CREBBP c.5040_5042del ;(p.L1681del)

Variant ID: 16-3781323-CAAG-C

NM_004380.2(CREBBP):c.5040_5042del;(p.L1681del)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: CREBBP: 5040_5042delCTT
PubMed Link: 35320922
Variant Present in the following documents:
  • 2021_280464_QUIVORON_SUPPL.pdf
View BVdb publication page



Monitoring of Leukemia Clones in B-cell Acute Lymphoblastic Leukemia at Diagnosis and During Treatment by Single-cell DNA Amplicon Sequencing.

Hemasphere
Meyers, Sarah S; Alberti-Servera, Llucia L; Gielen, Olga O; Erard, Margot M; Swings, Toon T; De Bie, Jolien J; Michaux, Lucienne L; Dewaele, Barbara B; Boeckx, Nancy N; Uyttebroeck, Anne A; De Keersmaecker, Kim K; Maertens, Johan J; Segers, Heidi H; Cools, Jan J; Demeyer, Sofie S
Publication Date: 2022-04

Variant appearance in text: CREBBP: 5040_5042delCTT; L1681del
PubMed Link: 35291210
Variant Present in the following documents:
  • hs9-6-e700-s004.xlsx, sheet 6
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: CREBBP: 5040_5042del
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
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: CREBBP: 5040_5042delCTT; L1681del
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s002.xlsx, sheet 1
View BVdb publication page