CREBBP c.694C>T ;(p.Q232*)

Variant ID: 16-3900402-G-A

NM_004380.2(CREBBP):c.694C>T;(p.Q232*)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: CREBBP: 694C>T; Gln232Ter
PubMed Link: 36945587
Variant Present in the following documents:
  • media-1.xlsx, sheet 14
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: CREBBP: 694C>T; Q232*
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
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: CREBBP: Q232*
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



A flexible computational pipeline for research analyses of unsolved clinical exome cases.

Npj Genomic Medicine
Lassmann, Timo T; Francis, Richard W RW; Weeks, Alexia A; Tang, Dave D; Jamieson, Sarra E SE; Broley, Stephanie S; Dawkins, Hugh J S HJS; Dreyer, Lauren L; Goldblatt, Jack J; Groza, Tudor T; Kamien, Benjamin B; Kiraly-Borri, Cathy C; McKenzie, Fiona F; Murphy, Lesley L; Pachter, Nicholas N; Pathak, Gargi G; Poulton, Cathryn C; Samanek, Amanda A; Skoss, Rachel R; Slee, Jennie J; Townshend, Sharron S; Ward, Michelle M; Baynam, Gareth S GS; Blackwell, Jenefer M JM
Publication Date: 2020-12-10

Variant appearance in text: CREBBP: Gln232Ter
PubMed Link: 33303739
Variant Present in the following documents:
  • 41525_2020_Article_161.pdf
View BVdb publication page



Ultra-Mutation in IDH Wild-Type Glioblastomas of Patients Younger than 55 Years is Associated with Defective Mismatch Repair, Microsatellite Instability, and Giant Cell Enrichment.

Cancers
Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Piredda, Maria Liliana ML; Caffo, Maria M; Cardali, Salvatore Massimiliano SM; Germanò, Antonino A; Cingarlini, Sara S; Ghimenton, Claudio C; Scarpa, Aldo A
Publication Date: 2019-08-30

Variant appearance in text: CREBBP: Gln232Ter
PubMed Link: 31480372
Variant Present in the following documents:
  • cancers-11-01279-s001.xlsx, sheet 2
View BVdb publication page



Genome-wide DNA methylation profiling shows molecular heterogeneity of anaplastic pleomorphic xanthoastrocytoma.

Cancer Science
Nakamura, Taishi T; Fukuoka, Kohei K; Nakano, Yoshiko Y; Yamasaki, Kai K; Matsushita, Yuko Y; Yamashita, Satoshi S; Ikeda, Junji J; Udaka, Naoko N; Tanoshima, Reo R; Shiba, Norio N; Tateishi, Kensuke K; Yamanaka, Shoji S; Yamamoto, Tetsuya T; Hirato, Junko J; Ichimura, Koichi K
Publication Date: 2019-02

Variant appearance in text: CREBBP: 694C>T; Gln232*
PubMed Link: 30609203
Variant Present in the following documents:
  • CAS-110-828-s011.xlsx, sheet 1
View BVdb publication page



Patient-specific molecular alterations are associated with metastatic clear cell renal cell cancer progressing under tyrosine kinase inhibitor therapy.

Oncotarget
Dietz, Steffen S; Sültmann, Holger H; Du, YueJun Y; Reisinger, Eva E; Riediger, Anja Lisa AL; Volckmar, Anna-Lena AL; Stenzinger, Albrecht A; Schlesner, Matthias M; Jäger, Dirk D; Hohenfellner, Markus M; Duensing, Stefan S; Grüllich, Carsten C; Pahernik, Sascha S
Publication Date: 2017-09-26

Variant appearance in text: CREBBP: Q232X
PubMed Link: 29088767
Variant Present in the following documents:
  • oncotarget-08-74049-s002.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: CREBBP: 694C>T; Q232*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page