KEGG   VARIANT: 2146v1
Entry
2146v1                      Variant                                
Name
EZH2 mutation
Gene
EZH2  enhancer of zeste 2 polycomb repressive complex 2 subunit [KO:K11430]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation Y646F
ClinVar: 76768
dbSNP: rs267601394
COSM: 37028
Variation
mutation Y646N
ClinVar: 376217
dbSNP: rs267601395
COSM: 37031
Variation
mutation Y646H
ClinVar: 76769
dbSNP: rs267601395
COSM: 37030
Variation
mutation A682G
ClinVar: 376219
dbSNP: rs1057519833
Drug target
Tazemetostat (DG03020): D11485<JP/US>
Reference
  Authors
Morin RD, Mendez-Lago M, Mungall AJ, Goya R, Mungall KL, Corbett RD, Johnson NA, Severson TM, Chiu R, Field M, Jackman S, Krzywinski M, Scott DW, Trinh DL, Tamura-Wells J, Li S, Firme MR, Rogic S, Griffith M, Chan S, Yakovenko O, Meyer IM, Zhao EY, Smailus D, Moksa M, Chittaranjan S, Rimsza L, Brooks-Wilson A, Spinelli JJ, Ben-Neriah S, Meissner B, Woolcock B, Boyle M, McDonald H, Tam A, Zhao Y, Delaney A, Zeng T, Tse K, Butterfield Y, Birol I, Holt R, Schein J, Horsman DE, Moore R, Jones SJ, Connors JM, Hirst M, Gascoyne RD, Marra MA
  Title
Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma.
  Journal
Nature 476:298-303 (2011)
DOI:10.1038/nature10351
Reference
  Authors
Bodor C, Grossmann V, Popov N, Okosun J, O'Riain C, Tan K, Marzec J, Araf S, Wang J, Lee AM, Clear A, Montoto S, Matthews J, Iqbal S, Rajnai H, Rosenwald A, Ott G, Campo E, Rimsza LM, Smeland EB, Chan WC, Braziel RM, Staudt LM, Wright G, Lister TA, Elemento O, Hills R, Gribben JG, Chelala C, Matolcsy A, Kohlmann A, Haferlach T, Gascoyne RD, Fitzgibbon J
  Title
EZH2 mutations are frequent and represent an early event in follicular lymphoma.
  Journal
Blood 122:3165-8 (2013)
DOI:10.1182/blood-2013-04-496893
Reference
  Authors
Italiano A, Soria JC, Toulmonde M, Michot JM, Lucchesi C, Varga A, Coindre JM, Blakemore SJ, Clawson A, Suttle B, McDonald AA, Woodruff M, Ribich S, Hedrick E, Keilhack H, Thomson B, Owa T, Copeland RA, Ho PTC, Ribrag V
  Title
Tazemetostat, an EZH2 inhibitor, in relapsed or refractory B-cell non-Hodgkin lymphoma and advanced solid tumours: a first-in-human, open-label, phase 1 study.
  Journal
Lancet Oncol 19:649-659 (2018)
DOI:10.1016/S1470-2045(18)30145-1
Reference
  Authors
Morschhauser F, Tilly H, Chaidos A, McKay P, Phillips T, Assouline S, Batlevi CL, Campbell P, Ribrag V, Damaj GL, Dickinson M, Jurczak W, Kazmierczak M, Opat S, Radford J, Schmitt A, Yang J, Whalen J, Agarwal S, Adib D, Salles G
  Title
Tazemetostat for patients with relapsed or refractory follicular lymphoma: an open-label, single-arm, multicentre, phase 2 trial.
  Journal
Lancet Oncol 21:1433-1442 (2020)
DOI:10.1016/S1470-2045(20)30441-1
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