CREBBP c.3274C>T ;(p.Q1092*)

Variant ID: 16-3808950-G-A

NM_004380.2(CREBBP):c.3274C>T;(p.Q1092*)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: CREBBP: Q1092*
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: CREBBP: Q1092*
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



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: Q1092X
PubMed Link: 34732714
Variant Present in the following documents:
  • 41467_2021_26570_MOESM1_ESM.pdf
View BVdb publication page



Successful Management of a Patient with Refractory Primary Central Nervous System Lymphoma by Zanubrutinib.

Oncotargets And Therapy
Cheng, Qiansong Q; Wang, Jing J; Lv, Chenglan C; Xu, Jingyan J
Publication Date: 2021

Variant appearance in text: CREBBP: 3274C>T
PubMed Link: 34079282
Variant Present in the following documents:
  • Main text
  • ott-14-3367.pdf
View BVdb publication page



Chromatin dysregulation and DNA methylation at transcription start sites associated with transcriptional repression in cancers.

Nature Communications
Ando, Mizuo M; Saito, Yuki Y; Xu, Guorong G; Bui, Nam Q NQ; Medetgul-Ernar, Kate K; Pu, Minya M; Fisch, Kathleen K; Ren, Shuling S; Sakai, Akihiro A; Fukusumi, Takahito T; Liu, Chao C; Haft, Sunny S; Pang, John J; Mark, Adam A; Gaykalova, Daria A DA; Guo, Theresa T; Favorov, Alexander V AV; Yegnasubramanian, Srinivasan S; Fertig, Elana J EJ; Ha, Patrick P; Tamayo, Pablo P; Yamasoba, Tatsuya T; Ideker, Trey T; Messer, Karen K; Califano, Joseph A JA
Publication Date: 2019-05-16

Variant appearance in text: CREBBP: Q1092X
PubMed Link: 31097695
Variant Present in the following documents:
  • Main text
  • 41467_2019_9937_MOESM2_ESM.pdf
  • 41467_2019_Article_9937.pdf
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: CREBBP: Q1092X
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page