Publications:

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Tumor genomic profiling and personalized tracking of circulating tumor DNA in Vietnamese colorectal cancer patients.

Frontiers In Oncology

Nguyen, Huu Thinh HT; Nguyen, Trieu Vu TV; Nguyen Hoang, Van-Anh VA; Tran, Duc Huy DH; Le Trinh, Ngoc An NA; Le, Minh Triet MT; Nguyen Tran, Tuan-Anh TA; Pham, Thanh Huyen TH; Dinh, Thi Cuc TC; Nguyen, Tien Sy TS; Nguyen The, Ky Cuong KC; Mai, Hoa H; Chu, Minh Tuan MT; Pham, Dinh Hoang DH; Nguyen, Xuan Chi XC; Ngo Ha, Thien My TM; Nguyen, Duy Sinh DS; Nguyen, Du Quyen DQ; Lu, Y-Thanh YT; Do Thi, Thanh Thuy TT; Truong, Dinh Kiet DK; Nguyen, Quynh Tho QT; Nguyen, Hoai-Nghia HN; Giang, Hoa H; Tu, Lan N LN

Publication Date: 2022

Variant appearance in text: CREBBP: P1946Hfs*30

PubMed Link: 36578946

Variant Present in the following documents:

• DataSheet_2.xlsx, sheet 1

View BVdb publication page

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Redefine Hyperprogressive Disease During Treatment With Immune-Checkpoint Inhibitors in Patients With Gastrointestinal Cancer.

Frontiers In Oncology

Wang, Zhenghang Z; Liu, Chang C; Bai, Yuezong Y; Zhao, Xiaochen X; Cui, Longgang L; Peng, Zhi Z; Zhang, Xiaotian X; Wang, Xicheng X; Zhao, Zhengyi Z; Li, Jian J; Shen, Lin L

Publication Date: 2021

Variant appearance in text: CREBBP: 5837del; P1946Hfs*30

PubMed Link: 34858840

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling.

Nature Cell Biology

Ponsioen, Bas B; Post, Jasmin B JB; Buissant des Amorie, Julian R JR; Laskaris, Dimitrios D; van Ineveld, Ravian L RL; Kersten, Simone S; Bertotti, Andrea A; Sassi, Francesco F; Sipieter, François F; Cappe, Benjamin B; Mertens, Sander S; Verlaan-Klink, Ingrid I; Boj, Sylvia F SF; Vries, Rob G J RGJ; Rehmann, Holger H; Vandenabeele, Peter P; Riquet, Franck B FB; Trusolino, Livio L; Bos, Johannes L JL; Snippert, Hugo J G HJG

Publication Date: 2021-04

Variant appearance in text: CREBBP: P1946fs*30

PubMed Link: 33795873

Variant Present in the following documents:

• EMS118801-supplement-Supplementary_Table_1.xlsx, sheet 1

View BVdb publication page

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Clinical, radiologic, and genetic characteristics of histone H3 K27M-mutant diffuse midline gliomas in adults.

Neuro-Oncology Advances

Schulte, Jessica D JD; Buerki, Robin A RA; Lapointe, Sarah S; Molinaro, Annette M AM; Zhang, Yalan Y; Villanueva-Meyer, Javier E JE; Perry, Arie A; Phillips, Joanna J JJ; Tihan, Tarik T; Bollen, Andrew W AW; Pekmezci, Melike M; Butowski, Nicholas N; Oberheim Bush, Nancy Ann NA; Taylor, Jennie W JW; Chang, Susan M SM; Theodosopoulos, Philip P; Aghi, Manish K MK; Hervey-Jumper, Shawn L SL; Berger, Mitchel S MS; Solomon, David A DA; Clarke, Jennifer L JL

Publication Date: 2020

Variant appearance in text: CREBBP: 5837delC; P1946fs

PubMed Link: 33354667

Variant Present in the following documents:

• vdaa142_suppl_supplementary_tables.xlsx, sheet 1

View BVdb publication page

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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: 5837delC

PubMed Link: 33172502

Variant Present in the following documents:

• 40478_2020_1066_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: CREBBP: P1946Hfs*30

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

View BVdb publication page

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Clinical exome sequencing identifies novel CREBBP variants in 18 Chinese Rubinstein-Taybi Syndrome kids with high frequency of polydactyly.

Molecular Genetics & Genomic Medicine

Yu, Sha S; Wu, Bingbing B; Qian, Yanyan Y; Zhang, Ping P; Lu, Yulan Y; Dong, Xinran X; Wang, Qing Q; Zhao, Xuemei X; Liu, Renchao R; Zhou, Wenhao W; Wang, Huijun H

Publication Date: 2019-12

Variant appearance in text: CREBBP: 5837delC

PubMed Link: 31637876

Variant Present in the following documents:

• Main text
• MGG3-7-e1009.pdf

View BVdb publication page

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Activation of hedgehog signaling associates with early disease progression in chronic lymphocytic leukemia.

Blood

Ghia, Emanuela M EM; Rassenti, Laura Z LZ; Neuberg, Donna S DS; Blanco, Alejandro A; Yousif, Fouad F; Smith, Erin N EN; McPherson, John D JD; Hudson, Thomas J TJ; , ; Harismendy, Olivier O; Frazer, Kelly A KA; Kipps, Thomas J TJ

Publication Date: 2019-06-20

Variant appearance in text: N/A

PubMed Link: 30923040

Variant Present in the following documents:

View BVdb publication page

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: CREBBP: P1946Hfs*30

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 19

View BVdb publication page

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Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.

Nature Communications

Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML

Publication Date: 2017-02-10

Variant appearance in text: CREBBP: 5837delC; P1946fs

PubMed Link: 28186126

Variant Present in the following documents:

• ncomms14262-s5.xlsx, sheet 2

View BVdb publication page

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Whole exome sequencing for a patient with Rubinstein-Taybi syndrome reveals de novo variants besides an overt CREBBP mutation.

International Journal Of Molecular Sciences

Yoo, Hee Jeong HJ; Kim, Kyung K; Kim, In Hyang IH; Rho, Seong-Hwan SH; Park, Jong-Eun JE; Lee, Ki Young KY; Kim, Soon Ae SA; Choi, Byung Yoon BY; Kim, Namshin N

Publication Date: 2015-03-11

Variant appearance in text: CREBBP: 5837delC; Pro1946fs

PubMed Link: 25768348

Variant Present in the following documents:

• ijms-16-05697-s001.pdf

View BVdb publication page

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