CREBBP c.4303G>A ;(p.D1435N)

Variant ID: 16-3788651-C-T

NM_004380.2(CREBBP):c.4303G>A;(p.D1435N)

This variant was identified in 18 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: 4303G>A; D1435N
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



A 9-LncRNA Signature for Predicting Prognosis and Immune Response in Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology
Wang, Xiaoxuan X; Lu, Yaxiao Y; Liu, Ziyi Z; Zhang, Yidan Y; He, You Y; Sun, Cong C; Li, Lanfang L; Zhai, Qiongli Q; Meng, Bin B; Ren, Xiubao X; Wu, Xudong X; Zhang, Huilai H; Wang, Xianhuo X
Publication Date: 2022

Variant appearance in text: CREBBP: 4303G>A; Asp1435Asn
PubMed Link: 35874768
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: CREBBP: 4303G>A; D1435N
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



A bipartite graph-based expected networks approach identifies DDR genes not associated with TMB yet predictive of immune checkpoint blockade response.

Cell Reports. Medicine
Weir, William H WH; Mucha, Peter J PJ; Kim, William Y WY
Publication Date: 2022-05-17

Variant appearance in text: CREBBP: 4303G>A; Asp1435Asn
PubMed Link: 35584624
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
View BVdb publication page



Molecular subclusters of follicular lymphoma: a report from the United Kingdom's Haematological Malignancy Research Network.

Blood Advances
Crouch, Simon S; Painter, Daniel D; Barrans, Sharon L SL; Roman, Eve E; Beer, Philip A PA; Cooke, Susanna L SL; Glover, Paul P; Van Hoppe, Suzan J L SJL; Webster, Nichola N; Lacy, Stuart E SE; Ruiz, Camilo C; Campbell, Peter J PJ; Hodson, Daniel J DJ; Patmore, Russell R; Burton, Cathy C; Smith, Alexandra A; Tooze, Reuben M RM
Publication Date: 2022-11-08

Variant appearance in text: CREBBP: D1435N
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Clonal myelopoiesis promotes adverse outcomes in chronic kidney disease.

Leukemia
Dawoud, Ahmed A Z AAZ; Gilbert, Rodney D RD; Tapper, William J WJ; Cross, Nicholas C P NCP
Publication Date: 2022-02

Variant appearance in text: CREBBP: D1435N
PubMed Link: 34413458
Variant Present in the following documents:
  • 41375_2021_1382_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: CREBBP: D1435N
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_Article_226.pdf
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Nature Communications
Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J
Publication Date: 2021-06-18

Variant appearance in text: CREBBP: 4303G>A; D1435N
PubMed Link: 34145257
Variant Present in the following documents:
  • 41467_2021_24043_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Proposal and validation of a method to classify genetic subtypes of diffuse large B cell lymphoma.

Scientific Reports
Pedrosa, Lucía L; Fernández-Miranda, Ismael I; Pérez-Callejo, David D; Quero, Cristina C; Rodríguez, Marta M; Martín-Acosta, Paloma P; Gómez, Sagrario S; González-Rincón, Julia J; Santos, Adrián A; Tarin, Carlos C; García, Juan F JF; García-Arroyo, Francisco R FR; Rueda, Antonio A; Camacho, Francisca I FI; García-Cosío, Mónica M; Heredero, Ana A; Llanos, Marta M; Mollejo, Manuela M; Piris-Villaespesa, Miguel M; Gómez-Codina, José J; Yanguas-Casás, Natalia N; Sánchez, Antonio A; Piris, Miguel A MA; Provencio, Mariano M; Sánchez-Beato, Margarita M
Publication Date: 2021-01-21

Variant appearance in text: CREBBP: D1435N
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: CREBBP: 4303G>A; D1435N
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Outcome of Targeted Therapy Recommendations for Metastatic and Recurrent Head and Neck Cancers.

Cancers
Taghizadeh, Hossein H; Mader, Robert M RM; Müllauer, Leonhard L; Fuereder, Thorsten T; Kautzky-Willer, Alexandra A; Prager, Gerald W GW
Publication Date: 2020-11-15

Variant appearance in text: CREBBP: 4303G>A
PubMed Link: 33203166
Variant Present in the following documents:
  • Main text
  • cancers-12-03381.pdf
View BVdb publication page



Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
Publication Date: 2021-12-01

Variant appearance in text: CREBBP: D1435N
PubMed Link: 33147938
Variant Present in the following documents:
  • 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 14
  • 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3
View BVdb publication page



Multiclonal complexity of pediatric acute lymphoblastic leukemia and the prognostic relevance of subclonal mutations

Haematologica
Antić, Željko Ž; Yu, Jiangyan J; Van Reijmersdal, Simon V SV; Van Dijk, Anke A; Dekker, Linde L; Segerink, Wouter H WH; Sonneveld, Edwin E; Fiocco, Marta M; Pieters, Rob R; Hoogerbrugge, Peter M PM; Van Leeuwen, Frank N FN; Van Kessel, Ad Geurts AG; Waanders, Esme E; Kuiper, Roland P RP
Publication Date: 2021-12-01

Variant appearance in text: CREBBP: D1435N
PubMed Link: 33147938
Variant Present in the following documents:
  • 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 3
  • 2020_259226_ANTIC_SUPPL_TABLES.xlsx, sheet 14
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: D1435N
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Recurrent noncoding U1 snRNA mutations drive cryptic splicing in SHH medulloblastoma.

Nature
Suzuki, Hiromichi H; Kumar, Sachin A SA; Shuai, Shimin S; Diaz-Navarro, Ander A; Gutierrez-Fernandez, Ana A; De Antonellis, Pasqualino P; Cavalli, Florence M G FMG; Juraschka, Kyle K; Farooq, Hamza H; Shibahara, Ichiyo I; Vladoiu, Maria C MC; Zhang, Jiao J; Abeysundara, Namal N; Przelicki, David D; Skowron, Patryk P; Gauer, Nicole N; Luu, Betty B; Daniels, Craig C; Wu, Xiaochong X; Forget, Antoine A; Momin, Ali A; Wang, Jun J; Dong, Weifan W; Kim, Seung-Ki SK; Grajkowska, Wieslawa A WA; Jouvet, Anne A; Fèvre-Montange, Michelle M; Garrè, Maria Luisa ML; Nageswara Rao, Amulya A AA; Giannini, Caterina C; Kros, Johan M JM; French, Pim J PJ; Jabado, Nada N; Ng, Ho-Keung HK; Poon, Wai Sang WS; Eberhart, Charles G CG; Pollack, Ian F IF; Olson, James M JM; Weiss, William A WA; Kumabe, Toshihiro T; López-Aguilar, Enrique E; Lach, Boleslaw B; Massimino, Maura M; Van Meir, Erwin G EG; Rubin, Joshua B JB; Vibhakar, Rajeev R; Chambless, Lola B LB; Kijima, Noriyuki N; Klekner, Almos A; Bognár, László L; Chan, Jennifer A JA; Faria, Claudia C CC; Ragoussis, Jiannis J; Pfister, Stefan M SM; Goldenberg, Anna A; Wechsler-Reya, Robert J RJ; Bailey, Swneke D SD; Garzia, Livia L; Morrissy, A Sorana AS; Marra, Marco A MA; Huang, Xi X; Malkin, David D; Ayrault, Olivier O; Ramaswamy, Vijay V; Puente, Xose S XS; Calarco, John A JA; Stein, Lincoln L; Taylor, Michael D MD
Publication Date: 2019-10

Variant appearance in text: CREBBP: D1435N
PubMed Link: 31664194
Variant Present in the following documents:
  • NIHMS1539056-supplement-2.xlsx, sheet 5
View BVdb publication page



Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.

Bmc Cancer
Koyama, Takahiko T; Rhrissorrakrai, Kahn K; Parida, Laxmi L
Publication Date: 2019-02-01

Variant appearance in text: CREBBP: 4303G>A; D1435N
PubMed Link: 30709382
Variant Present in the following documents:
  • 12885_2019_5313_MOESM2_ESM.xlsx, sheet 1
  • 12885_2019_5313_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



The genomic landscape of cutaneous SCC reveals drivers and a novel azathioprine associated mutational signature.

Nature Communications
Inman, Gareth J GJ; Wang, Jun J; Nagano, Ai A; Alexandrov, Ludmil B LB; Purdie, Karin J KJ; Taylor, Richard G RG; Sherwood, Victoria V; Thomson, Jason J; Hogan, Sarah S; Spender, Lindsay C LC; South, Andrew P AP; Stratton, Michael M; Chelala, Claude C; Harwood, Catherine A CA; Proby, Charlotte M CM; Leigh, Irene M IM
Publication Date: 2018-09-10

Variant appearance in text: CREBBP: 4303G>A; D1435N
PubMed Link: 30202019
Variant Present in the following documents:
  • 41467_2018_6027_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



The whole-genome landscape of medulloblastoma subtypes.

Nature
Northcott, Paul A PA; Buchhalter, Ivo I; Morrissy, A Sorana AS; Hovestadt, Volker V; Weischenfeldt, Joachim J; Ehrenberger, Tobias T; Gröbner, Susanne S; Segura-Wang, Maia M; Zichner, Thomas T; Rudneva, Vasilisa A VA; Warnatz, Hans-Jörg HJ; Sidiropoulos, Nikos N; Phillips, Aaron H AH; Schumacher, Steven S; Kleinheinz, Kortine K; Waszak, Sebastian M SM; Erkek, Serap S; Jones, David T W DTW; Worst, Barbara C BC; Kool, Marcel M; Zapatka, Marc M; Jäger, Natalie N; Chavez, Lukas L; Hutter, Barbara B; Bieg, Matthias M; Paramasivam, Nagarajan N; Heinold, Michael M; Gu, Zuguang Z; Ishaque, Naveed N; Jäger-Schmidt, Christina C; Imbusch, Charles D CD; Jugold, Alke A; Hübschmann, Daniel D; Risch, Thomas T; Amstislavskiy, Vyacheslav V; Gonzalez, Francisco German Rodriguez FGR; Weber, Ursula D UD; Wolf, Stephan S; Robinson, Giles W GW; Zhou, Xin X; Wu, Gang G; Finkelstein, David D; Liu, Yanling Y; Cavalli, Florence M G FMG; Luu, Betty B; Ramaswamy, Vijay V; Wu, Xiaochong X; Koster, Jan J; Ryzhova, Marina M; Cho, Yoon-Jae YJ; Pomeroy, Scott L SL; Herold-Mende, Christel C; Schuhmann, Martin M; Ebinger, Martin M; Liau, Linda M LM; Mora, Jaume J; McLendon, Roger E RE; Jabado, Nada N; Kumabe, Toshihiro T; Chuah, Eric E; Ma, Yussanne Y; Moore, Richard A RA; Mungall, Andrew J AJ; Mungall, Karen L KL; Thiessen, Nina N; Tse, Kane K; Wong, Tina T; Jones, Steven J M SJM; Witt, Olaf O; Milde, Till T; Von Deimling, Andreas A; Capper, David D; Korshunov, Andrey A; Yaspo, Marie-Laure ML; Kriwacki, Richard R; Gajjar, Amar A; Zhang, Jinghui J; Beroukhim, Rameen R; Fraenkel, Ernest E; Korbel, Jan O JO; Brors, Benedikt B; Schlesner, Matthias M; Eils, Roland R; Marra, Marco A MA; Pfister, Stefan M SM; Taylor, Michael D MD; Lichter, Peter P
Publication Date: 2017-07-19

Variant appearance in text: CREBBP: D1435N
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology
Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP
Publication Date: 2015-03

Variant appearance in text: CREBBP: D1435N
PubMed Link: 25794154
Variant Present in the following documents:
  • pcbi.1004147.s001.xlsx, sheet 1
View BVdb publication page