Amplification of CDK4 and MDM2: a detailed study of a high-risk neuroblastoma subgroup.
Scientific Reports
Martinez-Monleon, Angela A; Kryh Öberg, Hanna H; Gaarder, Jennie J; Berbegall, Ana P AP; Javanmardi, Niloufar N; Djos, Anna A; Ussowicz, Marek M; Taschner-Mandl, Sabine S; Ambros, Inge M IM; Øra, Ingrid I; Sandstedt, Bengt B; Beiske, Klaus K; Ladenstein, Ruth R; Noguera, Rosa R; Ambros, Peter F PF; Gordon Murkes, Lena L; Ljungman, Gustaf G; Kogner, Per P; Fransson, Susanne S; Martinsson, Tommy T
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: 3251A>C; Gln1084Pro; rs75056899
Full spectrum of clonal haematopoiesis-driver mutations in chronic heart failure and their associations with mortality.
Esc Heart Failure
Kiefer, Katharina C KC; Cremer, Sebastian S; Pardali, Evangelia E; Assmus, Birgit B; Abou-El-Ardat, Khalil K; Kirschbaum, Klara K; Dorsheimer, Lena L; Rasper, Tina T; Berkowitsch, Alexander A; Serve, Hubert H; Dimmeler, Stefanie S; Zeiher, Andreas M AM; Rieger, Michael A MA
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
Comprehensive diagnostics of acute myeloid leukemia by whole transcriptome RNA sequencing.
Leukemia
Arindrarto, Wibowo W; Borràs, Daniel M DM; de Groen, Ruben A L RAL; van den Berg, Redmar R RR; Locher, Irene J IJ; van Diessen, Saskia A M E SAME; van der Holst, Rosalie R; van der Meijden, Edith D ED; Honders, M Willy MW; de Leeuw, Rick H RH; Verlaat, Wina W; Jedema, Inge I; Kroes, Wilma G M WGM; Knijnenburg, Jeroen J; van Wezel, Tom T; Vermaat, Joost S P JSP; Valk, Peter J M PJM; Janssen, Bart B; de Knijff, Peter P; van Bergen, Cornelis A M CAM; van den Akker, Erik B EB; Hoen, Peter A C 't PAC'; Kiełbasa, Szymon M SM; Laros, Jeroen F J JFJ; Griffioen, Marieke M; Veelken, Hendrik H
Publication Date: 2021-01
Variant appearance in text: TET2: 3251A>C; Gln1084Pro; rs75056899
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: TET2: Q1084P; rs75056899
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: 3251A>C; Gln1084Pro; rs75056899
Mutational analysis of disease relapse in patients allografted for acute myeloid leukemia.
Blood Advances
Quek, Lynn L; Ferguson, Paul P; Metzner, Marlen M; Ahmed, Ikhlaaq I; Kennedy, Alison A; Garnett, Catherine C; Jeffries, Sally S; Walter, Claudia C; Piechocki, Kim K; Timbs, Adele A; Danby, Robert R; Raghavan, Manoj M; Peniket, Andrew A; Griffiths, Mike M; Bacon, Andrew A; Ward, Janice J; Wheatley, Keith K; Vyas, Paresh P; Craddock, Charles C
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: 3251A>C; Gln1084Pro
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: 3251A>C; Gln1084Pro
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
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: Q1084P; rs75056899
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
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
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