Publications:

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: CREBBP: 1801C>T; Arg601Trp

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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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: R601W

PubMed Link: 36742322

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: CREBBP: R601W

PubMed Link: 36413997

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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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: 1801C>T; Arg601Trp

PubMed Link: 34738089

Variant Present in the following documents:

• NIHMS1725490-supplement-Source_Data_Figure_1.xlsx, sheet 1

View BVdb publication page

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Diffuse large B-cell lymphomas in adults with aberrant coexpression of CD10, BCL6, and MUM1 are enriched in IRF4 rearrangements.

Blood Advances

Frauenfeld, Leonie L; Castrejon-de-Anta, Natalia N; Ramis-Zaldivar, Joan Enric JE; Streich, Sebastian S; Salmerón-Villalobos, Julia J; Otto, Franziska F; Mayer, Annika Katharina AK; Steinhilber, Julia J; Pinyol, Magda M; Mankel, Barbara B; Ramsower, Colleen C; Bonzheim, Irina I; Fend, Falko F; Rimsza, Lisa M LM; Salaverria, Itziar I; Campo, Elias E; Balagué, Olga O; Quintanilla-Martinez, Leticia L

Publication Date: 2022-04-12

Variant appearance in text: CREBBP: R601W

PubMed Link: 34654055

Variant Present in the following documents:

• advancesADV2021006034-suppl1.pdf

View BVdb publication page

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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: R601W

PubMed Link: 33479306

Variant Present in the following documents:

• 41598_2020_80376_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Somatic alterations and mutational burden are potential predictive factors for metachronous development of early gastric cancer.

Scientific Reports

Sakuta, Kazuhiro K; Sasaki, Yu Y; Abe, Yasuhiko Y; Sato, Hidenori H; Shoji, Masakuni M; Yaoita, Takao T; Yagi, Makoto M; Mizumoto, Naoko N; Onozato, Yusuke Y; Kon, Takashi T; Koseki, Ayumi A; Sato, Sonoko S; Murakami, Ryoko R; Miyano, Yuki Y; Ueno, Yoshiyuki Y

Publication Date: 2020-12-16

Variant appearance in text: CREBBP: R601W

PubMed Link: 33328548

Variant Present in the following documents:

• 41598_2020_79195_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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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: R601W

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

View BVdb publication page

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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: 1801C>T; Arg601Trp

PubMed Link: 32332851

Variant Present in the following documents:

• 41467_2020_15885_MOESM3_ESM.xlsx, sheet 3

View BVdb publication page

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Circulating tumor DNA predicts response in Chinese patients with relapsed or refractory classical hodgkin lymphoma treated with sintilimab.

Ebiomedicine

Shi, Yuankai Y; Su, Hang H; Song, Yongping Y; Jiang, Wenqi W; Sun, Xiuhua X; Qian, Wenbin W; Zhang, Wei W; Gao, Yuhuan Y; Jin, Zhengming Z; Zhou, Jianfeng J; Jin, Chuan C; Zou, Liqun L; Qiu, Lugui L; Li, Wei W; Yang, Jianmin J; Hou, Ming M; Xiong, Yan Y; Zhou, Hui H; Du, Xinhua X; Wang, Xiong X; Peng, Bo B

Publication Date: 2020-04

Variant appearance in text: CREBBP: 1801C>T; R601W

PubMed Link: 32304999

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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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: 1801C>T; R601W

PubMed Link: 31925297

Variant Present in the following documents:

• 42003_2019_736_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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JUNB, DUSP2, SGK1, SOCS1 and CREBBP are frequently mutated in T-cell/histiocyte-rich large B-cell lymphoma.

Haematologica

Schuhmacher, Bianca B; Bein, Julia J; Rausch, Tobias T; Benes, Vladimir V; Tousseyn, Thomas T; Vornanen, Martine M; Ponzoni, Maurilio M; Thurner, Lorenz L; Gascoyne, Randy R; Steidl, Christian C; Küppers, Ralf R; Hansmann, Martin-Leo ML; Hartmann, Sylvia S

Publication Date: 2019-02

Variant appearance in text: CREBBP: R601W

PubMed Link: 30213827

Variant Present in the following documents:

• 2018.203224.SCHUHMACHER_SUPPL.pdf

View BVdb publication page

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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology

Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I

Publication Date: 2018-07

Variant appearance in text: CREBBP: 1801C>T; R601W

PubMed Link: 29604063

Variant Present in the following documents:

• PATH-245-283-s022.xlsx, sheet 1

View BVdb publication page

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: CREBBP: 1801C>T; R601W

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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