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
ASXL1 mutations predict inferior molecular response to nilotinib treatment in chronic myeloid leukemia.
Leukemia
Schönfeld, Lioba L; Rinke, Jenny J; Hinze, Anna A; Nagel, Saskia N SN; Schäfer, Vivien V; Schenk, Thomas T; Fabisch, Christian C; Brümmendorf, Tim H TH; Burchert, Andreas A; le Coutre, Philipp P; Krause, Stefan W SW; Saussele, Susanne S; Safizadeh, Fatemeh F; Pfirrmann, Markus M; Hochhaus, Andreas A; Ernst, Thomas T
Publication Date: 2022-09
Variant appearance in text: TET2: Y867H; rs144386291
Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.
Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05
Variant appearance in text: TET2: 2599T>C; Tyr867His; rs144386291
Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.
Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02
Variant appearance in text: TET2: 2599T>C; Y867H; rs144386291
Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.
Leukemia
Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G
Publication Date: 2021-10
Variant appearance in text: TET2: Y867H; rs144386291
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: TET2: 2599T>C; Tyr867His; rs144386291
NGS for (Hemato-) Oncology in Belgium: Evaluation of Laboratory Performance and Feasibility of a National External Quality Assessment Program.
Cancers
Delcourt, Thomas T; Vanneste, Kevin K; Soumali, Mohamed Rida MR; Coucke, Wim W; Ghislain, Vanessa V; Hebrant, Aline A; Van Valckenborgh, Els E; De Keersmaecker, Sigrid C J SCJ; Roosens, Nancy H NH; Van De Walle, Philippe P; Van Den Bulcke, Marc M; Antoniou, Aline A
Sprissler, Ryan R; Perkins, Bryce B; Johnstone, Laurel L; Babiker, Hani M HM; Chalasani, Pavani P; Lau, Branden B; Hammer, Michael M; Mahadevan, Daruka D
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: TET2: 2599T>C; Tyr867His
The Landscape of KMT2A-PTD AML: Concurrent Mutations, Gene Expression Signatures, and Clinical Outcome.
Hemasphere
Hinai, Adil S A Al ASAA; Pratcorona, Marta M; Grob, Tim T; Kavelaars, François G FG; Bussaglia, Elena E; Sanders, Mathijs A MA; Nomdedeu, Josep J; Valk, Peter J M PJM
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer.
Frontiers In Genetics
Glentis, Stavros S; Dimopoulos, Alexandros C AC; Rouskas, Konstantinos K; Ntritsos, George G; Evangelou, Evangelos E; Narod, Steven A SA; Mes-Masson, Anne-Marie AM; Foulkes, William D WD; Rivera, Barbara B; Tonin, Patricia N PN; Ragoussis, Jiannis J; Dimas, Antigone S AS
Publication Date: 2019
Variant appearance in text: TET2: Y867H; rs144386291
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
Association between Clonal Hematopoiesis and Late Nonrelapse Mortality after Autologous Hematopoietic Cell Transplantation.
Biology Of Blood And Marrow Transplantation : Journal Of The American Society For Blood And Marrow Transplantation
Slavin, Thomas P TP; Teh, Jennifer Berano JB; Weitzel, Jeffrey N JN; Peng, Kelly K; Wong, F Lennie FL; Qin, Hanjun H; Wang, Jinhui J; Wu, Xiewei X; Mei, Matthew M; Pillai, Raju R; Wang, Yafan Y; Tsang, Kevin Karwing KK; Pozhitkov, Alex A; Krishnan, Amrita A; Forman, Stephen J SJ; Armenian, Saro H SH
A reference collection of patient-derived cell line and xenograft models of proneural, classical and mesenchymal glioblastoma.
Scientific Reports
Stringer, Brett W BW; Day, Bryan W BW; D'Souza, Rochelle C J RCJ; Jamieson, Paul R PR; Ensbey, Kathleen S KS; Bruce, Zara C ZC; Lim, Yi Chieh YC; Goasdoué, Kate K; Offenhäuser, Carolin C; Akgül, Seçkin S; Allan, Suzanne S; Robertson, Thomas T; Lucas, Peter P; Tollesson, Gert G; Campbell, Scott S; Winter, Craig C; Do, Hongdo H; Dobrovic, Alexander A; Inglis, Po-Ling PL; Jeffree, Rosalind L RL; Johns, Terrance G TG; Boyd, Andrew W AW
Functional genomic landscape of acute myeloid leukaemia.
Nature
Tyner, Jeffrey W JW; Tognon, Cristina E CE; Bottomly, Daniel D; Wilmot, Beth B; Kurtz, Stephen E SE; Savage, Samantha L SL; Long, Nicola N; Schultz, Anna Reister AR; Traer, Elie E; Abel, Melissa M; Agarwal, Anupriya A; Blucher, Aurora A; Borate, Uma U; Bryant, Jade J; Burke, Russell R; Carlos, Amy A; Carpenter, Richie R; Carroll, Joseph J; Chang, Bill H BH; Coblentz, Cody C; d'Almeida, Amanda A; Cook, Rachel R; Danilov, Alexey A; Dao, Kim-Hien T KT; Degnin, Michie M; Devine, Deirdre D; Dibb, James J; Edwards, David K DK; Eide, Christopher A CA; English, Isabel I; Glover, Jason J; Henson, Rachel R; Ho, Hibery H; Jemal, Abdusebur A; Johnson, Kara K; Johnson, Ryan R; Junio, Brian B; Kaempf, Andy A; Leonard, Jessica J; Lin, Chenwei C; Liu, Selina Qiuying SQ; Lo, Pierrette P; Loriaux, Marc M MM; Luty, Samuel S; Macey, Tara T; MacManiman, Jason J; Martinez, Jacqueline J; Mori, Motomi M; Nelson, Dylan D; Nichols, Ceilidh C; Peters, Jill J; Ramsdill, Justin J; Rofelty, Angela A; Schuff, Robert R; Searles, Robert R; Segerdell, Erik E; Smith, Rebecca L RL; Spurgeon, Stephen E SE; Sweeney, Tyler T; Thapa, Aashis A; Visser, Corinne C; Wagner, Jake J; Watanabe-Smith, Kevin K; Werth, Kristen K; Wolf, Joelle J; White, Libbey L; Yates, Amy A; Zhang, Haijiao H; Cogle, Christopher R CR; Collins, Robert H RH; Connolly, Denise C DC; Deininger, Michael W MW; Drusbosky, Leylah L; Hourigan, Christopher S CS; Jordan, Craig T CT; Kropf, Patricia P; Lin, Tara L TL; Martinez, Micaela E ME; Medeiros, Bruno C BC; Pallapati, Rachel R RR; Pollyea, Daniel A DA; Swords, Ronan T RT; Watts, Justin M JM; Weir, Scott J SJ; Wiest, David L DL; Winters, Ryan M RM; McWeeney, Shannon K SK; Druker, Brian J BJ
The modular network structure of the mutational landscape of Acute Myeloid Leukemia.
Plos One
Ibáñez, Mariam M; Carbonell-Caballero, José J; Such, Esperanza E; García-Alonso, Luz L; Liquori, Alessandro A; López-Pavía, María M; Llop, Marta M; Alonso, Carmen C; Barragán, Eva E; Gómez-Seguí, Inés I; Neef, Alexander A; Hervás, David D; Montesinos, Pau P; Sanz, Guillermo G; Sanz, Miguel Angel MA; Dopazo, Joaquín J; Cervera, José J
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: TET2: 2599T>C; Tyr867His; rs144386291
The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.
Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30
Variant appearance in text: TET2: 2599T>C; Tyr867His; rs144386291
Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.
Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15
Variant appearance in text: TET2: Y867H; rs144386291
Prognostic impact of gene mutations in myelodysplastic syndromes with ring sideroblasts.
Blood Cancer Journal
Martín, Iván I; Such, Esperanza E; Navarro, Blanca B; Villamón, Eva E; Vicente, Ana A; Mora, Elvira E; Pedrola, Laia L; Ibáñez, Mariam M; López-Pavía, María M; Tormo, Mar M; Serrano, Alicia A; Sanz, Miguel Ángel MÁ; Cervera, José J; Sanz, Guillermo G
Publication Date: 2017-11-20
Variant appearance in text: TET2: 2599T>C; Tyr867His
Integrating genomic alterations in diffuse large B-cell lymphoma identifies new relevant pathways and potential therapeutic targets.
Leukemia
Karube, K K; Enjuanes, A A; Dlouhy, I I; Jares, P P; Martin-Garcia, D D; Nadeu, F F; Ordóñez, G R GR; Rovira, J J; Clot, G G; Royo, C C; Navarro, A A; Gonzalez-Farre, B B; Vaghefi, A A; Castellano, G G; Rubio-Perez, C C; Tamborero, D D; Briones, J J; Salar, A A; Sancho, J M JM; Mercadal, S S; Gonzalez-Barca, E E; Escoda, L L; Miyoshi, H H; Ohshima, K K; Miyawaki, K K; Kato, K K; Akashi, K K; Mozos, A A; Colomo, L L; Alcoceba, M M; Valera, A A; Carrió, A A; Costa, D D; Lopez-Bigas, N N; Schmitz, R R; Staudt, L M LM; Salaverria, I I; López-Guillermo, A A; Campo, E E
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: TET2: Y867H; rs144386291
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: TET2: 2599T>C; Tyr867His
Bone marrow fibrosis in myelodysplastic syndromes: a prospective evaluation including mutational analysis.
Oncotarget
Ramos, Fernando F; Robledo, Cristina C; Izquierdo-García, Francisco Miguel FM; Suárez-Vilela, Dimas D; Benito, Rocío R; Fuertes, Marta M; Insunza, Andrés A; Barragán, Eva E; Del Rey, Mónica M; García-Ruiz de Morales, José María JM; Tormo, Mar M; Salido, Eduardo E; Zamora, Lurdes L; Pedro, Carmen C; Sánchez-Del-Real, Javier J; Díez-Campelo, María M; Del Cañizo, Consuelo C; Sanz, Guillermo F GF; Hernández-Rivas, Jesús María JM; ,
Ethnic variation of TET2 SNP rs2454206 and association with clinical outcome in childhood AML: a report from the Children's Oncology Group.
Leukemia
Kutny, M A MA; Alonzo, T A TA; Gamazon, E R ER; Gerbing, R B RB; Geraghty, D D; Lange, B B; Heerema, N A NA; Sung, L L; Aplenc, R R; Franklin, J J; Raimondi, S C SC; Hirsch, B A BA; Konkashbaev, A A; Cox, N J NJ; Onel, K K; Gamis, A S AS; Meshinchi, S S
Publication Date: 2015-12
Variant appearance in text: TET2: Y867H; rs144386291
Targeted resequencing analysis of 31 genes commonly mutated in myeloid disorders in serial samples from myelodysplastic syndrome patients showing disease progression.
Leukemia
Pellagatti, A A; Roy, S S; Di Genua, C C; Burns, A A; McGraw, K K; Valletta, S S; Larrayoz, M J MJ; Fernandez-Mercado, M M; Mason, J J; Killick, S S; Mecucci, C C; Calasanz, M J MJ; List, A A; Schuh, A A; Boultwood, J J
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
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: TET2: Y867H; rs144386291
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: TET2: Y867H; rs144386291
TET2 overexpression in chronic lymphocytic leukemia is unrelated to the presence of TET2 variations.
Biomed Research International
Hernández-Sánchez, María M; Rodríguez, Ana Eugenia AE; Kohlmann, Alexander A; Benito, Rocío R; García, Juan Luis JL; Risueño, Alberto A; Fermiñán, Encarna E; De Las Rivas, Javier J; González, Marcos M; Hernández-Rivas, Jesús-María JM
Publication Date: 2014
Variant appearance in text: TET2: Tyr867His; rs144386291
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Mutation patterns of 16 genes in primary and secondary acute myeloid leukemia (AML) with normal cytogenetics.
Plos One
Fernandez-Mercado, Marta M; Yip, Bon Ham BH; Pellagatti, Andrea A; Davies, Carwyn C; Larrayoz, María José MJ; Kondo, Toshinori T; Pérez, Cristina C; Killick, Sally S; McDonald, Emma-Jane EJ; Odero, María Dolores MD; Agirre, Xabier X; Prósper, Felipe F; Calasanz, María José MJ; Wainscoat, James S JS; Boultwood, Jacqueline J
Genetic characterization of TET1, TET2, and TET3 alterations in myeloid malignancies.
Blood
Abdel-Wahab, Omar O; Mullally, Ann A; Hedvat, Cyrus C; Garcia-Manero, Guillermo G; Patel, Jay J; Wadleigh, Martha M; Malinge, Sebastien S; Yao, JinJuan J; Kilpivaara, Outi O; Bhat, Rukhmi R; Huberman, Kety K; Thomas, Sabrena S; Dolgalev, Igor I; Heguy, Adriana A; Paietta, Elisabeth E; Le Beau, Michelle M MM; Beran, Miloslav M; Tallman, Martin S MS; Ebert, Benjamin L BL; Kantarjian, Hagop M HM; Stone, Richard M RM; Gilliland, D Gary DG; Crispino, John D JD; Levine, Ross L RL
Loss of heterozygosity 4q24 and TET2 mutations associated with myelodysplastic/myeloproliferative neoplasms.
Blood
Jankowska, Anna M AM; Szpurka, Hadrian H; Tiu, Ramon V RV; Makishima, Hideki H; Afable, Manuel M; Huh, Jungwon J; O'Keefe, Christine L CL; Ganetzky, Rebecca R; McDevitt, Michael A MA; Maciejewski, Jaroslaw P JP