CREBBP c.778C>T ;(p.Q260*)

Variant ID: 16-3900318-G-A

NM_004380.2(CREBBP):c.778C>T;(p.Q260*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


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: 778C>T; Q260*
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
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: Q260X
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Hepatoid adenocarcinoma of the stomach: a unique subgroup with distinct clinicopathological and molecular features.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Wang, Yakun Y; Sun, Li L; Li, Zhongwu Z; Gao, Jing J; Ge, Sai S; Zhang, Cheng C; Yuan, Jiajia J; Wang, Xicheng X; Li, Jian J; Lu, Zhihao Z; Gong, Jifang J; Lu, Ming M; Zhou, Jun J; Peng, Zhi Z; Shen, Lin L; Zhang, Xiaotian X
Publication Date: 2019-11

Variant appearance in text: CREBBP: Q260X
PubMed Link: 30989433
Variant Present in the following documents:
  • 10120_2019_965_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Benign and malignant tumors in Rubinstein-Taybi syndrome.

American Journal Of Medical Genetics. Part A
Boot, Max V MV; van Belzen, Martine J MJ; Overbeek, Lucy I LI; Hijmering, Nathalie N; Mendeville, Matias M; Waisfisz, Quinten Q; Wesseling, Pieter P; Hennekam, Raoul C RC; de Jong, Daphne D
Publication Date: 2018-03

Variant appearance in text: CREBBP: 778C>T
PubMed Link: 29359884
Variant Present in the following documents:
  • Main text
  • AJMG-176-597.pdf
View BVdb publication page



CREBBP and EP300 mutational spectrum and clinical presentations in a cohort of Swedish patients with Rubinstein-Taybi syndrome.

Molecular Genetics & Genomic Medicine
Wincent, Josephine J; Luthman, Aron A; van Belzen, Martine M; van der Lans, Christian C; Albert, Johanna J; Nordgren, Ann A; Anderlid, Britt-Marie BM
Publication Date: 2016-01

Variant appearance in text: CREBBP: 778C>T; Gln260X
PubMed Link: 26788536
Variant Present in the following documents:
  • Main text
  • MGG3-4-039.pdf
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: CREBBP: 778C>T; Q260*
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
View BVdb publication page