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
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: 5167C>T; P1723S; rs146348065
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: 5167C>T; P1723S; rs146348065
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: P1723S; rs146348065
Genomic and evolutionary portraits of disease relapse in acute myeloid leukemia.
Leukemia
Rapaport, Franck F; Neelamraju, Yaseswini Y; Baslan, Timour T; Hassane, Duane D; Gruszczynska, Agata A; Robert de Massy, Marc M; Farnoud, Noushin N; Haddox, Samuel S; Lee, Tak T; Medina-Martinez, Juan J; Sheridan, Caroline C; Thurmond, Alexis A; Becker, Michael M; Bekiranov, Stefan S; Carroll, Martin M; Moses Murdock, Heardly H; Valk, Peter J M PJM; Bullinger, Lars L; D'Andrea, Richard R; Lowe, Scott W SW; Neuberg, Donna D; Levine, Ross L RL; Melnick, Ari A; Garrett-Bakelman, Francine E FE
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: 5167C>T; Pro1723Ser; rs146348065
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
A community-based lung cancer rapid tissue donation protocol provides high-quality drug-resistant specimens for proteogenomic analyses.
Cancer Medicine
Boyle, Theresa A TA; Quinn, Gwendolyn P GP; Schabath, Matthew B MB; Muñoz-Antonia, Teresita T; Saller, James J JJ; Duarte, Luisa F LF; Hair, Laura S LS; Teer, Jamie K JK; Chiang, Derek Y DY; Leary, Rebecca R; Wong, Connie C CC; Savchenko, Alexander A; Singh, Angad P AP; Charette, LaSalette L; Mendell, Kate K; Gorgun, Gullu G; Antonia, Scott J SJ; Chiappori, Alberto A AA; Creelan, Benjamin C BC; Gray, Jhanelle E JE; Haura, Eric B EB
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: P1723S; rs146348065
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
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
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: 5167C>T; Pro1723Ser; rs146348065
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: 5167C>T; Pro1723Ser; rs146348065
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: P1723S; rs146348065
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: P1723S; rs146348065
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: 5167C>T; Pro1723Ser
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; ,
A mutation in the tuft mouse disrupts TET1 activity and alters the expression of genes that are crucial for neural tube closure.
Disease Models & Mechanisms
Fong, Keith S K KS; Hufnagel, Robert B RB; Khadka, Vedbar S VS; Corley, Michael J MJ; Maunakea, Alika K AK; Fogelgren, Ben B; Ahmed, Zubair M ZM; Lozanoff, Scott S
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: P1723S; rs146348065
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
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: P1723S; rs146348065
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: Pro1723Ser; rs146348065
The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.
Haematologica
Olcaydu, Damla D; Rumi, Elisa E; Harutyunyan, Ashot A; Passamonti, Francesco F; Pietra, Daniela D; Pascutto, Cristiana C; Berg, Tiina T; Jäger, Roland R; Hammond, Emma E; Cazzola, Mario M; Kralovics, Robert R
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