CREBBP c.5235G>A ;(p.W1745*)

Variant ID: 16-3779813-C-T

NM_004380.2(CREBBP):c.5235G>A;(p.W1745*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Wilms tumor mutational subclasses converge to drive CCND2 overexpression.

Medrxiv : The Preprint Server For Health Sciences
Xu, Lin L; Desai, Kavita K; Kim, Jiwoong J; Zhou, Qinbo Q; Guo, Lei L; Xiao, Xue X; Zhang, Yanfeng Y; Zhou, Li L; Yuksel, Aysen A; Catchpoole, Daniel R DR; Amatruda, James F JF; Chen, Kenneth S KS
Publication Date: 2023-02-02

Variant appearance in text: CREBBP: 5235G>A; Trp1745*
PubMed Link: 36778325
Variant Present in the following documents:
  • media-4.xlsx, sheet 1
View BVdb publication page



Integrative Genomic Analysis of Pediatric Myeloid-Related Acute Leukemias Identifies Novel Subtypes and Prognostic Indicators.

Blood Cancer Discovery
Fornerod, Maarten M; Ma, Jing J; Noort, Sanne S; Liu, Yu Y; Walsh, Michael P MP; Shi, Lei L; Nance, Stephanie S; Liu, Yanling Y; Wang, Yuanyuan Y; Song, Guangchun G; Lamprecht, Tamara T; Easton, John J; Mulder, Heather L HL; Yergeau, Donald D; Myers, Jacquelyn J; Kamens, Jennifer L JL; Obeng, Esther A EA; Pigazzi, Martina M; Jarosova, Marie M; Kelaidi, Charikleia C; Polychronopoulou, Sophia S; Lamba, Jatinder K JK; Baker, Sharyn D SD; Rubnitz, Jeffrey E JE; Reinhardt, Dirk D; van den Heuvel-Eibrink, Marry M MM; Locatelli, Franco F; Hasle, Henrik H; Klco, Jeffery M JM; Downing, James R JR; Zhang, Jinghui J; Pounds, Stanley S; Zwaan, C Michel CM; Gruber, Tanja A TA; , ; , ; , ; , ; , ; ,
Publication Date: 2021-11

Variant appearance in text: CREBBP: W1745*
PubMed Link: 34778799
Variant Present in the following documents:
  • bloodcandisc-2-586-s001.xlsx, sheet 11
View BVdb publication page



Hereditary cancer syndrome-associated pathogenic variants are common in patients with hematologic malignancies subsequent to primary solid cancer.

Journal Of Cancer
Oh, Joowon J; Kim, Yu Ri YR; Kim, Yoonjung Y; Kim, Boyeon B; Park, Kyung Sun KS; Nam, Seong-Hyeuk SH; Lee, Kyung-A KA
Publication Date: 2021

Variant appearance in text: CREBBP: 5235G>A; Trp1745*
PubMed Link: 34093829
Variant Present in the following documents:
  • jcav12p4288s2.xlsx, sheet 3
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: CREBBP: W1745X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page