CREBBP c.4231G>C ;(p.G1411R)

Variant ID: 16-3789628-C-G

NM_004380.2(CREBBP):c.4231G>C;(p.G1411R)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


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: 4231G>C; G1411R
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Plasma Concentrations and Cancer-Associated Mutations in Cell-Free Circulating DNA of Treatment-Naive Follicular Lymphoma for Improved Non-Invasive Diagnosis and Prognosis.

Frontiers In Oncology
Hatipoğlu, Tevfik T; Esmeray Sönmez, Esra E; Hu, Xiaozhou X; Yuan, Hongling H; Danyeli, Ayça Erşen AE; Şeyhanlı, Ahmet A; Önal-Süzek, Tuğba T; Zhang, Weiwei W; Akman, Burcu B; Olgun, Aybüke A; Özkal, Sermin S; Alacacıoğlu, İnci İ; Özcan, Mehmet Ali MA; You, Hua H; Küçük, Can C
Publication Date: 2022

Variant appearance in text: CREBBP: G1411R
PubMed Link: 35795062
Variant Present in the following documents:
  • DataSheet_2.xlsx, sheet 2
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: G1411R
PubMed Link: 35436854
Variant Present in the following documents:
  • 12863_2022_1041_MOESM15_ESM.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: G1411R
PubMed Link: 35363872
Variant Present in the following documents:
  • BLOODA_ADV-2021-005284-mmc1.xlsx, sheet 2
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: CREBBP: Gly1411Arg
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated analysis of relapsed B-cell precursor Acute Lymphoblastic Leukemia identifies subtype-specific cytokine and metabolic signatures.

Scientific Reports
Schroeder, Michael P MP; Bastian, Lorenz L; Eckert, Cornelia C; Gökbuget, Nicola N; James, Alva Rani AR; Tanchez, Jutta Ortiz JO; Schlee, Cornelia C; Isaakidis, Konstandina K; Häupl, Björn B; Baum, Katharina K; Migueles Lozano, Oscar Arturo OA; Kouidri, Khouloud K; Pan, Kuan-Ting KT; Urlaub, Henning H; Schwartz, Stefan S; Burmeister, Thomas T; von Stackelberg, Arend A; Hoelzer, Dieter D; Pfeiffer, Heike H; Rieger, Michael A MA; Göllner, Stefanie S; Oellerich, Thomas T; Horstman, Martin M; Schrappe, Martin M; Wolf, Jana J; Kirschner-Schwabe, Renate R; Brüggemann, Monika M; Müller-Tidow, Carsten C; Serve, Hubert H; Neumann, Martin M; Baldus, Claudia D CD
Publication Date: 2019-03-12

Variant appearance in text: CREBBP: G1411R
PubMed Link: 30862934
Variant Present in the following documents:
  • 41598_2019_40786_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Frequent structural variations involving programmed death ligands in Epstein-Barr virus-associated lymphomas.

Leukemia
Kataoka, Keisuke K; Miyoshi, Hiroaki H; Sakata, Seiji S; Dobashi, Akito A; Couronné, Lucile L; Kogure, Yasunori Y; Sato, Yasuharu Y; Nishida, Kenji K; Gion, Yuka Y; Shiraishi, Yuichi Y; Tanaka, Hiroko H; Chiba, Kenichi K; Watatani, Yosaku Y; Kakiuchi, Nobuyuki N; Shiozawa, Yusuke Y; Yoshizato, Tetsuichi T; Yoshida, Kenichi K; Makishima, Hideki H; Sanada, Masashi M; Onozawa, Masahiro M; Teshima, Takanori T; Yoshiki, Yumiko Y; Ishida, Tadao T; Suzuki, Kenshi K; Shimada, Kazuyuki K; Tomita, Akihiro A; Kato, Motohiro M; Ota, Yasunori Y; Izutsu, Koji K; Demachi-Okamura, Ayako A; Akatsuka, Yoshiki Y; Miyano, Satoru S; Yoshino, Tadashi T; Gaulard, Philippe P; Hermine, Olivier O; Takeuchi, Kengo K; Ohshima, Koichi K; Ogawa, Seishi S
Publication Date: 2019-07

Variant appearance in text: CREBBP: G1411R
PubMed Link: 30683910
Variant Present in the following documents:
  • 41375_2019_380_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Genomic and transcriptional landscape of P2RY8-CRLF2-positive childhood acute lymphoblastic leukemia.

Leukemia
Vesely, C C; Frech, C C; Eckert, C C; Cario, G G; Mecklenbräuker, A A; Zur Stadt, U U; Nebral, K K; Kraler, F F; Fischer, S S; Attarbaschi, A A; Schuster, M M; Bock, C C; Cavé, H H; von Stackelberg, A A; Schrappe, M M; Horstmann, M A MA; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2017-07

Variant appearance in text: CREBBP: G1411R
PubMed Link: 27899802
Variant Present in the following documents:
  • leu2016365x3.xlsx, sheet 1
View BVdb publication page



KRAS and CREBBP mutations: a relapse-linked malicious liaison in childhood high hyperdiploid acute lymphoblastic leukemia.

Leukemia
Malinowska-Ozdowy, K K; Frech, C C; Schönegger, A A; Eckert, C C; Cazzaniga, G G; Stanulla, M M; zur Stadt, U U; Mecklenbräuker, A A; Schuster, M M; Kneidinger, D D; von Stackelberg, A A; Locatelli, F F; Schrappe, M M; Horstmann, M A MA; Attarbaschi, A A; Bock, C C; Mann, G G; Haas, O A OA; Panzer-Grümayer, R R
Publication Date: 2015-08

Variant appearance in text: CREBBP: G1411R
PubMed Link: 25917266
Variant Present in the following documents:
  • leu2015107x2.xls, sheet 1
  • leu2015107x5.xls, sheet 1
View BVdb publication page