EZH2 c.1936T>C ;(p.Y646H)

Variant ID: 7-148508728-A-G

NM_004456.4(EZH2):c.1936T>C;(p.Y646H)

This variant was identified in 65 publications

View GRCh38 version.




Publications:


The Role of Biomarkers in Guiding Clinical Decision-Making in Oncology.

Journal Of The Advanced Practitioner In Oncology
Moore, Donald C DC; Guinigundo, Andrew S AS
Publication Date: 2023-04

Variant appearance in text: EZH2: Y646H
PubMed Link: 37206905
Variant Present in the following documents:
  • Main text
  • jadpro-14-15.pdf
View BVdb publication page



Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences
Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW
Publication Date: 2023-03-08

Variant appearance in text: EZH2: 1936T>C; Tyr646His; rs267601395
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Molecular underpinnings of exceptional response in primary malignant melanoma of the esophagus to anti-PD-1 monotherapy.

Journal For Immunotherapy Of Cancer
Dai, Jie J; Bai, Xue X; Gao, Xuan X; Tang, Lirui L; Chen, Yu Y; Sun, Linzi L; Wei, Xiaoting X; Li, Caili C; Qi, Zhonghui Z; Kong, Yan Y; Cui, Chuanliang C; Chi, Zhihong Z; Sheng, Xinan X; Xu, Zelong Z; Lian, Bin B; Li, Siming S; Yan, Xieqiao X; Tang, Bixia B; Zhou, Li L; Wang, Xuan X; Xia, Xuefeng X; Guo, Jun J; Mao, Lili L; Si, Lu L
Publication Date: 2023-01

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 36593066
Variant Present in the following documents:
  • jitc-2022-005937supp007.xls, sheet 1
View BVdb publication page



Single-cell profiling reveals a memory B cell-like subtype of follicular lymphoma with increased transformation risk.

Nature Communications
Wang, Xuehai X; Nissen, Michael M; Gracias, Deanne D; Kusakabe, Manabu M; Simkin, Guillermo G; Jiang, Aixiang A; Duns, Gerben G; Sarkozy, Clementine C; Hilton, Laura L; Chavez, Elizabeth A EA; Segat, Gabriela C GC; Wong, Rachel R; Kim, Jubin J; Aoki, Tomohiro T; Islam, Rashedul R; May, Christina C; Hung, Stacy S; Tyshchenko, Kate K; Brinkman, Ryan R RR; Hirst, Martin M; Karsan, Aly A; Freeman, Ciara C; Sehn, Laurie H LH; Morin, Ryan D RD; Roth, Andrew J AJ; Savage, Kerry J KJ; Craig, Jeffrey W JW; Shah, Sohrab P SP; Steidl, Christian C; Scott, David W DW; Weng, Andrew P AP
Publication Date: 2022-11-09

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



EZH2 mutations at diagnosis in follicular lymphoma: a promising biomarker to guide frontline treatment.

Bmc Cancer
Martínez-Laperche, C C; Sanz-Villanueva, L L; Díaz Crespo, F J FJ; Muñiz, P P; Martín Rojas, R R; Carbonell, D D; Chicano, M M; Suárez-González, J J; Menárguez, J J; Kwon, M M; Diez Martín, J L JL; Buño, I I; Bastos Oreiro, M M
Publication Date: 2022-09-14

Variant appearance in text: EZH2: Y646H
PubMed Link: 36104682
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_10070.pdf
View BVdb publication page



Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology
Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M
Publication Date: 2022-10

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 35971249
Variant Present in the following documents:
  • MOL2-16-3689-s003.xlsx, sheet 1
View BVdb publication page



Prospective Clinical Genomic Profiling of Ewing Sarcoma: ERF and FGFR1 Mutations as Recurrent Secondary Alterations of Potential Biologic and Therapeutic Relevance.

Jco Precision Oncology
Ogura, Koichi K; Elkrief, Arielle A; Bowman, Anita S AS; Koche, Richard P RP; de Stanchina, Elisa E; Benayed, Ryma R; Mauguen, Audrey A; Mattar, Marissa S MS; Khodos, Inna I; Meyers, Paul A PA; Healey, John H JH; Tap, William D WD; Hameed, Meera M; Zehir, Ahmet A; Shukla, Neerav N; Sawyers, Charles C; Bose, Rohit R; Slotkin, Emily E; Ladanyi, Marc M
Publication Date: 2022-08

Variant appearance in text: EZH2: Y646H
PubMed Link: 35952322
Variant Present in the following documents:
  • Main text
  • po-6-e2200048.pdf
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: EZH2: 1936T>C; Y646H; rs267601395
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Clinical relevance of molecular characteristics in Burkitt lymphoma differs according to age.

Nature Communications
Burkhardt, Birgit B; Michgehl, Ulf U; Rohde, Jonas J; Erdmann, Tabea T; Berning, Philipp P; Reutter, Katrin K; Rohde, Marius M; Borkhardt, Arndt A; Burmeister, Thomas T; Dave, Sandeep S; Tzankov, Alexandar A; Dugas, Martin M; Sandmann, Sarah S; Fend, Falko F; Finger, Jasmin J; Mueller, Stephanie S; Gökbuget, Nicola N; Haferlach, Torsten T; Kern, Wolfgang W; Hartmann, Wolfgang W; Klapper, Wolfram W; Oschlies, Ilske I; Richter, Julia J; Kontny, Udo U; Lutz, Mathias M; Maecker-Kolhoff, Britta B; Ott, German G; Rosenwald, Andreas A; Siebert, Reiner R; von Stackelberg, Arend A; Strahm, Brigitte B; Woessmann, Wilhelm W; Zimmermann, Martin M; Zapukhlyak, Myroslav M; Grau, Michael M; Lenz, Georg G
Publication Date: 2022-07-06

Variant appearance in text: EZH2: 1936T>C
PubMed Link: 35794096
Variant Present in the following documents:
  • 41467_2022_31355_MOESM5_ESM.xlsx, sheet 2
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: EZH2: Y646H
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Jiachen J; Shen, Kefeng K; Mu, Wei W; Li, Weigang W; Zhang, Meilan M; Zhang, Wei W; Li, Zhe Z; Ge, Tong T; Zhu, Zhoujie Z; Zhang, Shangkun S; Chen, Caixia C; Xing, Shugang S; Zhu, Li L; Chen, Liting L; Wang, Na N; Huang, Liang L; Li, Dengju D; Xiao, Min M; Zhou, Jianfeng J
Publication Date: 2022

Variant appearance in text: EZH2: 1936T>C; Tyr646His; rs267601395
PubMed Link: 35572515
Variant Present in the following documents:
  • Table_2.xlsx, sheet 5
View BVdb publication page



CancerVar: An artificial intelligence-empowered platform for clinical interpretation of somatic mutations in cancer.

Science Advances
Li, Quan Q; Ren, Zilin Z; Cao, Kajia K; Li, Marilyn M MM; Wang, Kai K; Zhou, Yunyun Y
Publication Date: 2022-05-06

Variant appearance in text: EZH2: Y646H
PubMed Link: 35544644
Variant Present in the following documents:
  • Main text
  • sciadv.abj1624.pdf
View BVdb publication page



A tumor suppressor role for EZH2 in diffuse midline glioma pathogenesis.

Acta Neuropathologica Communications
Dhar, Swati S; Gadd, Samantha S; Patel, Priyam P; Vaynshteyn, Jake J; Raju, G Praveen GP; Hashizume, Rintaro R; Brat, Daniel J DJ; Becher, Oren J OJ
Publication Date: 2022-04-08

Variant appearance in text: EZH2: Y646H
PubMed Link: 35395831
Variant Present in the following documents:
  • Main text
  • 40478_2022_Article_1336.pdf
View BVdb publication page



Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: EZH2: Y646H
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc2.pdf
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Cell-free DNA sequencing as a potential screening tool for phase I targeted treatment in refractory/relapse diffuse large B-cell lymphoma.

Haematologica
Quivoron, Cyril C; Tarabay, Anthony A; Michot, Jean-Marie JM; Pagès, Arnaud A; Lecourt, Hélène H; Aupérin, Anne A; Danu, Alina A; Lazarovici, Julien J; Rossignol, Julien J; Ghez, David D; Dartigues, Peggy P; Vergé, Véronique V; Massard, Christophe C; Camara-Clayette, Valérie V; Ribrag, Vincent V; Sarkozy, Clémentine C
Publication Date: 2022-08-01

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 35320922
Variant Present in the following documents:
  • 2021_280464_QUIVORON_SUPPL.pdf
View BVdb publication page



Anaplastic thyroid cancer: genome-based search for new targeted therapy options.

Endocrine Connections
Hescheler, Daniel Alexander DA; Hartmann, Milan Janis Michael MJM; Riemann, Burkhard B; Michel, Maximilian M; Bruns, Christiane Josephine CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2022-04-29

Variant appearance in text: EZH2: Y646H
PubMed Link: 35275096
Variant Present in the following documents:
  • supplementary_table_1.xlsx, sheet 1
View BVdb publication page



Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances
Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L
Publication Date: 2022-04-12

Variant appearance in text: EZH2: Y646H
PubMed Link: 34654055
Variant Present in the following documents:
  • advancesADV2021006034-suppl1.pdf
View BVdb publication page



Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research
Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC
Publication Date: 2021-10-09

Variant appearance in text: EZH2: Y646H; rs267601395
PubMed Link: 34635181
Variant Present in the following documents:
  • 40364_2021_330_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: EZH2: Y646H
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



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: rs267601395
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: EZH2: Y646H
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Journal Of Cancer
Oh, Joowon J; Kim, Yu Ri YR; Kim, Yoonjung Y; Kim, Boyeon B; Park, Kyung Sun KS; Nam, Seong-Hyeuk SH; Lee, Kyung-A KA
Publication Date: 2021

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 34093829
Variant Present in the following documents:
  • jcav12p4288s2.xlsx, sheet 3
View BVdb publication page



Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R
Publication Date: 2021-06-01

Variant appearance in text: EZH2: Y646H
PubMed Link: 34050029
Variant Present in the following documents:
  • pnas.2104504118.sd02.xlsx, sheet 1
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: EZH2: Y646H
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Treating lymphoma is now a bit EZ-er.

Blood Advances
Morin, Ryan D RD; Arthur, Sarah E SE; Assouline, Sarit S
Publication Date: 2021-04-27

Variant appearance in text: EZH2: Y646H
PubMed Link: 33904892
Variant Present in the following documents:
  • Main text
View BVdb publication page



Point Mutation Specific Antibodies in B-Cell and T-Cell Lymphomas and Leukemias: Targeting IDH2, KRAS, BRAF and Other Biomarkers RHOA, IRF8, MYD88, ID3, NRAS, SF3B1 and EZH2.

Diagnostics (Basel, Switzerland)
Singh, Kunwar K; Gollapudi, Sumanth S; Mittal, Sasha S; Small, Corinn C; Kumar, Jyoti J; Ohgami, Robert S RS
Publication Date: 2021-03-27

Variant appearance in text: EZH2: Y646H
PubMed Link: 33801781
Variant Present in the following documents:
  • Main text
  • diagnostics-11-00600.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports
Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2021-01-21

Variant appearance in text: EZH2: Y646H
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica
Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C
Publication Date: 2022-01-01

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 33327711
Variant Present in the following documents:
  • 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1
View BVdb publication page



Integration of intra-sample contextual error modeling for improved detection of somatic mutations from deep sequencing.

Science Advances
Abelson, Sagi S; Zeng, Andy G X AGX; Nofech-Mozes, Ido I; Wang, Ting Ting TT; Ng, Stanley W K SWK; Minden, Mark D MD; Pugh, Trevor J TJ; Awadalla, Philip P; Shlush, Liran I LI; Murphy, Tracy T; Chan, Steven M SM; Dick, John E JE; Bratman, Scott V SV
Publication Date: 2020-12

Variant appearance in text: EZH2: Y646H
PubMed Link: 33298453
Variant Present in the following documents:
  • abe3722_Table_S3.xlsx, sheet 5
  • abe3722_Table_S3.xlsx, sheet 3
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs267601395
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: EZH2: Y646H
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: EZH2: Y646H
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: EZH2: Tyr646His
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The genetic evolution of metastatic uveal melanoma.

Nature Genetics
Shain, A Hunter AH; Bagger, Mette M MM; Yu, Richard R; Chang, Darwin D; Liu, Shanshan S; Vemula, Swapna S; Weier, Jingly F JF; Wadt, Karin K; Heegaard, Steffen S; Bastian, Boris C BC; Kiilgaard, Jens F JF
Publication Date: 2019-07

Variant appearance in text: EZH2: Y646H; rs267601395
PubMed Link: 31253977
Variant Present in the following documents:
  • NIHMS1529305-supplement-5.xlsx, sheet 1
View BVdb publication page



Epigenetic Enzyme Mutations: Role in Tumorigenesis and Molecular Inhibitors.

Frontiers In Oncology
Han, Mei M; Jia, Lina L; Lv, Wencai W; Wang, Lihui L; Cui, Wei W
Publication Date: 2019

Variant appearance in text: EZH2: Y646H
PubMed Link: 30984620
Variant Present in the following documents:
  • Main text
  • fonc-09-00194.pdf
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: EZH2: Y646H
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



Unraveling transformation of follicular lymphoma to diffuse large B-cell lymphoma.

Plos One
González-Rincón, Julia J; Méndez, Miriam M; Gómez, Sagrario S; García, Juan F JF; Martín, Paloma P; Bellas, Carmen C; Pedrosa, Lucía L; Rodríguez-Pinilla, Socorro M SM; Camacho, Francisca I FI; Quero, Cristina C; Pérez-Callejo, David D; Rueda, Antonio A; Llanos, Marta M; Gómez-Codina, José J; Piris, Miguel A MA; Montes-Moreno, Santiago S; Bárcena, Carmen C; Rodríguez-Abreu, Delvys D; Menárguez, Javier J; de la Cruz-Merino, Luis L; Monsalvo, Silvia S; Parejo, Consuelo C; Royuela, Ana A; Kwee, Ivo I; Cascione, Luciano L; Arribas, Alberto A; Bertoni, Francesco F; Mollejo, Manuela M; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2019

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 30802265
Variant Present in the following documents:
  • pone.0212813.s010.xlsx, sheet 1
View BVdb publication page



CREBBP gene mutations are frequently detected in in situ follicular neoplasia.

Blood
Schmidt, Janine J; Ramis-Zaldivar, Joan Enric JE; Bonzheim, Irina I; Steinhilber, Julia J; Müller, Inga I; Haake, Andrea A; Yu, Shan Chi SC; Raffeld, Mark M; Fend, Falko F; Salaverria, Itziar I; Siebert, Reiner R; Jaffe, Elaine S ES; Quintanilla-Martinez, Leticia L
Publication Date: 2018-12-20

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 30401710
Variant Present in the following documents:
  • Main text
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: EZH2: Y646H
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
View BVdb publication page



Non-invasive monitoring of diffuse large B-cell lymphoma by cell-free DNA high-throughput targeted sequencing: analysis of a prospective cohort.

Blood Cancer Journal
Bohers, Elodie E; Viailly, Pierre-Julien PJ; Becker, Stéphanie S; Marchand, Vinciane V; Ruminy, Philippe P; Maingonnat, Catherine C; Bertrand, Philippe P; Etancelin, Pascaline P; Picquenot, Jean-Michel JM; Camus, Vincent V; Menard, Anne-Lise AL; Lemasle, Emilie E; Contentin, Nathalie N; Leprêtre, Stéphane S; Lenain, Pascal P; Stamatoullas, Aspasia A; Lanic, Hélène H; Libraire, Julie J; Vaudaux, Sandrine S; Pepin, Louis-Ferdinand LF; Vera, Pierre P; Tilly, Hervé H; Jardin, Fabrice F
Publication Date: 2018-08-01

Variant appearance in text: EZH2: Y646H
PubMed Link: 30069017
Variant Present in the following documents:
  • 41408_2018_111_MOESM2_ESM.pdf
View BVdb publication page



Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Melanoma Research
Saglam, Ozlen O; Naqvi, Syeda M H SMH; Zhang, Yonghong Y; Mesa, Tania T; Teer, Jamie K JK; Yoder, Sean S; Lee, Jae J; Messina, Jane J
Publication Date: 2018-12

Variant appearance in text: EZH2: Y646H
PubMed Link: 30028779
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patterns of genomic evolution in advanced melanoma.

Nature Communications
Birkeland, E E; Zhang, S S; Poduval, D D; Geisler, J J; Nakken, S S; Vodak, D D; Meza-Zepeda, L A LA; Hovig, E E; Myklebost, O O; Knappskog, S S; Lønning, P E PE
Publication Date: 2018-07-10

Variant appearance in text: EZH2: Y646H
PubMed Link: 29991680
Variant Present in the following documents:
  • 41467_2018_5063_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Targetable vulnerabilities in T- and NK-cell lymphomas identified through preclinical models.

Nature Communications
Ng, Samuel Y SY; Yoshida, Noriaki N; Christie, Amanda L AL; Ghandi, Mahmoud M; Dharia, Neekesh V NV; Dempster, Joshua J; Murakami, Mark M; Shigemori, Kay K; Morrow, Sara N SN; Van Scoyk, Alexandria A; Cordero, Nicolas A NA; Stevenson, Kristen E KE; Puligandla, Maneka M; Haas, Brian B; Lo, Christopher C; Meyers, Robin R; Gao, Galen G; Cherniack, Andrew A; Louissaint, Abner A; Nardi, Valentina V; Thorner, Aaron R AR; Long, Henry H; Qiu, Xintao X; Morgan, Elizabeth A EA; Dorfman, David M DM; Fiore, Danilo D; Jang, Julie J; Epstein, Alan L AL; Dogan, Ahmet A; Zhang, Yanming Y; Horwitz, Steven M SM; Jacobsen, Eric D ED; Santiago, Solimar S; Ren, Jian-Guo JG; Guerlavais, Vincent V; Annis, D Allen DA; Aivado, Manuel M; Saleh, Mansoor N MN; Mehta, Amitkumar A; Tsherniak, Aviad A; Root, David D; Vazquez, Francisca F; Hahn, William C WC; Inghirami, Giorgio G; Aster, Jon C JC; Weinstock, David M DM; Koch, Raphael R
Publication Date: 2018-05-22

Variant appearance in text: EZH2: Y646H
PubMed Link: 29789628
Variant Present in the following documents:
  • 41467_2018_4356_MOESM12_ESM.xlsx, sheet 2
  • 41467_2018_4356_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing of nodal marginal zone lymphomas identifies recurrent BRAF mutations.

Leukemia
Pillonel, V V; Juskevicius, D D; Ng, C K Y CKY; Bodmer, A A; Zettl, A A; Jucker, D D; Dirnhofer, S S; Tzankov, A A
Publication Date: 2018-11

Variant appearance in text: EZH2: 1936T>C; Tyr646His
PubMed Link: 29556019
Variant Present in the following documents:
  • 41375_2018_82_MOESM9_ESM.xlsx, sheet 1
  • 41375_2018_82_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: EZH2: 1936T>C; Y646H; rs267601395
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page



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
Publication Date: 2018-03

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 28804123
Variant Present in the following documents:
  • leu2017251x2.xlsx, sheet 3
  • leu2017251x2.xlsx, sheet 4
View BVdb publication page



EZH2 in Cancer Progression and Potential Application in Cancer Therapy: A Friend or Foe?

International Journal Of Molecular Sciences
Yan, Ke-Sin KS; Lin, Chia-Yuan CY; Liao, Tan-Wei TW; Peng, Cheng-Ming CM; Lee, Shou-Chun SC; Liu, Yi-Jui YJ; Chan, Wing P WP; Chou, Ruey-Hwang RH
Publication Date: 2017-05-31

Variant appearance in text: EZH2: Y646H
PubMed Link: 28561778
Variant Present in the following documents:
  • Main text
View BVdb publication page



EZH2 alterations in follicular lymphoma: biological and clinical correlations.

Blood Cancer Journal
Huet, S S; Xerri, L L; Tesson, B B; Mareschal, S S; Taix, S S; Mescam-Mancini, L L; Sohier, E E; Carrère, M M; Lazarovici, J J; Casasnovas, O O; Tonon, L L; Boyault, S S; Hayette, S S; Haioun, C C; Fabiani, B B; Viari, A A; Jardin, F F; Salles, G G
Publication Date: 2017-04-21

Variant appearance in text: EZH2: Y646H
PubMed Link: 28430172
Variant Present in the following documents:
  • Main text
  • bcj201732a.pdf
View BVdb publication page



Mutations of CREBBP and SOCS1 are independent prognostic factors in diffuse large B cell lymphoma: mutational analysis of the SAKK 38/07 prospective clinical trial cohort.

Journal Of Hematology & Oncology
Juskevicius, Darius D; Jucker, David D; Klingbiel, Dirk D; Mamot, Christoph C; Dirnhofer, Stephan S; Tzankov, Alexandar A
Publication Date: 2017-03-17

Variant appearance in text: EZH2: 1936T>C; Tyr646His; rs267601395
PubMed Link: 28302137
Variant Present in the following documents:
  • 13045_2017_438_MOESM1_ESM.xlsx, sheet 3
  • 13045_2017_438_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Combined copy number and mutation analysis identifies oncogenic pathways associated with transformation of follicular lymphoma.

Leukemia
Bouska, A A; Zhang, W W; Gong, Q Q; Iqbal, J J; Scuto, A A; Vose, J J; Ludvigsen, M M; Fu, K K; Weisenburger, D D DD; Greiner, T C TC; Gascoyne, R D RD; Rosenwald, A A; Ott, G G; Campo, E E; Rimsza, L M LM; Delabie, J J; Jaffe, E S ES; Braziel, R M RM; Connors, J M JM; Wu, C-I CI; Staudt, L M LM; D'Amore, F F; McKeithan, T W TW; Chan, W C WC
Publication Date: 2017-01

Variant appearance in text: EZH2: Y646H
PubMed Link: 27389057
Variant Present in the following documents:
  • NIHMS790817-supplement-6.xlsx, sheet 1
View BVdb publication page



Targeting histone methyltransferases and demethylases in clinical trials for cancer therapy.

Clinical Epigenetics
Morera, Ludovica L; Lübbert, Michael M; Jung, Manfred M
Publication Date: 2016

Variant appearance in text: EZH2: Y646H
PubMed Link: 27222667
Variant Present in the following documents:
  • Main text
  • 13148_2016_Article_223.pdf
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: EZH2: Y646H
PubMed Link: 26919633
Variant Present in the following documents:
  • pone.0149405.s010.xlsx, sheet 1
View BVdb publication page



Targeting EZH2 in cancer.

Nature Medicine
Kim, Kimberly H KH; Roberts, Charles W M CW
Publication Date: 2016-02

Variant appearance in text: EZH2: Y646H
PubMed Link: 26845405
Variant Present in the following documents:
  • Main text
View BVdb publication page



Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro.

Human Mutation
Cohen, Ana S A AS; Yap, Damian B DB; Lewis, M E Suzanne ME; Chijiwa, Chieko C; Ramos-Arroyo, Maria A MA; Tkachenko, Natália N; Milano, Valentina V; Fradin, Mélanie M; McKinnon, Margaret L ML; Townsend, Katelin N KN; Xu, Jieqing J; Van Allen, M I MI; Ross, Colin J D CJ; Dobyns, William B WB; Weaver, David D DD; Gibson, William T WT
Publication Date: 2016-03

Variant appearance in text: EZH2: Tyr646His
PubMed Link: 26694085
Variant Present in the following documents:
  • Main text
  • HUMU-37-301.pdf
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: EZH2: Y646H
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Targeted next generation sequencing of parotid gland cancer uncovers genetic heterogeneity.

Oncotarget
Grünewald, Inga I; Vollbrecht, Claudia C; Meinrath, Jeannine J; Meyer, Moritz F MF; Heukamp, Lukas C LC; Drebber, Uta U; Quaas, Alexander A; Beutner, Dirk D; Hüttenbrink, Karl-Bernd KB; Wardelmann, Eva E; Hartmann, Wolfgang W; Büttner, Reinhard R; Odenthal, Margarete M; Stenner, Markus M
Publication Date: 2015-07-20

Variant appearance in text: EZH2: 1936T>C; Y646H
PubMed Link: 26053092
Variant Present in the following documents:
  • Main text
  • oncotarget-06-18224-s001.pdf
  • oncotarget-06-18224.pdf
View BVdb publication page