Truvé, Katarina K; Cole, John J; Kittner, Steven S; Soller, Maria M; Kristoffersson, Ulf U; Tatlisumak, Turgut T; Puschmann, Andreas A; Putaala, Jukka J; Lindgren, Arne A
Publication Date: 2020-04
Variant appearance in text: JAK2: 3188G>A; Arg1063His
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: 3188G>A; R1063H; rs41316003
False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.
Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Intraventricular meningiomas frequently harbor NF2 mutations but lack common genetic alterations in TRAF7, AKT1, SMO, KLF4, PIK3CA, and TERT.
Acta Neuropathologica Communications
Jungwirth, Gerhard G; Warta, Rolf R; Beynon, Christopher C; Sahm, Felix F; von Deimling, Andreas A; Unterberg, Andreas A; Herold-Mende, Christel C; Jungk, Christine C
Publication Date: 2019-08-30
Variant appearance in text: JAK2: R1063H; rs41316003
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Genome Medicine
Surrey, Lea F LF; MacFarland, Suzanne P SP; Chang, Fengqi F; Cao, Kajia K; Rathi, Komal S KS; Akgumus, Gozde T GT; Gallo, Daniel D; Lin, Fumin F; Gleason, Adam A; Raman, Pichai P; Aplenc, Richard R; Bagatell, Rochelle R; Minturn, Jane J; Mosse, Yael Y; Santi, Mariarita M; Tasian, Sarah K SK; Waanders, Angela J AJ; Sarmady, Mahdi M; Maris, John M JM; Hunger, Stephen P SP; Li, Marilyn M MM
Publication Date: 2019-05-28
Variant appearance in text: JAK2: 3188G>A; Arg1063His
Genetic and Transcriptomic Variation Linked to Neutrophil Granulocyte-Macrophage Colony-Stimulating Factor Signaling in Pediatric Crohn's Disease.
Inflammatory Bowel Diseases
Denson, Lee A LA; Jurickova, Ingrid I; Karns, Rebekah R; Shaw, Kelly A KA; Cutler, David J DJ; Okou, David D; Valencia, C Alexander CA; Dodd, Anne A; Mondal, Kajari K; Aronow, Bruce J BJ; Haberman, Yael Y; Linn, Aaron A; Price, Adam A; Bezold, Ramona R; Lake, Kathleen K; Jackson, Kimberly K; Walters, Thomas D TD; Griffiths, Anne A; Baldassano, Robert N RN; Noe, Joshua D JD; Hyams, Jeffrey S JS; Crandall, Wallace V WV; Kirschner, Barbara S BS; Heyman, Melvin B MB; Snapper, Scott S; Guthery, Stephen L SL; Dubinsky, Marla C MC; Leleiko, Neal S NS; Otley, Anthony R AR; Xavier, Ramnik J RJ; Stevens, Christine C; Daly, Mark J MJ; Zwick, Michael E ME; Kugathasan, Subra S
Publication Date: 2019-02-21
Variant appearance in text: JAK2: 3188G>A; Arg1063His
Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.
Frontiers In Oncology
Ayres-Silva, Jackline P JP; Bonamino, Martin H MH; Gouveia, Maria E ME; Monte-Mor, Barbara C R BCR; Coutinho, Diego F DF; Daumas, Adelmo H AH; Solza, Cristiana C; Braggio, Esteban E; Zalcberg, Ilana Renault IR
Whole-exome sequencing in evaluation of patients with venous thromboembolism.
Blood Advances
Lee, Eun-Ju EJ; Dykas, Daniel J DJ; Leavitt, Andrew D AD; Camire, Rodney M RM; Ebberink, Eduard E; García de Frutos, Pablo P; Gnanasambandan, Kavitha K; Gu, Sean X SX; Huntington, James A JA; Lentz, Steven R SR; Mertens, Koen K; Parish, Christopher R CR; Rezaie, Alireza R AR; Sayeski, Peter P PP; Cromwell, Caroline C; Bar, Noffar N; Halene, Stephanie S; Neparidze, Natalia N; Parker, Terri L TL; Burns, Adrienne J AJ; Dumont, Anne A; Yao, Xiaopan X; Chaar, Cassius Iyad Ochoa CIO; Connors, Jean M JM; Bale, Allen E AE; Lee, Alfred Ian AI
Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.
Blood
Lanikova, Lucie L; Babosova, Olga O; Swierczek, Sabina S; Wang, Linghua L; Wheeler, David A DA; Divoky, Vladimir V; Korinek, Vladimir V; Prchal, Josef T JT
Pooled Resequencing of 122 Ulcerative Colitis Genes in a Large Dutch Cohort Suggests Population-Specific Associations of Rare Variants in MUC2.
Plos One
Visschedijk, Marijn C MC; Alberts, Rudi R; Mucha, Soren S; Deelen, Patrick P; de Jong, Dirk J DJ; Pierik, Marieke M; Spekhorst, Lieke M LM; Imhann, Floris F; van der Meulen-de Jong, Andrea E AE; van der Woude, C Janneke CJ; van Bodegraven, Adriaan A AA; Oldenburg, Bas B; Löwenberg, Mark M; Dijkstra, Gerard G; Ellinghaus, David D; Schreiber, Stefan S; Wijmenga, Cisca C; , ; , ; Rivas, Manuel A MA; Franke, Andre A; van Diemen, Cleo C CC; Weersma, Rinse K RK
Publication Date: 2016
Variant appearance in text: JAK2: 3188G>A; Arg1063His; rs41316003
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Plos One
Reinhold, William C WC; Varma, Sudhir S; Sousa, Fabricio F; Sunshine, Margot M; Abaan, Ogan D OD; Davis, Sean R SR; Reinhold, Spencer W SW; Kohn, Kurt W KW; Morris, Joel J; Meltzer, Paul S PS; Doroshow, James H JH; Pommier, Yves Y
Publication Date: 2014
Variant appearance in text: JAK2: R1063H; rs41316003
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: R1063H; rs41316003
SMAD3 gene variant is a risk factor for recurrent surgery in patients with Crohn's disease.
Journal Of Crohn'S & Colitis
Fowler, Sharyle A SA; Ananthakrishnan, Ashwin N AN; Gardet, Agnes A; Stevens, Christine R CR; Korzenik, Joshua R JR; Sands, Bruce E BE; Daly, Mark J MJ; Xavier, Ramnik J RJ; Yajnik, Vijay V
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