CREBBP c.5282C>A ;(p.S1761*)

Variant ID: 16-3779766-G-T

NM_004380.2(CREBBP):c.5282C>A;(p.S1761*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Inhibition of histone acetyltransferase function radiosensitizes CREBBP/EP300 mutants via repression of homologous recombination, potentially targeting a gain of function.

Nature Communications
Kumar, Manish M; Molkentine, David D; Molkentine, Jessica J; Bridges, Kathleen K; Xie, Tongxin T; Yang, Liangpeng L; Hefner, Andrew A; Gao, Meng M; Bahri, Reshub R; Dhawan, Annika A; Frederick, Mitchell J MJ; Seth, Sahil S; Abdelhakiem, Mohamed M; Beadle, Beth M BM; Johnson, Faye F; Wang, Jing J; Shen, Li L; Heffernan, Timothy T; Sheth, Aakash A; Ferris, Robert L RL; Myers, Jeffrey N JN; Pickering, Curtis R CR; Skinner, Heath D HD
Publication Date: 2021-11-03

Variant appearance in text: CREBBP: S1761X
PubMed Link: 34732714
Variant Present in the following documents:
  • 41467_2021_26570_MOESM1_ESM.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CREBBP: S1761*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Interleukin 6 is increased in preclinical HNSCC models of acquired cetuximab resistance, but is not required for maintenance of resistance.

Plos One
O'Keefe, Rachel A RA; Bhola, Neil E NE; Lee, David S DS; Johnson, Daniel E DE; Grandis, Jennifer R JR
Publication Date: 2020

Variant appearance in text: CREBBP: S1761*
PubMed Link: 31914141
Variant Present in the following documents:
  • Main text
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: 5282C>A; S1761*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology
Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW
Publication Date: 2014-11-27

Variant appearance in text: CREBBP: S1761*
PubMed Link: 25428177
Variant Present in the following documents:
  • 40360_2014_350_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



CREBBP mutations in relapsed acute lymphoblastic leukaemia.

Nature
Mullighan, Charles G CG; Zhang, Jinghui J; Kasper, Lawryn H LH; Lerach, Stephanie S; Payne-Turner, Debbie D; Phillips, Letha A LA; Heatley, Sue L SL; Holmfeldt, Linda L; Collins-Underwood, J Racquel JR; Ma, Jing J; Buetow, Kenneth H KH; Pui, Ching-Hon CH; Baker, Sharyn D SD; Brindle, Paul K PK; Downing, James R JR
Publication Date: 2011-03-10

Variant appearance in text: CREBBP: S1761*
PubMed Link: 21390130
Variant Present in the following documents:
  • Main text
View BVdb publication page