CREBBP c.1447C>T ;(p.R483*)

Variant ID: 16-3832811-G-A

NM_004380.2(CREBBP):c.1447C>T;(p.R483*)

This variant was identified in 14 publications

View GRCh38 version.




Publications:


Integrated molecular and pharmacological characterization of patient-derived xenografts from bladder and ureteral cancers identifies new potential therapies.

Frontiers In Oncology
Lang, Hervé H; Béraud, Claire C; Cabel, Luc L; Fontugne, Jacqueline J; Lassalle, Myriam M; Krucker, Clémentine C; Dufour, Florent F; Groeneveld, Clarice S CS; Dixon, Victoria V; Meng, Xiangyu X; Kamoun, Aurélie A; Chapeaublanc, Elodie E; De Reynies, Aurélien A; Gamé, Xavier X; Rischmann, Pascal P; Bieche, Ivan I; Masliah-Planchon, Julien J; Beaurepere, Romane R; Allory, Yves Y; Lindner, Véronique V; Misseri, Yolande Y; Radvanyi, François F; Lluel, Philippe P; Bernard-Pierrot, Isabelle I; Massfelder, Thierry T
Publication Date: 2022

Variant appearance in text: CREBBP: 1447C>T; Arg483Ter
PubMed Link: 36033544
Variant Present in the following documents:
  • Table_4.xlsx, sheet 1
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: 1447C>T; R483*
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
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: R483*
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Association of clonal hematopoiesis with chronic obstructive pulmonary disease.

Blood
Miller, Peter G PG; Qiao, Dandi D; Rojas-Quintero, Joselyn J; Honigberg, Michael C MC; Sperling, Adam S AS; Gibson, Christopher J CJ; Bick, Alexander G AG; Niroula, Abhishek A; McConkey, Marie E ME; Sandoval, Brittany B; Miller, Brian C BC; Shi, Weiwei W; Viswanathan, Kaushik K; Leventhal, Matthew M; Werner, Lillian L; Moll, Matthew M; Cade, Brian E BE; Barr, R Graham RG; Correa, Adolfo A; Cupples, L Adrienne LA; Gharib, Sina A SA; Jain, Deepti D; Gogarten, Stephanie M SM; Lange, Leslie A LA; London, Stephanie J SJ; Manichaikul, Ani A; O'Connor, George T GT; Oelsner, Elizabeth C EC; Redline, Susan S; Rich, Stephen S SS; Rotter, Jerome I JI; Ramachandran, Vasan V; Yu, Bing B; Sholl, Lynette L; Neuberg, Donna D; Jaiswal, Siddhartha S; Levy, Bruce D BD; Owen, Caroline A CA; Natarajan, Pradeep P; Silverman, Edwin K EK; van Galen, Peter P; Tesfaigzi, Yohannes Y; Cho, Michael H MH; Ebert, Benjamin L BL; ,
Publication Date: 2022-01-20

Variant appearance in text: CREBBP: R483*
PubMed Link: 34855941
Variant Present in the following documents:
  • bloodBLD2021013531-suppl1.pdf
  • 10.1182-2021013531_bloodbld2021013531-suppl1.pdf
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: CREBBP: R483X
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



Identification of new putative driver mutations and predictors of disease evolution in chronic lymphocytic leukemia.

Blood Cancer Journal
Mosquera Orgueira, Adrián A; Antelo Rodríguez, Beatriz B; Díaz Arias, José Ángel JÁ; Bello López, José Luis JL
Publication Date: 2019-09-30

Variant appearance in text: CREBBP: 1447C>T; R483*
PubMed Link: 31570692
Variant Present in the following documents:
  • 41408_2019_243_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



New insights into genetic variant spectrum and genotype-phenotype correlations of Rubinstein-Taybi syndrome in 39 CREBBP-positive patients.

Molecular Genetics & Genomic Medicine
Pérez-Grijalba, Virginia V; García-Oguiza, Alberto A; López, María M; Armstrong, Judith J; García-Miñaur, Sixto S; Mesa-Latorre, Jose María JM; O'Callaghan, Mar M; Pineda Marfa, Mercé M; Ramos-Arroyo, Maria Antonia MA; Santos-Simarro, Fernando F; Seidel, Verónica V; Domínguez-Garrido, Elena E
Publication Date: 2019-11

Variant appearance in text: CREBBP: 1447C>T
PubMed Link: 31566936
Variant Present in the following documents:
  • Main text
  • MGG3-7-e972.pdf
View BVdb publication page



A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.

Genome Medicine
Cao, Ye Y; Tokita, Mari J MJ; Chen, Edward S ES; Ghosh, Rajarshi R; Chen, Tiansheng T; Feng, Yanming Y; Gorman, Elizabeth E; Gibellini, Federica F; Ward, Patricia A PA; Braxton, Alicia A; Wang, Xia X; Meng, Linyan L; Xiao, Rui R; Bi, Weimin W; Xia, Fan F; Eng, Christine M CM; Yang, Yaping Y; Gambin, Tomasz T; Shaw, Chad C; Liu, Pengfei P; Stankiewicz, Pawel P
Publication Date: 2019-07-26

Variant appearance in text: CREBBP: 1447C>T; R483*
PubMed Link: 31349857
Variant Present in the following documents:
  • Main text
  • 13073_2019_Article_658.pdf
  • 13073_2019_658_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Accurate diagnosis of mismatch repair deficiency in colorectal cancer using high-quality DNA samples from cultured stem cells.

Oncotarget
Yamaura, Tadayoshi T; Miyoshi, Hiroyuki H; Maekawa, Hisatsugu H; Morimoto, Tomonori T; Yamamoto, Takehito T; Kakizaki, Fumihiko F; Higasa, Koichiro K; Kawada, Kenji K; Matsuda, Fumihiko F; Sakai, Yoshiharu Y; Taketo, M Mark MM
Publication Date: 2018-12-25

Variant appearance in text: CREBBP: R483X
PubMed Link: 30680068
Variant Present in the following documents:
  • oncotarget-09-37534-s002.xlsx, sheet 1
View BVdb publication page



Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer
Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA
Publication Date: 2018

Variant appearance in text: CREBBP: 1447C>T; R483*
PubMed Link: 30588243
Variant Present in the following documents:
  • jcav09p4596s2.xlsx, sheet 1
View BVdb publication page



Clinical cancer genomic profiling by three-platform sequencing of whole genome, whole exome and transcriptome.

Nature Communications
Rusch, Michael M; Nakitandwe, Joy J; Shurtleff, Sheila S; Newman, Scott S; Zhang, Zhaojie Z; Edmonson, Michael N MN; Parker, Matthew M; Jiao, Yuannian Y; Ma, Xiaotu X; Liu, Yanling Y; Gu, Jiali J; Walsh, Michael F MF; Becksfort, Jared J; Thrasher, Andrew A; Li, Yongjin Y; McMurry, James J; Hedlund, Erin E; Patel, Aman A; Easton, John J; Yergeau, Donald D; Vadodaria, Bhavin B; Tatevossian, Ruth G RG; Raimondi, Susana S; Hedges, Dale D; Chen, Xiang X; Hagiwara, Kohei K; McGee, Rose R; Robinson, Giles W GW; Klco, Jeffery M JM; Gruber, Tanja A TA; Ellison, David W DW; Downing, James R JR; Zhang, Jinghui J
Publication Date: 2018-09-27

Variant appearance in text: CREBBP: R483*
PubMed Link: 30262806
Variant Present in the following documents:
  • 41467_2018_6485_MOESM5_ESM.xlsx, sheet 1
  • 41467_2018_6485_MOESM10_ESM.xlsx, sheet 2
  • 41467_2018_6485_MOESM10_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: R483X
PubMed Link: 28726821
Variant Present in the following documents:
  • 41586_2017_BFnature22973_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Integrated genomic analyses of de novo pathways underlying atypical meningiomas.

Nature Communications
Harmancı, Akdes Serin AS; Youngblood, Mark W MW; Clark, Victoria E VE; Coşkun, Süleyman S; Henegariu, Octavian O; Duran, Daniel D; Erson-Omay, E Zeynep EZ; Kaulen, Leon D LD; Lee, Tong Ihn TI; Abraham, Brian J BJ; Simon, Matthias M; Krischek, Boris B; Timmer, Marco M; Goldbrunner, Roland R; Omay, S Bülent SB; Baranoski, Jacob J; Baran, Burçin B; Carrión-Grant, Geneive G; Bai, Hanwen H; Mishra-Gorur, Ketu K; Schramm, Johannes J; Moliterno, Jennifer J; Vortmeyer, Alexander O AO; Bilgüvar, Kaya K; Yasuno, Katsuhito K; Young, Richard A RA; Günel, Murat M
Publication Date: 2017-02-14

Variant appearance in text: CREBBP: R483*
PubMed Link: 28195122
Variant Present in the following documents:
  • ncomms14433-s3.xlsx, sheet 3
View BVdb publication page



Novel mutations target distinct subgroups of medulloblastoma.

Nature
Robinson, Giles G; Parker, Matthew M; Kranenburg, Tanya A TA; Lu, Charles C; Chen, Xiang X; Ding, Li L; Phoenix, Timothy N TN; Hedlund, Erin E; Wei, Lei L; Zhu, Xiaoyan X; Chalhoub, Nader N; Baker, Suzanne J SJ; Huether, Robert R; Kriwacki, Richard R; Curley, Natasha N; Thiruvenkatam, Radhika R; Wang, Jianmin J; Wu, Gang G; Rusch, Michael M; Hong, Xin X; Becksfort, Jared J; Gupta, Pankaj P; Ma, Jing J; Easton, John J; Vadodaria, Bhavin B; Onar-Thomas, Arzu A; Lin, Tong T; Li, Shaoyi S; Pounds, Stanley S; Paugh, Steven S; Zhao, David D; Kawauchi, Daisuke D; Roussel, Martine F MF; Finkelstein, David D; Ellison, David W DW; Lau, Ching C CC; Bouffet, Eric E; Hassall, Tim T; Gururangan, Sridharan S; Cohn, Richard R; Fulton, Robert S RS; Fulton, Lucinda L LL; Dooling, David J DJ; Ochoa, Kerri K; Gajjar, Amar A; Mardis, Elaine R ER; Wilson, Richard K RK; Downing, James R JR; Zhang, Jinghui J; Gilbertson, Richard J RJ
Publication Date: 2012-08-02

Variant appearance in text: CREBBP: R483*
PubMed Link: 22722829
Variant Present in the following documents:
  • NIHMS374717-supplement-table_5.xlsx, sheet 1
  • NIHMS374717-supplement-table_9.xlsx, sheet 1
View BVdb publication page