CREBBP c.4336C>T ;(p.R1446C)

Variant ID: 16-3788618-G-A

NM_004380.2(CREBBP):c.4336C>T;(p.R1446C)

This variant was identified in 111 publications

View GRCh38 version.




Publications:


Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s001.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: CREBBP: R1446C; rs398124146
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Spectrum and clinical features of gene mutations in Chinese pediatric acute lymphoblastic leukemia.

Bmc Pediatrics
Shen, Diying D; Liu, Lixia L; Xu, Xiaojun X; Song, Hua H; Zhang, Jingying J; Xu, Weiqun W; Zhao, Fenying F; Liang, Juan J; Liao, Chan C; Wang, Yan Y; Xia, Tian T; Wang, Chengcheng C; Lou, Feng F; Cao, Shanbo S; Qin, Jiayue J; Tang, Yongmin Y
Publication Date: 2023-02-04

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 36739388
Variant Present in the following documents:
  • 12887_2023_3856_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of Altered Primary Immunodeficiency-Associated Genes and Their Implications in Pediatric Cancers.

Cancers
Standing, Shaelene S; Tran, Son S; Murguia-Favela, Luis L; Kovalchuk, Olga O; Bose, Pinaki P; Narendran, Aru A
Publication Date: 2022-11-30

Variant appearance in text: CREBBP: R1446C
PubMed Link: 36497424
Variant Present in the following documents:
  • Main text
  • cancers-14-05942.pdf
View BVdb publication page



Circulating tumor DNA mutation profile is associated with the prognosis and treatment response of Chinese patients with newly diagnosed diffuse large B-cell lymphoma.

Frontiers In Oncology
Guan, Tao T; Zhang, Min M; Liu, Xiaolan X; Li, Jing J; Xin, Beibei B; Ren, Yanxin Y; Yang, Yuchao Y; Wang, Hui H; Zhao, Mengjing M; Huang, Yunpeng Y; Guo, Xiaojing X; Du, Jun J; Qian, Wenbin W; Su, Liping L
Publication Date: 2022

Variant appearance in text: CREBBP: R1446C
PubMed Link: 36465410
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 3
View BVdb publication page



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: 4336C>T; R1446C
PubMed Link: 36351924
Variant Present in the following documents:
  • 41467_2022_34408_MOESM10_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: N/A
PubMed Link: 36333792
Variant Present in the following documents:
View BVdb publication page



Prognostic biomarkers correlated with immune infiltration in non-small cell lung cancer.

Febs Open Bio
Xu, Fei F; Cui, Wen-Qiang WQ; Liu, Cun C; Feng, Fubin F; Liu, Ruijuan R; Zhang, Jingtao J; Sun, Chang-Gang CG
Publication Date: 2022-10-25

Variant appearance in text: CREBBP: R1446C
PubMed Link: 36282125
Variant Present in the following documents:
  • Main text
  • FEB4-13-72.pdf
View BVdb publication page



Intravascular Large B-Cell Lymphoma Genomic Profile Is Characterized by Alterations in Genes Regulating NF-κB and Immune Checkpoints.

The American Journal Of Surgical Pathology
Gonzalez-Farre, Blanca B; Ramis-Zaldivar, Joan E JE; Castrejón de Anta, Natalia N; Rivas-Delgado, Alfredo A; Nadeu, Ferran F; Salmeron-Villalobos, Julia J; Enjuanes, Anna A; Karube, Kennosuke K; Balagué, Olga O; Cobo, Francesc F; Kelleher, Nicholas N; Victoria, Ingrid I; Veloza, Luis L; Teixido, Cristina C; Giné, Eva E; Lopez-Guerra, Mónica M; Quintanilla-Martinez, Leticia L; Lopez-Guillermo, Armando A; Salaverria, Itziar I; Campo, Elias E
Publication Date: 2022-10-12

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys; rs398124146
PubMed Link: 36221796
Variant Present in the following documents:
  • pas-47-202-s007.xlsx, sheet 1
View BVdb publication page



GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood
Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD
Publication Date: 2022-10-06

Variant appearance in text: CREBBP: R1446C; rs398124146
PubMed Link: 36201743
Variant Present in the following documents:
  • BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6
View BVdb publication page



Diagnostic value of genetic mutation analysis and mutation profiling of cell-free DNA in intraocular fluid for vitreoretinal lymphoma.

Cancer Communications (London, England)
Chen, Xiaoqing X; Hu, Yunwei Y; Su, Wenru W; Yang, Shizhao S; Wang, Xiaoxiao X; Zhang, Ping P; Hong, Xiaoyu X; Liang, Chuqiao C; Qian, Zhuyun Z; Li, Ziqiang Z; Tao, Yong Y; Huang, Huiqiang H; Liang, Dan D
Publication Date: 2022-11

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35920016
Variant Present in the following documents:
  • CAC2-42-1217-s001.xlsx, sheet 6
View BVdb publication page



Genetic landscapes and curative effect of CAR T-cell immunotherapy in relapse and refractory DLBCL patients.

Blood Advances
Shi, Hui H; Zheng, Peihao P; Liu, Rui R; Xu, Teng T; Yang, Fan F; Feng, Shaomei S; Guo, Yuelu Y; Ma, Lixia L; Liu, Haidi H; Lei, Yang Y; Li, Ruiting R; Deng, Biping B; Hou, Shuling S; Li, Yang Y; Zheng, Qinlong Q; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2022-07-28

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35901280
Variant Present in the following documents:
  • BLOODA_ADV-2021-006845-mmc1.xlsx, sheet 2
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: 4336C>T; Arg1446Cys
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: 4336C>T; R1446C; rs398124146
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: CREBBP: R1446C
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.

Cancer Medicine
Gan, Meifu M; Zhang, Chen C; Qiu, Liqing L; Wang, Yue Y; Bao, Hua H; Yu, Ruoying R; Liu, Rui R; Wu, Xue X; Shao, Yang Y; Hou, Peifeng P; Fei, Zhenglei Z
Publication Date: 2022-11

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35586877
Variant Present in the following documents:
  • CAM4-11-4070-s004.xlsx, sheet 1
View BVdb publication page



Feasibility and clinical utility of comprehensive genomic profiling of hematological malignancies.

Cancer Science
Fukuhara, Suguru S; Oshikawa-Kumade, Yuji Y; Kogure, Yasunori Y; Shingaki, Sumito S; Kariyazono, Hirokazu H; Kikukawa, Yoshiya Y; Koya, Junji J; Saito, Yuki Y; Tabata, Mariko M; Yoshifuji, Kota K; Mizuno, Kota K; Miyagi-Maeshima, Akiko A; Matsushita, Hiromichi H; Sugiyama, Masanaka M; Ogawa, Chitose C; Inamoto, Yoshihiro Y; Fukuda, Takahiro T; Sugano, Masato M; Yamauchi, Nobuhiko N; Minami, Yosuke Y; Hirata, Makoto M; Yoshida, Teruhiko T; Kohno, Takashi T; Kohsaka, Shinji S; Mano, Hiroyuki H; Shiraishi, Yuichi Y; Ogawa, Seishi S; Izutsu, Koji K; Kataoka, Keisuke K
Publication Date: 2022-08

Variant appearance in text: CREBBP: R1446C
PubMed Link: 35579198
Variant Present in the following documents:
  • CAS-113-2763-s003.xlsx, sheet 10
View BVdb publication page



The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Cancer Research Communications
Magistri, Marco M; Happ, Lanie E LE; Ramdial, Jeremy J; Lu, XiaoQing X; Stathias, Vasileios V; Kunkalla, Kranthi K; Agarwal, Nitin N; Jiang, Xiaoyu X; Schürer, Stephan C SC; Dubovy, Sander R SR; Chapman, Jennifer R JR; Vega, Francisco F; Dave, Sandeep S; Lossos, Izidore S IS
Publication Date: 2021-10

Variant appearance in text: CREBBP: R1446C
PubMed Link: 35528192
Variant Present in the following documents:
  • crc-21-0022-s03.xlsx, sheet 1
View BVdb publication page



Paclitaxel and cisplatin with or without cetuximab in metastatic esophageal squamous cell carcinoma: a randomized, multicenter phase II trial.

Innovation (Cambridge (Mass.))
Lu, Zhihao Z; Zhang, Yanqiao Y; Fan, Qingxia Q; Pan, Yueyin Y; Jiang, Da D; Lu, Ping P; Zhang, Jingdong J; Yuan, Xianglin X; Feng, Jifeng J; Yang, Shujun S; Yue, Wenbin W; Zhao, Lin L; Xu, Yunhua Y; Luo, Jinhua J; Shen, Lin L
Publication Date: 2022-05-10

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35509869
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



An alternative CYB5A transcript is expressed in aneuploid ALL and enriched in relapse.

Bmc Genomic Data
Bartsch, Lorenz L; Schroeder, Michael P MP; Hänzelmann, Sonja S; Bastian, Lorenz L; Lázaro-Navarro, Juan J; Schlee, Cornelia C; Tanchez, Jutta Ortiz JO; Schulze, Veronika V; Isaakidis, Konstandina K; Rieger, Michael A MA; Gökbuget, Nicola N; Eckert, Cornelia C; Serve, Hubert H; Horstmann, Martin M; Schrappe, Martin M; Brüggemann, Monika M; Baldus, Claudia D CD; Neumann, Martin M
Publication Date: 2022-04-18

Variant appearance in text: CREBBP: R1446C; rs398124146
PubMed Link: 35436854
Variant Present in the following documents:
  • 12863_2022_1041_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



PIM1 genetic alterations associated with distinct molecular profiles, phenotypes and drug responses in diffuse large B-cell lymphoma.

Clinical And Translational Medicine
Zhang, Huilai H; Lu, Yaxiao Y; Zhang, Tingting T; Guan, Qingpei Q; Wang, Xiaoxuan X; Guo, Yixian Y; Li, Lanfang L; Qiu, Lihua L; Qian, Zhengzi Z; Zhou, Shiyong S; Gong, Wenchen W; Meng, Bin B; Ren, Xiubao X; Wang, Xianhuo X
Publication Date: 2022-04

Variant appearance in text: CREBBP: R1446C
PubMed Link: 35415904
Variant Present in the following documents:
  • CTM2-12-e808-s003.xlsx, sheet 2
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: R1446C
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Prognostic Value of Postoperative Circulating Tumor DNA in Patients With Early- and Intermediate-Stage Hepatocellular Carcinoma.

Frontiers In Oncology
Ye, Ke K; Fan, Qinqiao Q; Yuan, Mingming M; Wang, Dong D; Xiao, Liang L; Long, Guo G; Chen, Rongrong R; Fang, Tongdi T; Li, Zengbo Z; Zhou, Ledu L
Publication Date: 2022

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35311090
Variant Present in the following documents:
  • Table_1.xlsx, sheet 3
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Response prediction in patients with gastric and esophagogastric adenocarcinoma under neoadjuvant chemotherapy using targeted gene expression analysis and next-generation sequencing in pre-therapeutic biopsies.

Journal Of Cancer Research And Clinical Oncology
Kleo, Karsten K; Jovanovic, Vladimir M VM; Arndold, Alexander A; Lehmann, Annika A; Lammert, Hedwig H; Berg, Erika E; Harloff, Hannah H; Treese, Christoph C; Hummel, Michael M; Daum, Severin S
Publication Date: 2022-03-05

Variant appearance in text: CREBBP: 4336C>T; rs398124146
PubMed Link: 35246724
Variant Present in the following documents:
  • 432_2022_3944_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: CREBBP: R1446C
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S7.xlsx, sheet 5
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



A pilot study of the use of dynamic analysis of cell-free DNA from aqueous humor and vitreous fluid for the diagnosis and treatment monitoring of vitreoretinal lymphomas.

Haematologica
Wang, Xiaoxiao X; Su, Wenru W; Gao, Yan Y; Feng, Yanfen Y; Wang, Xiaoxia X; Chen, Xiaoqing X; Hu, Yunwei Y; Ma, Yutong Y; Ou, Qiuxiang Q; Liang, Dan D; Huang, Huiqiang H
Publication Date: 2022-09-01

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 35142151
Variant Present in the following documents:
  • 2021_279908_WANG_TABS3.xlsx, sheet 1
View BVdb publication page



Genetic Landscape of Relapsed and Refractory Diffuse Large B-Cell Lymphoma: A Systemic Review and Association Analysis With Next-Generation Sequencing.

Frontiers In Genetics
Gao, Fan F; Tian, Lei L; Shi, Hui H; Zheng, Peihao P; Wang, Jing J; Dong, Fei F; Hu, Kai K; Ke, Xiaoyan X
Publication Date: 2021

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 34925435
Variant Present in the following documents:
  • DataSheet2.xlsx, sheet 1
View BVdb publication page



Rearrangement-mediated cis-regulatory alterations in advanced patient tumors reveal interactions with therapy.

Cell Reports
Zhang, Yiqun Y; Chen, Fengju F; Pleasance, Erin E; Williamson, Laura L; Grisdale, Cameron J CJ; Titmuss, Emma E; Laskin, Janessa J; Jones, Steven J M SJM; Cortes-Ciriano, Isidro I; Marra, Marco A MA; Creighton, Chad J CJ
Publication Date: 2021-11-16

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys
PubMed Link: 34788622
Variant Present in the following documents:
  • NIHMS1757901-supplement-2.xlsx, sheet 3
View BVdb publication page



Low neoantigen expression and poor T-cell priming underlie early immune escape in colorectal cancer.

Nature Cancer
Westcott, Peter M K PMK; Sacks, Nathan J NJ; Schenkel, Jason M JM; Ely, Zackery A ZA; Smith, Olivia O; Hauck, Haley H; Jaeger, Alex M AM; Zhang, Daniel D; Backlund, Coralie M CM; Beytagh, Mary C MC; Patten, J J JJ; Elbashir, Ryan R; Eng, George G; Irvine, Darrell J DJ; Yilmaz, Omer H OH; Jacks, Tyler T
Publication Date: 2021-10

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys
PubMed Link: 34738089
Variant Present in the following documents:
  • NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1
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: R1446C
PubMed Link: 34732714
Variant Present in the following documents:
  • 41467_2021_26570_MOESM1_ESM.pdf
View BVdb publication page



Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology
Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C
Publication Date: 2021

Variant appearance in text: CREBBP: R1446C
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Multi-region exome sequencing reveals the intratumoral heterogeneity of surgically resected small cell lung cancer.

Nature Communications
Zhou, Huaqiang H; Hu, Yi Y; Luo, Rongzhen R; Zhao, Yuanyuan Y; Pan, Hui H; Ji, Liyan L; Zhou, Ting T; Zhang, Lanjun L; Long, Hao H; Fu, Jianhua J; Wen, Zhesheng Z; Wang, Siyu S; Wang, Xin X; Lin, Peng P; Yang, Haoxian H; Wang, Junye J; Song, Mengmeng M; Yi, Xin X; Yang, Ling L; Xia, Xuefang X; Guan, Yanfang Y; Fang, Wenfeng W; Yang, Yunpeng Y; Hong, Shaodong S; Huang, Yan Y; Li, Pansong P; Zhang, Yaxiong Y; Zhou, Ningning N
Publication Date: 2021-09-14

Variant appearance in text: CREBBP: 4336C>T; R1446C; rs398124146
PubMed Link: 34521849
Variant Present in the following documents:
  • 41467_2021_25787_MOESM4_ESM.xlsx, sheet 1
  • 41467_2021_25787_MOESM10_ESM.xlsx, sheet 7
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One
Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH
Publication Date: 2021

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys
PubMed Link: 34478472
Variant Present in the following documents:
  • pone.0256979.s002.xlsx, sheet 1
View BVdb publication page



Profiling of 520 Candidate Genes in 50 Surgically Treated Chinese Small Cell Lung Cancer Patients.

Frontiers In Oncology
Yuan, Ting T; Wang, Xin X; Sun, Sijin S; Cao, Zheng Z; Feng, Xiaoli X; Gao, Yibo Y
Publication Date: 2021

Variant appearance in text: CREBBP: 4336C>T; R1446C; rs398124146
PubMed Link: 34168983
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 3
View BVdb publication page



Improvement of Neoantigen Identification Through Convolution Neural Network.

Frontiers In Immunology
Hao, Qing Q; Wei, Ping P; Shu, Yang Y; Zhang, Yi-Guan YG; Xu, Heng H; Zhao, Jun-Ning JN
Publication Date: 2021

Variant appearance in text: CREBBP: R1446C
PubMed Link: 34113354
Variant Present in the following documents:
  • Table_1.xlsx, sheet 26
  • Table_1.xlsx, sheet 18
  • Table_1.xlsx, sheet 6
  • Table_1.xlsx, sheet 4
  • Table_1.xlsx, sheet 2
View BVdb publication page



Deep Genomic Sequencing of Bladder Urothelial Carcinoma in Southern Chinese Patients: A Single-Center Study.

Frontiers In Oncology
Li, Dong-Yang DY; Yang, Fei F; Liao, Wei-Qiang WQ; Zhou, Xiang-Fu XF; Li, Wen-Biao WB; Cai, Jia-Rong JR; Liu, Bo-Long BL; Luo, Yun Y; Zhan, Hai-Lun HL
Publication Date: 2021

Variant appearance in text: CREBBP: 4336C>T
PubMed Link: 34055593
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
  • Table_2.xlsx, sheet 1
View BVdb publication page



Somatic mutations in lymphocytes in patients with immune-mediated aplastic anemia.

Leukemia
Lundgren, Sofie S; Keränen, Mikko A I MAI; Kankainen, Matti M; Huuhtanen, Jani J; Walldin, Gunilla G; Kerr, Cassandra M CM; Clemente, Michael M; Ebeling, Freja F; Rajala, Hanna H; Brück, Oscar O; Lähdesmäki, Harri H; Hannula, Sari S; Hannunen, Tiina T; Ellonen, Pekka P; Young, Neal S NS; Ogawa, Seishi S; Maciejewski, Jaroslaw P JP; Hellström-Lindberg, Eva E; Mustjoki, Satu S
Publication Date: 2021-05

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33785863
Variant Present in the following documents:
  • 41375_2021_1231_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



easyCLIP analysis of RNA-protein interactions incorporating absolute quantification.

Nature Communications
Porter, Douglas F DF; Miao, Weili W; Yang, Xue X; Goda, Grant A GA; Ji, Andrew L AL; Donohue, Laura K H LKH; Aleman, Maria M MM; Dominguez, Daniel D; Khavari, Paul A PA
Publication Date: 2021-03-10

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33692367
Variant Present in the following documents:
  • 41467_2021_21623_MOESM1_ESM.pdf
View BVdb publication page



The acquisition of molecular drivers in pediatric therapy-related myeloid neoplasms.

Nature Communications
Schwartz, Jason R JR; Ma, Jing J; Kamens, Jennifer J; Westover, Tamara T; Walsh, Michael P MP; Brady, Samuel W SW; Robert Michael, J J; Chen, Xiaolong X; Montefiori, Lindsey L; Song, Guangchun G; Wu, Gang G; Wu, Huiyun H; Branstetter, Cristyn C; Hiltenbrand, Ryan R; Walsh, Michael F MF; Nichols, Kim E KE; Maciaszek, Jamie L JL; Liu, Yanling Y; Kumar, Priyadarshini P; Easton, John J; Newman, Scott S; Rubnitz, Jeffrey E JE; Mullighan, Charles G CG; Pounds, Stanley S; Zhang, Jinghui J; Gruber, Tanja T; Ma, Xiaotu X; Klco, Jeffery M JM
Publication Date: 2021-02-12

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33579957
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_21255.pdf
  • 41467_2021_21255_MOESM15_ESM.xlsx, sheet 1
View BVdb publication page



Correlation of mutational landscape and survival outcome of peripheral T-cell lymphomas.

Experimental Hematology & Oncology
Ye, Yingying Y; Ding, Ning N; Mi, Lan L; Shi, Yunfei Y; Liu, Weiping W; Song, Yuqin Y; Shu, Shaokun S; Zhu, Jun J
Publication Date: 2021-02-05

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 33546774
Variant Present in the following documents:
  • 40164_2021_200_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



3D Functional Genomics Screens Identify CREBBP as a Targetable Driver in Aggressive Triple-Negative Breast Cancer.

Cancer Research
Peck, Barrie B; Bland, Philip P; Mavrommati, Ioanna I; Muirhead, Gareth G; Cottom, Hannah H; Wai, Patty T PT; Maguire, Sarah L SL; Barker, Holly E HE; Morrison, Eamonn E; Kriplani, Divya D; Yu, Lu L; Gibson, Amy A; Falgari, Giulia G; Brennan, Keith K; Farnie, Gillian G; Buus, Richard R; Marlow, Rebecca R; Novo, Daniela D; Knight, Eleanor E; Guppy, Naomi N; Kolarevic, Daniela D; Susnjar, Snezana S; Milijic, Natasa Medic NM; Naidoo, Kalnisha K; Gazinska, Patrycja P; Roxanis, Ioannis I; Pancholi, Sunil S; Martin, Lesley-Ann LA; Holgersen, Erle M EM; Cheang, Maggie C U MCU; Noor, Farzana F; Postel-Vinay, Sophie S; Quinn, Gerard G; McDade, Simon S; Krasny, Lukas L; Huang, Paul P; Daley, Frances F; Wallberg, Fredrik F; Choudhary, Jyoti S JS; Haider, Syed S; Tutt, Andrew N AN; Natrajan, Rachael R
Publication Date: 2021-02-15

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33509944
Variant Present in the following documents:
  • Main text
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: R1446C
PubMed Link: 33479306
Variant Present in the following documents:
  • 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Baseline SUVmax is related to tumor cell proliferation and patient outcome in follicular lymphoma.

Haematologica
Rossi, Cédric C; Tosolini, Marie M; Gravelle, Pauline P; Pericart, Sarah S; Kanoun, Salim S; Evrard, Solene S; Gilhodes, Julia J; Franchini, Don-Marc DM; Amara, Nadia N; Syrykh, Charlotte C; Bories, Pierre P; Oberic, Lucie L; Ysebaert, Loïc L; Martin, Laurent L; Ramla, Selim S; Robert, Philippine P; Tabouret-Viaud, Claire C; Casasnovas, René-Olivier RO; Fournié, Jean-Jacques JJ; Bezombes, Christine C; Laurent, Camille C
Publication Date: 2022-01-01

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys
PubMed Link: 33327711
Variant Present in the following documents:
  • 2020_263194_ROSSI_TAB3_SUPPL.xls, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Harnessing lymphoma epigenetics to improve therapies.

Hematology. American Society Of Hematology. Education Program
Yang, Haopeng H; Green, Michael R MR
Publication Date: 2020-12-04

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33275741
Variant Present in the following documents:
  • Main text
View BVdb publication page



STAT3 and TP53 mutations associate with poor prognosis in anaplastic large cell lymphoma.

Leukemia
Lobello, Cosimo C; Tichy, Boris B; Bystry, Vojtech V; Radova, Lenka L; Filip, Daniel D; Mraz, Marek M; Montes-Mojarro, Ivonne-Aidee IA; Prokoph, Nina N; Larose, Hugo H; Liang, Huan-Chang HC; Sharma, Geeta G GG; Mologni, Luca L; Belada, David D; Kamaradova, Katerina K; Fend, Falko F; Gambacorti-Passerini, Carlo C; Merkel, Olaf O; Turner, Suzanne D SD; Janikova, Andrea A; Pospisilova, Sarka S
Publication Date: 2021-05

Variant appearance in text: CREBBP: 4336C>T; R1446C; rs398124146
PubMed Link: 33247178
Variant Present in the following documents:
  • 41375_2020_1093_MOESM4_ESM.xlsx, sheet 1
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: 4336C>T; R1446C
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Comprehensive Genomic Profile of Heterogeneous Long Follow-Up Triple-Negative Breast Cancer and Its Clinical Characteristics Shows DNA Repair Deficiency Has Better Prognostic.

Genes
Rojas-Jiménez, Ernesto E; Mejía-Gómez, Javier César JC; Díaz-Velásquez, Clara C; Quezada-Urban, Rosalía R; Martínez Gregorio, Héctor H; Vallejo-Lecuona, Fernando F; de la Cruz-Montoya, Aldo A; Porras Reyes, Fany Iris FI; Pérez-Sánchez, Víctor Manuel VM; Maldonado-Martínez, Héctor Aquiles HA; Robles-Estrada, Maybelline M; Bargalló-Rocha, Enrique E; Cabrera-Galeana, Paula P; Ramos-Ramírez, Maritza M; Chirino, Yolanda Irasema YI; Alonso Herrera, Luis L; Terrazas, Luis Ignacio LI; Oliver, Javier J; Frecha, Cecilia C; Perdomo, Sandra S; Vaca-Paniagua, Felipe F
Publication Date: 2020-11-19

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33227964
Variant Present in the following documents:
  • genes-11-01367-s001.pdf
View BVdb publication page



Harnessing lymphoma epigenetics to improve therapies.

Blood
Yang, Haopeng H; Green, Michael R MR
Publication Date: 2020-11-18

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33206943
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical and mutational profiles of adult medulloblastoma groups.

Acta Neuropathologica Communications
Wong, Gabriel Chun-Hei GC; Li, Kay Ka-Wai KK; Wang, Wei-Wei WW; Liu, Anthony Pak-Yin AP; Huang, Queenie Junqi QJ; Chan, Aden Ka-Yin AK; Poon, Manix Fung-Man MF; Chung, Nellie Yuk-Fei NY; Wong, Queenie Hoi-Wing QH; Chen, Hong H; Chan, Danny Tat Ming DTM; Liu, Xian-Zhi XZ; Mao, Ying Y; Zhang, Zhen-Yu ZY; Shi, Zhi-Feng ZF; Ng, Ho-Keung HK
Publication Date: 2020-11-10

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33172502
Variant Present in the following documents:
  • 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4
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: R1446C
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: R1446C
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



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_6.xlsx, sheet 7
  • Table_1.xlsx, sheet 2
  • Table_6.xlsx, sheet 2
View BVdb publication page



Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Publication Date: 2020-10

Variant appearance in text: CREBBP: R1446C
PubMed Link: 33057201
Variant Present in the following documents:
  • NIHMS1609346-supplement-1609346_SuppTables.xlsx, sheet 4
View BVdb publication page



Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports
Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O
Publication Date: 2020-10-13

Variant appearance in text: rs398124146
PubMed Link: 33051506
Variant Present in the following documents:
  • 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

Journal Of Personalized Medicine
Montaño, Adrián A; Hernández-Sánchez, Jesús J; Forero-Castro, Maribel M; Matorra-Miguel, María M; Lumbreras, Eva E; Miguel, Cristina C; Santos, Sandra S; Ramírez-Maldonado, Valentina V; Fuster, José Luís JL; de Las Heras, Natalia N; García-de Coca, Alfonso A; Sierra, Magdalena M; Dávila, Julio J; de la Fuente, Ignacio I; Olivier, Carmen C; Olazabal, Juan J; Martínez, Joaquín J; Vega-García, Nerea N; González, Teresa T; Hernández-Rivas, Jesús María JM; Benito, Rocío R
Publication Date: 2020-09-21

Variant appearance in text: CREBBP: R1446C; rs398124146
PubMed Link: 32967112
Variant Present in the following documents:
  • jpm-10-00137-s001.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Mutational landscape and patterns of clonal evolution in relapsed pediatric acute lymphoblastic leukemia.

Blood Cancer Discovery
Waanders, Esmé E; Gu, Zhaohui Z; Dobson, Stephanie M SM; Antić, Željko Ž; Crawford, Jeremy Chase JC; Ma, Xiaotu X; Edmonson, Michael N MN; Payne-Turner, Debbie D; van der Vorst, Maartje M; Jongmans, Marjolijn C J MCJ; McGuire, Irina I; Zhou, Xin X; Wang, Jian J; Shi, Lei L; Pounds, Stanley S; Pei, Deqing D; Cheng, Cheng C; Song, Guangchun G; Fan, Yiping Y; Shao, Ying Y; Rusch, Michael M; McCastlain, Kelly K; Yu, Jiangyan J; van Boxtel, Ruben R; Blokzijl, Francis F; Iacobucci, Ilaria I; Roberts, Kathryn G KG; Wen, Ji J; Wu, Gang G; Ma, Jing J; Easton, John J; Neale, Geoffrey G; Olsen, Scott R SR; Nichols, Kim E KE; Pui, Ching-Hon CH; Zhang, Jinghui J; Evans, William E WE; Relling, Mary V MV; Yang, Jun J JJ; Thomas, Paul G PG; Dick, John E JE; Kuiper, Roland P RP; Mullighan, Charles G CG
Publication Date: 2020-07

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32793890
Variant Present in the following documents:
  • Main text
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 4
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Novel bioinformatic classification system for genetic signatures identification in diffuse large B-cell lymphoma.

Bmc Cancer
Zhang, Wei W; Yang, Li L; Guan, Yu' Qi YQ; Shen, Ke' Feng KF; Zhang, Mei' Lan ML; Cai, Hao' Dong HD; Wang, Jia' Chen JC; Wang, Ying Y; Huang, Liang L; Cao, Yang Y; Wang, Na N; Tan, Xiao' Hong XH; Young, Ken He KH; Xiao, Min M; Zhou, Jian' Feng JF
Publication Date: 2020-07-31

Variant appearance in text: CREBBP: 4336C>T; Arg1446Cys
PubMed Link: 32736575
Variant Present in the following documents:
  • 12885_2020_7198_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging
Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D
Publication Date: 2020-07-07

Variant appearance in text: CREBBP: 4336C>T
PubMed Link: 32639949
Variant Present in the following documents:
  • aging-12-103115-s013..xlsx, sheet 1
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



CEOP/IVE/GDP alternating regimen compared with CEOP as the first-line therapy for newly diagnosed patients with peripheral T cell lymphoma: results from a phase 2, multicenter, randomized, controlled clinical trial.

Genome Medicine
Cai, Ming-Ci MC; Cheng, Shu S; Wang, Xin X; Hu, Jian-Da JD; Song, Yong-Ping YP; Huang, Yao-Hui YH; Yan, Zi-Xun ZX; Jiang, Yu-Jie YJ; Fang, Xiao-Sheng XS; Zheng, Xiao-Yun XY; Dong, Li-Hua LH; Ji, Meng-Meng MM; Wang, Li L; Xu, Peng-Peng PP; Zhao, Wei-Li WL
Publication Date: 2020-04-30

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32349779
Variant Present in the following documents:
  • 13073_2020_739_MOESM1_ESM.pdf
View BVdb publication page



Modeling biological and genetic diversity in upper tract urothelial carcinoma with patient derived xenografts.

Nature Communications
Kim, Kwanghee K; Hu, Wenhuo W; Audenet, François F; Almassi, Nima N; Hanrahan, Aphrothiti J AJ; Murray, Katie K; Bagrodia, Aditya A; Wong, Nathan N; Clinton, Timothy N TN; Dason, Shawn S; Mohan, Vishnu V; Jebiwott, Sylvia S; Nagar, Karan K; Gao, Jianjiong J; Penson, Alex A; Hughes, Chris C; Gordon, Benjamin B; Chen, Ziyu Z; Dong, Yiyu Y; Watson, Philip A PA; Alvim, Ricardo R; Elzein, Arijh A; Gao, Sizhi P SP; Cocco, Emiliano E; Santin, Alessandro D AD; Ostrovnaya, Irina I; Hsieh, James J JJ; Sagi, Irit I; Pietzak, Eugene J EJ; Hakimi, A Ari AA; Rosenberg, Jonathan E JE; Iyer, Gopa G; Vargas, Herbert A HA; Scaltriti, Maurizio M; Al-Ahmadie, Hikmat H; Solit, David B DB; Coleman, Jonathan A JA
Publication Date: 2020-04-24

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 32332851
Variant Present in the following documents:
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 5
  • 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page



Genetic heterogeneity highlighted by differential FDG-PET response in diffuse large B-cell lymphoma.

Haematologica
Araf, Shamzah S; Korfi, Koorosh K; Bewicke-Copley, Findlay F; Wang, Jun J; Cogliatti, Sergio S; Kumar, Emil E; Forrer, Flavio F; Barrington, Sally F SF; Graham, Trevor A TA; Scott, David W DW; Rimsza, Lisa M LM; Davies, Andrew A; Johnson, Peter P; Okosun, Jessica J; Fitzgibbon, Jude J; Fehr, Martin M
Publication Date: 2020-06

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32273479
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: CREBBP: R1446C
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature
Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, Iñigo I; Janes, Sam M SM; Campbell, Peter J PJ
Publication Date: 2020-02

Variant appearance in text: CREBBP: R1446C
PubMed Link: 31996850
Variant Present in the following documents:
  • EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: CREBBP: 4336C>T; R1446C
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Selective Inhibition of HDAC3 Targets Synthetic Vulnerabilities and Activates Immune Surveillance in Lymphoma.

Cancer Discovery
Mondello, Patrizia P; Tadros, Saber S; Teater, Matt M; Fontan, Lorena L; Chang, Aaron Y AY; Jain, Neeraj N; Yang, Haopeng H; Singh, Shailbala S; Ying, Hsia-Yuan HY; Chu, Chi-Shuen CS; Ma, Man Chun John MCJ; Toska, Eneda E; Alig, Stefan S; Durant, Matthew M; de Stanchina, Elisa E; Ghosh, Sreejoyee S; Mottok, Anja A; Nastoupil, Loretta L; Neelapu, Sattva S SS; Weigert, Oliver O; Inghirami, Giorgio G; Baselga, José J; Younes, Anas A; Yee, Cassian C; Dogan, Ahmet A; Scheinberg, David A DA; Roeder, Robert G RG; Melnick, Ari M AM; Green, Michael R MR
Publication Date: 2020-03

Variant appearance in text: CREBBP: R1446C
PubMed Link: 31915197
Variant Present in the following documents:
  • Main text
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: R1446C
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: CREBBP: R1446C
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page