Publications:

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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: p53: R209Q

PubMed Link: 36971051

Variant Present in the following documents:

• CAM4-12-10267-s002.xlsx, sheet 1

View BVdb publication page

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A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research

Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER

Publication Date: 2023-03-16

Variant appearance in text: TP53: R209Q

PubMed Link: 36928921

Variant Present in the following documents:

• ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3

View BVdb publication page

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Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications

White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C

Publication Date: 2022-09

Variant appearance in text: TP53: R209Q

PubMed Link: 36922933

Variant Present in the following documents:

• crc-22-0136-s01.xlsx, sheet 1
• crc-22-0136-s01.xlsx, sheet 3

View BVdb publication page

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A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology

Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW

Publication Date: 2023-03-13

Variant appearance in text: TP53: R209Q

PubMed Link: 36914848

Variant Present in the following documents:

• 41698_2023_366_MOESM2_ESM.xlsx, sheet 4

View BVdb publication page

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Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics

Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA

Publication Date: 2022-11-10

Variant appearance in text: TP53: Arg209Gln

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.xlsx, sheet 1

View BVdb publication page

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Clinical Practice of Targeted Capture Sequencing to Identify Actionable Alterations in Cholangiocarcinoma.

Cancers

Ma, Kai K; Wang, Youpeng Y; Zhang, Yuanzheng Y; Sun, Hongfa H; Zhang, Xuhui X; Sun, Chuandong C; Zhang, Bingyuan B; Zhang, Ying Y; Cheng, Haoyue H; Liu, Ao A; Wang, Mengyao M; Han, Bing B

Publication Date: 2022-10-16

Variant appearance in text: TP53: R209Q

PubMed Link: 36291846

Variant Present in the following documents:

• cancers-14-05062.pdf

View BVdb publication page

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Integrated longitudinal analysis of adult grade 4 diffuse gliomas with long-term relapse interval revealed upregulation of TGF-β signaling in recurrent tumors.

Neuro-Oncology

Kashani, Elham E; Schnidrig, Désirée D; Hashemi Gheinani, Ali A; Ninck, Martina Selina MS; Zens, Philipp P; Maragkou, Theoni T; Baumgartner, Ulrich U; Schucht, Philippe P; Rätsch, Gunnar G; Rubin, Mark A MA; Berezowska, Sabina S; Ng, Charlotte K Y CKY; Vassella, Erik E; ,

Publication Date: 2022-09-17

Variant appearance in text: TP53: Arg209Gln

PubMed Link: 36124685

Variant Present in the following documents:

• noac220_suppl_supplementary_table_s3.xlsx, sheet 1

View BVdb publication page

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Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology

Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W

Publication Date: 2022

Variant appearance in text: TP53: R209Q

PubMed Link: 36072793

Variant Present in the following documents:

• Table_3.xlsx, sheet 1

View BVdb publication page

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Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.

Genome Medicine

Berrino, Enrico E; Annaratone, Laura L; Bellomo, Sara Erika SE; Ferrero, Giulio G; Gagliardi, Amedeo A; Bragoni, Alberto A; Grassini, Dora D; Guarrera, Simonetta S; Parlato, Caterina C; Casorzo, Laura L; Panero, Mara M; Sarotto, Ivana I; Giordano, Silvia S; Cereda, Matteo M; Montemurro, Filippo F; Ponzone, Riccardo R; Crosetto, Nicola N; Naccarati, Alessio A; Sapino, Anna A; Marchiò, Caterina C

Publication Date: 2022-08-29

Variant appearance in text: TP53: R209Q

PubMed Link: 36038884

Variant Present in the following documents:

• 13073_2022_1104_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Genetic and immunohistochemical profiling of NK/T-cell Lymphomas reveals prognostically relevant BCOR-MYC association.

Blood Advances

Oishi, Naoki N; Satou, Akira A; Miyaoka, Masashi M; Kawashima, Ichiro I; Segawa, Takahiro T; Miyake, Kunio K; Mochizuki, Kunio K; Kirito, Keita K; Feldman, Andrew A; Nakamura, Naoya N; Kondo, Tetsuo T

Publication Date: 2022-07-26

Variant appearance in text: TP53: R209Q

PubMed Link: 35882439

Variant Present in the following documents:

• BLOODA_ADV-2022-007541-mmc2.xlsx, sheet 1

View BVdb publication page

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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: TP53: R209Q

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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CKS1 inhibition depletes leukemic stem cells and protects healthy hematopoietic stem cells in acute myeloid leukemia.

Science Translational Medicine

Grey, William W; Rio-Machin, Ana A; Casado, Pedro P; Grönroos, Eva E; Ali, Sara S; Miettinen, Juho J JJ; Bewicke-Copley, Findlay F; Parsons, Alun A; Heckman, Caroline A CA; Swanton, Charles C; Cutillas, Pedro R PR; Gribben, John J; Fitzgibbon, Jude J; Bonnet, Dominique D

Publication Date: 2022-06-22

Variant appearance in text: TP53: R209Q

PubMed Link: 35731890

Variant Present in the following documents:

• EMS146397-supplement-Supplementary_Tables.xlsx, sheet 4

View BVdb publication page

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The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature

Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS

Publication Date: 2022-06

Variant appearance in text: TP53: R209Q

PubMed Link: 35650444

Variant Present in the following documents:

• 41586_2022_4785_MOESM5_ESM.xlsx, sheet 1
• 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1

View BVdb publication page

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Construction and validation of an immunoediting-based optimized neoantigen load (ioTNL) model to predict the response and prognosis of immune checkpoint therapy in various cancers.

Aging

Su, Xiaofan X; Jin, Haoxuan H; Wang, Jiaqian J; Lu, Huiping H; Gu, Tiantian T; Gao, Zhibo Z; Li, Manxiang M

Publication Date: 2022-05-25

Variant appearance in text: TP53: R209Q

PubMed Link: 35613927

Variant Present in the following documents:

• aging-14-204101-s004.xlsx, sheet 1

View BVdb publication page

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Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal

Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H

Publication Date: 2022-04

Variant appearance in text: TP53: R209Q

PubMed Link: 35550340

Variant Present in the following documents:

• mmc1.xlsx, sheet 1

View BVdb publication page

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Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications

Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D

Publication Date: 2022-04-21

Variant appearance in text: TP53: R209Q

PubMed Link: 35449156

Variant Present in the following documents:

• 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.

Cancers

Yu, Guangyang G; Pang, Ying Y; Merchant, Mythili M; Kesserwan, Chimene C; Gangalapudi, Vineela V; Abdelmaksoud, Abdalla A; Ranjan, Alice A; Kim, Olga O; Wei, Jun S JS; Chou, Hsien-Chao HC; Wen, Xinyu X; Sindiri, Sivasish S; Song, Young K YK; Xi, Liqiang L; Kaplan, Rosandra N RN; Armstrong, Terri S TS; Gilbert, Mark R MR; Aldape, Kenneth K; Khan, Javed J; Wu, Jing J

Publication Date: 2021-12-03

Variant appearance in text: TP53: R209Q

PubMed Link: 34885201

Variant Present in the following documents:

• Main text
• cancers-13-06092.pdf

View BVdb publication page

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Tumor Mutation Burden, Expressed Neoantigens and the Immune Microenvironment in Diffuse Gliomas.

Cancers

Yu, Guangyang G; Pang, Ying Y; Merchant, Mythili M; Kesserwan, Chimene C; Gangalapudi, Vineela V; Abdelmaksoud, Abdalla A; Ranjan, Alice A; Kim, Olga O; Wei, Jun S JS; Chou, Hsien-Chao HC; Wen, Xinyu X; Sindiri, Sivasish S; Song, Young K YK; Xi, Liqiang L; Kaplan, Rosandra N RN; Armstrong, Terri S TS; Gilbert, Mark R MR; Aldape, Kenneth K; Khan, Javed J; Wu, Jing J

Publication Date: 2021-12-03

Variant appearance in text: TP53: R209Q

PubMed Link: 34885201

Variant Present in the following documents:

• Main text
• cancers-13-06092.pdf

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-11-25

Variant appearance in text: TP53: R209Q

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine

Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B

Publication Date: 2021-12

Variant appearance in text: TP53: R209Q

PubMed Link: 34839264

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Deciphering genes associated with diffuse large B-cell lymphoma with lymphomatous effusions: A mutational accumulation scoring approach.

Biomarker Research

Abdollahi, Sina S; Dehghanian, Seyedeh Zahra SZ; Hung, Liang-Yi LY; Yang, Shiang-Jie SJ; Chen, Dao-Peng DP; Medeiros, L Jeffrey LJ; Chiang, Jung-Hsien JH; Chang, Kung-Chao KC

Publication Date: 2021-10-09

Variant appearance in text: TP53: R209Q

PubMed Link: 34635181

Variant Present in the following documents:

• 40364_2021_330_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic evidence suggests that cutaneous neuroendocrine carcinomas can arise from squamous dysplastic precursors.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Harms, Paul W PW; Verhaegen, Monique E ME; Hu, Kevin K; Hrycaj, Steven M SM; Chan, May P MP; Liu, Chia-Jen CJ; Grachtchouk, Marina M; Patel, Rajiv M RM; Udager, Aaron M AM; Dlugosz, Andrzej A AA

Publication Date: 2022-04

Variant appearance in text: TP53: R209Q

PubMed Link: 34593967

Variant Present in the following documents:

• NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 5
• NIHMS1739265-supplement-Supplemental_Tables.xlsx, sheet 4

View BVdb publication page

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The Immune Landscape of Chinese Head and Neck Adenoid Cystic Carcinoma and Clinical Implication.

Frontiers In Immunology

Dou, Shengjin S; Li, Rongrong R; He, Ning N; Zhang, Menghuan M; Jiang, Wen W; Ye, Lulu L; Yang, Yining Y; Zhao, Guodong G; Yang, Yadong Y; Li, Jiang J; Chen, Di D; Zhu, Guopei G

Publication Date: 2021

Variant appearance in text: TP53: R209Q

PubMed Link: 34552580

Variant Present in the following documents:

• DataSheet_4.xlsx, sheet 2

View BVdb publication page

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The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine

Chang, Darwin D; Shain, A Hunter AH

Publication Date: 2021-07-16

Variant appearance in text: TP53: R209Q

PubMed Link: 34272401

Variant Present in the following documents:

• 41525_2021_226_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Integrated genomic-metabolic classification of acute myeloid leukemia defines a subgroup with NPM1 and cohesin/DNA damage mutations.

Leukemia

Simonetti, Giorgia G; Mengucci, Carlo C; Padella, Antonella A; Fonzi, Eugenio E; Picone, Gianfranco G; Delpino, Claudio C; Nanni, Jacopo J; De Tommaso, Rossella R; Franchini, Eugenia E; Papayannidis, Cristina C; Marconi, Giovanni G; Pazzaglia, Martina M; Perricone, Margherita M; Scarpi, Emanuela E; Fontana, Maria Chiara MC; Bruno, Samantha S; Tebaldi, Michela M; Ferrari, Anna A; Bochicchio, Maria Teresa MT; Ghelli Luserna Di Rorà, Andrea A; Ghetti, Martina M; Napolitano, Roberta R; Astolfi, Annalisa A; Baldazzi, Carmen C; Guadagnuolo, Viviana V; Ottaviani, Emanuela E; Iacobucci, Ilaria I; Cavo, Michele M; Castellani, Gastone G; Haferlach, Torsten T; Remondini, Daniel D; Capozzi, Francesco F; Martinelli, Giovanni G

Publication Date: 2021-10

Variant appearance in text: TP53: R209Q

PubMed Link: 34193978

Variant Present in the following documents:

• 41375_2021_1318_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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2-kupl: mapping-free variant detection from DNA-seq data of matched samples.

Bmc Bioinformatics

Wang, Yunfeng Y; Xue, Haoliang H; Pourcel, Christine C; Du, Yang Y; Gautheret, Daniel D

Publication Date: 2021-06-05

Variant appearance in text: TP53: R209Q

PubMed Link: 34090332

Variant Present in the following documents:

• 12859_2021_4185_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Molecular landscape and subtype-specific therapeutic response of nasopharyngeal carcinoma revealed by integrative pharmacogenomics.

Nature Communications

Ding, Ren-Bo RB; Chen, Ping P; Rajendran, Barani Kumar BK; Lyu, Xueying X; Wang, Haitao H; Bao, Jiaolin J; Zeng, Jianming J; Hao, Wenhui W; Sun, Heng H; Wong, Ada Hang-Heng AH; Valecha, Monica Vishnu MV; Yang, Eun Ju EJ; Su, Sek Man SM; Choi, Tak Kan TK; Liu, Shuiming S; Chan, Kin Iong KI; Yang, Ling-Lin LL; Wu, Jingbo J; Miao, Kai K; Chen, Qiang Q; Shim, Joong Sup JS; Xu, Xiaoling X; Deng, Chu-Xia CX

Publication Date: 2021-05-24

Variant appearance in text: TP53: Arg209Gln

PubMed Link: 34031426

Variant Present in the following documents:

• 41467_2021_23379_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia.

Nature Communications

Ochi, Yotaro Y; Yoshida, Kenichi K; Huang, Ying-Jung YJ; Kuo, Ming-Chung MC; Nannya, Yasuhito Y; Sasaki, Ko K; Mitani, Kinuko K; Hosoya, Noriko N; Hiramoto, Nobuhiro N; Ishikawa, Takayuki T; Branford, Susan S; Shanmuganathan, Naranie N; Ohyashiki, Kazuma K; Takahashi, Naoto N; Takaku, Tomoiku T; Tsuchiya, Shun S; Kanemura, Nobuhiro N; Nakamura, Nobuhiko N; Ueda, Yasunori Y; Yoshihara, Satoshi S; Bera, Rabindranath R; Shiozawa, Yusuke Y; Zhao, Lanying L; Takeda, June J; Watatani, Yosaku Y; Okuda, Rurika R; Makishima, Hideki H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Sanada, Masashi M; Takaori-Kondo, Akifumi A; Miyano, Satoru S; Ogawa, Seishi S; Shih, Lee-Yung LY

Publication Date: 2021-05-14

Variant appearance in text: TP53: R209Q

PubMed Link: 33990592

Variant Present in the following documents:

• 41467_2021_23097_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine

Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F

Publication Date: 2021-04

Variant appearance in text: TP53: R209Q

PubMed Link: 33862582

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology

Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z

Publication Date: 2021

Variant appearance in text: TP53: R209Q

PubMed Link: 33747936

Variant Present in the following documents:

• Data_Sheet_1.xlsx, sheet 2

View BVdb publication page

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The transcriptional landscape of Shh medulloblastoma.

Nature Communications

Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD

Publication Date: 2021-03-19

Variant appearance in text: TP53: R209Q

PubMed Link: 33741928

Variant Present in the following documents:

• 41467_2021_21883_MOESM5_ESM.xlsx, sheet 2

View BVdb publication page

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A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ

Publication Date: 2021-02-10

Variant appearance in text: TP53: Arg209Gln

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications

Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U

Publication Date: 2020-07-20

Variant appearance in text: TP53: R209Q

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research

Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG

Publication Date: 2020-06

Variant appearance in text: TP53: R209Q

PubMed Link: 32661091

Variant Present in the following documents:

• supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1

View BVdb publication page

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Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Aging

Zhang, Manman M; Zhang, Lele L; Li, Yan Y; Sun, Feng F; Fang, Ya Y; Zhang, Ruijia R; Wu, Jin J; Zhou, Guanbiao G; Song, Huaidong H; Xue, Liqiong L; Han, Bing B; Zheng, Cuixia C

Publication Date: 2020-07-06

Variant appearance in text: TP53: R209Q

PubMed Link: 32629428

Variant Present in the following documents:

• aging-12-103500-s002..xlsx, sheet 1

View BVdb publication page

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Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Plos One

Singh, Richa R; Das, Shreya S; Datta, Sila S; Mazumdar, Anjana A; Biswas, Nidhan K NK; Maitra, Arindam A; Majumder, Partha P PP; Ghose, Sandip S; Roy, Bidyut B

Publication Date: 2020

Variant appearance in text: TP53: R209Q

PubMed Link: 32492030

Variant Present in the following documents:

• pone.0233058.s001.xlsx, sheet 19

View BVdb publication page

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Reconstructing clonal evolution in relapsed and non-relapsed Burkitt lymphoma.

Leukemia

Reutter, Katrin K; Sandmann, Sarah S; Rohde, Jonas J; Müller, Stephanie S; Wöste, Marius M; Khanam, Tasneem T; Michgehl, Ulf U; Klapper, Wolfram W; Wößmann, Wilhelm W; Seggewiß, Jochen J; Lenz, Georg G; Dugas, Martin M; Burkhardt, Birgit B

Publication Date: 2021-02

Variant appearance in text: TP53: Arg209Gln

PubMed Link: 32404974

Variant Present in the following documents:

• 41375_2020_862_MOESM2_ESM.xlsx, sheet 1
• 41375_2020_862_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Immuno-genomic landscape of osteosarcoma.

Nature Communications

Wu, Chia-Chin CC; Beird, Hannah C HC; Andrew Livingston, J J; Advani, Shailesh S; Mitra, Akash A; Cao, Shaolong S; Reuben, Alexandre A; Ingram, Davis D; Wang, Wei-Lien WL; Ju, Zhenlin Z; Hong Leung, Cheuk C; Lin, Heather H; Zheng, Youyun Y; Roszik, Jason J; Wang, Wenyi W; Patel, Shreyaskumar S; Benjamin, Robert S RS; Somaiah, Neeta N; Conley, Anthony P AP; Mills, Gordon B GB; Hwu, Patrick P; Gorlick, Richard R; Lazar, Alexander A; Daw, Najat C NC; Lewis, Valerae V; Futreal, P Andrew PA

Publication Date: 2020-02-21

Variant appearance in text: TP53: R209Q

PubMed Link: 32081846

Variant Present in the following documents:

• 41467_2020_14646_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: TP53: R209Q

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Mutation Profiling of Premalignant Colorectal Neoplasia.

Gastroenterology Research And Practice

Karczmarski, Jakub J; Goryca, Krzysztof K; Pachlewski, Jacek J; Dabrowska, Michalina M; Pysniak, Kazimiera K; Paziewska, Agnieszka A; Kulecka, Maria M; Lenarcik, Malgorzata M; Mroz, Andrzej A; Mikula, Michal M; Ostrowski, Jerzy J

Publication Date: 2019

Variant appearance in text: TP53: R209Q

PubMed Link: 31781186

Variant Present in the following documents:

• 2542640.f1.xlsx, sheet 1

View BVdb publication page

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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: TP53: R209Q

PubMed Link: 31660073

Variant Present in the following documents:

• thnov09p6856s2.xlsx, sheet 7

View BVdb publication page

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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TP53: R209Q

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2

View BVdb publication page

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DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications

Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK

Publication Date: 2019-09-19

Variant appearance in text: TP53: R209Q

PubMed Link: 31537801

Variant Present in the following documents:

• 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Patient-derived lung cancer organoids as in vitro cancer models for therapeutic screening.

Nature Communications

Kim, Minsuh M; Mun, Hyemin H; Sung, Chang Oak CO; Cho, Eun Jeong EJ; Jeon, Hye-Joon HJ; Chun, Sung-Min SM; Jung, Da Jung DJ; Shin, Tae Hoon TH; Jeong, Gi Seok GS; Kim, Dong Kwan DK; Choi, Eun Kyung EK; Jeong, Seong-Yun SY; Taylor, Alison M AM; Jain, Sejal S; Meyerson, Matthew M; Jang, Se Jin SJ

Publication Date: 2019-09-05

Variant appearance in text: TP53: R209Q

PubMed Link: 31488816

Variant Present in the following documents:

• 41467_2019_11867_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports

Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC

Publication Date: 2019-07-18

Variant appearance in text: TP53: R209Q

PubMed Link: 31320741

Variant Present in the following documents:

• 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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DNA-Repair Gene Mutations Are Highly Prevalent in Circulating Tumour DNA from Multiple Myeloma Patients.

Cancers

Mithraprabhu, Sridurga S; Hocking, Jay J; Ramachandran, Malarmathy M; Choi, Kawa K; Klarica, Daniela D; Khong, Tiffany T; Reynolds, John J; Spencer, Andrew A

Publication Date: 2019-06-29

Variant appearance in text: TP53: R209Q

PubMed Link: 31261969

Variant Present in the following documents:

• cancers-11-00917-s001.xlsx, sheet 2

View BVdb publication page

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Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics

Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J

Publication Date: 2019

Variant appearance in text: TP53: R209Q

PubMed Link: 30809292

Variant Present in the following documents:

• thnov09p0540s1.pdf

View BVdb publication page

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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: TP53: R209Q

PubMed Link: 30683910

Variant Present in the following documents:

• 41375_2019_380_MOESM2_ESM.xlsx, sheet 9

View BVdb publication page

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Memory T cells targeting oncogenic mutations detected in peripheral blood of epithelial cancer patients.

Nature Communications

Cafri, Gal G; Yossef, Rami R; Pasetto, Anna A; Deniger, Drew C DC; Lu, Yong-Chen YC; Parkhurst, Maria M; Gartner, Jared J JJ; Jia, Li L; Ray, Satyajit S; Ngo, Lien T LT; Jafferji, Mohammad M; Sachs, Abraham A; Prickett, Todd T; Robbins, Paul F PF; Rosenberg, Steven A SA

Publication Date: 2019-01-25

Variant appearance in text: TP53: R209Q

PubMed Link: 30683863

Variant Present in the following documents:

• 41467_2019_8304_MOESM7_ESM.xlsx, sheet 1
• 41467_2019_8304_MOESM6_ESM.xlsx, sheet 1
• 41467_2019_8304_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: TP53: R209Q

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: TP53: R209Q

PubMed Link: 30588243

Variant Present in the following documents:

• jcav09p4596s2.xlsx, sheet 1

View BVdb publication page

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Contribution of allelic imbalance to colorectal cancer.

Nature Communications

Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA

Publication Date: 2018-09-10

Variant appearance in text: TP53: R209Q

PubMed Link: 30202008

Variant Present in the following documents:

• 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1

View BVdb publication page

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Oncogenic activation of the STAT3 pathway drives PD-L1 expression in natural killer/T-cell lymphoma.

Blood

Song, Tammy Linlin TL; Nairismägi, Maarja-Liisa ML; Laurensia, Yurike Y; Lim, Jing-Quan JQ; Tan, Jing J; Li, Zhi-Mei ZM; Pang, Wan-Lu WL; Kizhakeyil, Atish A; Wijaya, Giovani-Claresta GC; Huang, Da-Chuan DC; Nagarajan, Sanjanaa S; Chia, Burton Kuan-Hui BK; Cheah, Daryl D; Liu, Yan-Hui YH; Zhang, Fen F; Rao, Hui-Lan HL; Tang, Tiffany T; Wong, Esther Kam-Yin EK; Bei, Jin-Xin JX; Iqbal, Jabed J; Grigoropoulos, Nicholas-Francis NF; Ng, Siok-Bian SB; Chng, Wee-Joo WJ; Teh, Bin-Tean BT; Tan, Soo-Yong SY; Verma, Navin Kumar NK; Fan, Hao H; Lim, Soon-Thye ST; Ong, Choon-Kiat CK

Publication Date: 2018-09-13

Variant appearance in text: TP53: R209Q

PubMed Link: 30054295

Variant Present in the following documents:

• Main text

View BVdb publication page

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Investigating the Feasibility of Targeted Next-Generation Sequencing to Guide the Treatment of Head and Neck Squamous Cell Carcinoma.

Cancer Research And Treatment

Lim, Sun Min SM; Cho, Sang Hee SH; Hwang, In Gyu IG; Choi, Jae Woo JW; Chang, Hyun H; Ahn, Myung-Ju MJ; Park, Keon Uk KU; Kim, Ji-Won JW; Ko, Yoon Ho YH; Ahn, Hee Kyung HK; Cho, Byoung Chul BC; Nam, Byung-Ho BH; Chun, Sang Hoon SH; Hong, Ji Hyung JH; Kwon, Jung Hye JH; Choi, Jong Gwon JG; Kang, Eun Joo EJ; Yun, Tak T; Lee, Keun-Wook KW; Kim, Joo-Hang JH; Kim, Jin Soo JS; Lee, Hyun Woo HW; Kim, Min Kyoung MK; Jung, Dongmin D; Kim, Ji Eun JE; Keam, Bhumsuk B; Yun, Hwan Jung HJ; Kim, Sangwoo S; Kim, Hye Ryun HR

Publication Date: 2019-01

Variant appearance in text: TP53: R209Q

PubMed Link: 29747488

Variant Present in the following documents:

• Main text
• crt-2018-012.pdf

View BVdb publication page

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The genomic landscape of small cell carcinoma of the esophagus.

Cell Research

Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH

Publication Date: 2018-07

Variant appearance in text: TP53: R209Q

PubMed Link: 29728688

Variant Present in the following documents:

• 41422_2018_39_MOESM18_ESM.xls, sheet 1

View BVdb publication page

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Unexpected cancer-predisposition gene variants in Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome patients without underlying germline PTEN mutations.

Plos Genetics

Yehia, Lamis L; Ni, Ying Y; Sesock, Kaitlin K; Niazi, Farshad F; Fletcher, Benjamin B; Chen, Hannah Jin Lian HJL; LaFramboise, Thomas T; Eng, Charis C

Publication Date: 2018-04

Variant appearance in text: TP53: R209Q

PubMed Link: 29684080

Variant Present in the following documents:

• pgen.1007352.s010.xlsx, sheet 1

View BVdb publication page

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Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Nature Communications

Dufva, Olli O; Kankainen, Matti M; Kelkka, Tiina T; Sekiguchi, Nodoka N; Awad, Shady Adnan SA; Eldfors, Samuli S; Yadav, Bhagwan B; Kuusanmäki, Heikki H; Malani, Disha D; Andersson, Emma I EI; Pietarinen, Paavo P; Saikko, Leena L; Kovanen, Panu E PE; Ojala, Teija T; Lee, Dean A DA; Loughran, Thomas P TP; Nakazawa, Hideyuki H; Suzumiya, Junji J; Suzuki, Ritsuro R; Ko, Young Hyeh YH; Kim, Won Seog WS; Chuang, Shih-Sung SS; Aittokallio, Tero T; Chan, Wing C WC; Ohshima, Koichi K; Ishida, Fumihiro F; Mustjoki, Satu S

Publication Date: 2018-04-19

Variant appearance in text: TP53: R209Q

PubMed Link: 29674644

Variant Present in the following documents:

• 41467_2018_3987_MOESM6_ESM.xlsx, sheet 19

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: R209Q

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s008.xlsx, sheet 2
• pone.0189881.s008.xlsx, sheet 3
• pone.0189881.s008.xlsx, sheet 1
• pone.0189881.s008.xlsx, sheet 4

View BVdb publication page

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Establishment of a human primary pancreatic cancer mouse model to examine and investigate gemcitabine resistance.

Oncology Reports

Zhang, Ya-Jing YJ; Wen, Chen-Lei CL; Qin, Yu-Xin YX; Tang, Xiao-Mei XM; Shi, Min-Min MM; Shen, Bai-Yong BY; Fang, Yuan Y

Publication Date: 2017-12

Variant appearance in text: TP53: R209Q

PubMed Link: 29039610

Variant Present in the following documents:

• Main text
• or-38-06-3335.pdf

View BVdb publication page

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APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Nature Communications

Chen, Ting-Wen TW; Lee, Chi-Ching CC; Liu, Hsuan H; Wu, Chi-Sheng CS; Pickering, Curtis R CR; Huang, Po-Jung PJ; Wang, Jing J; Chang, Ian Yi-Feng IY; Yeh, Yuan-Ming YM; Chen, Chih-De CD; Li, Hsin-Pai HP; Luo, Ji-Dung JD; Tan, Bertrand Chin-Ming BC; Chan, Timothy En Haw TEH; Hsueh, Chuen C; Chu, Lichieh Julie LJ; Chen, Yi-Ting YT; Zhang, Bing B; Yang, Chia-Yu CY; Wu, Chih-Ching CC; Hsu, Chia-Wei CW; See, Lai-Chu LC; Tang, Petrus P; Yu, Jau-Song JS; Liao, Wei-Chao WC; Chiang, Wei-Fan WF; Rodriguez, Henry H; Myers, Jeffrey N JN; Chang, Kai-Ping KP; Chang, Yu-Sun YS

Publication Date: 2017-09-06

Variant appearance in text: TP53: R209Q

PubMed Link: 28878238

Variant Present in the following documents:

• 41467_2017_493_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Mutational heterogeneity in non-serous ovarian cancers.

Scientific Reports

Teer, Jamie K JK; Yoder, Sean S; Gjyshi, Anxhela A; Nicosia, Santo V SV; Zhang, Chaomei C; Monteiro, Alvaro N A ANA

Publication Date: 2017-08-29

Variant appearance in text: TP53: R209Q

PubMed Link: 28852190

Variant Present in the following documents:

• 41598_2017_10432_MOESM2_ESM.xlsx, sheet 5

View BVdb publication page

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Heterogeneous Tumor-Immune Microenvironments among Differentially Growing Metastases in an Ovarian Cancer Patient.

Cell

Jiménez-Sánchez, Alejandro A; Memon, Danish D; Pourpe, Stephane S; Veeraraghavan, Harini H; Li, Yanyun Y; Vargas, Hebert Alberto HA; Gill, Michael B MB; Park, Kay J KJ; Zivanovic, Oliver O; Konner, Jason J; Ricca, Jacob J; Zamarin, Dmitriy D; Walther, Tyler T; Aghajanian, Carol C; Wolchok, Jedd D JD; Sala, Evis E; Merghoub, Taha T; Snyder, Alexandra A; Miller, Martin L ML

Publication Date: 2017-08-24

Variant appearance in text: TP53: R209Q

PubMed Link: 28841418

Variant Present in the following documents:

• mmc4.xls, sheet 6

View BVdb publication page

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Tobacco habituated and non-habituated subjects exhibit different mutational spectrums in head and neck squamous cell carcinoma.

3 Biotech

Rawal, Rakesh M RM; Joshi, Madhvi N MN; Bhargava, Poonam P; Shaikh, Inayat I; Pandit, Aanal S AS; Patel, Riddhi P RP; Patel, Shanaya S; Kothari, Kiran K; Shah, Manoj M; Saxena, Akshay A; Bagatharia, Snehal B SB

Publication Date: 2015-10

Variant appearance in text: TP53: R209Q

PubMed Link: 28324520

Variant Present in the following documents:

• Main text
• 13205_2014_267_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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Targeted exome sequencing reveals distinct pathogenic variants in Iranians with colorectal cancer.

Oncotarget

Ashktorab, Hassan H; Mokarram, Pooneh P; Azimi, Hamed H; Olumi, Hasti H; Varma, Sudhir S; Nickerson, Michael L ML; Brim, Hassan H

Publication Date: 2017-01-31

Variant appearance in text: TP53: R209Q

PubMed Link: 28002797

Variant Present in the following documents:

• oncotarget-08-7852-s002.xlsx, sheet 1

View BVdb publication page

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Genes involved in angiogenesis and mTOR pathways are frequently mutated in Asian patients with pancreatic neuroendocrine tumors.

International Journal Of Biological Sciences

Chou, Wen-Chi WC; Lin, Po-Han PH; Yeh, Yi-Chen YC; Shyr, Yi-Ming YM; Fang, Wen-Liang WL; Wang, Shin-E SE; Liu, Chun-Yu CY; Chang, Peter Mu-Hsin PM; Chen, Ming-Han MH; Hung, Yi-Ping YP; Li, Chung-Pin CP; Chao, Yee Y; Chen, Ming-Huang MH

Publication Date: 2016

Variant appearance in text: TP53: R209Q

PubMed Link: 27994516

Variant Present in the following documents:

• ijbsv12p1523s1.xls, sheet 1
• ijbsv12p1523s2.pdf

View BVdb publication page

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Clonal Evolutionary Analysis during HER2 Blockade in HER2-Positive Inflammatory Breast Cancer: A Phase II Open-Label Clinical Trial of Afatinib +/- Vinorelbine.

Plos Medicine

Goh, Gerald G; Schmid, Ramona R; Guiver, Kelly K; Arpornwirat, Wichit W; Chitapanarux, Imjai I; Ganju, Vinod V; Im, Seock-Ah SA; Kim, Sung-Bae SB; Dechaphunkul, Arunee A; Maneechavakajorn, Jedzada J; Spector, Neil N; Yau, Thomas T; Afrit, Mehdi M; Ahmed, Slim Ben SB; Johnston, Stephen R SR; Gibson, Neil N; Uttenreuther-Fischer, Martina M; Herrero, Javier J; Swanton, Charles C

Publication Date: 2016-12

Variant appearance in text: TP53: R209Q

PubMed Link: 27923043

Variant Present in the following documents:

• pmed.1002136.s022.xlsx, sheet 1
• pmed.1002136.s018.xlsx, sheet 1

View BVdb publication page

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Type II enteropathy-associated T-cell lymphoma features a unique genomic profile with highly recurrent SETD2 alterations.

Nature Communications

Roberti, Annalisa A; Dobay, Maria Pamela MP; Bisig, Bettina B; Vallois, David D; Boéchat, Cloé C; Lanitis, Evripidis E; Bouchindhomme, Brigitte B; Parrens, Marie-Cécile MC; Bossard, Céline C; Quintanilla-Martinez, Leticia L; Missiaglia, Edoardo E; Gaulard, Philippe P; de Leval, Laurence L

Publication Date: 2016-09-07

Variant appearance in text: TP53: R209Q

PubMed Link: 27600764

Variant Present in the following documents:

• ncomms12602-s2.xlsx, sheet 1

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A Size-Selective Intracellular Delivery Platform.

Small (Weinheim An Der Bergstrasse, Germany)

Saung, May Tun MT; Sharei, Armon A; Adalsteinsson, Viktor A VA; Cho, Nahyun N; Kamath, Tushar T; Ruiz, Camilo C; Kirkpatrick, Jesse J; Patel, Nehal N; Mino-Kenudson, Mari M; Thayer, Sarah P SP; Langer, Robert R; Jensen, Klavs F KF; Liss, Andrew S AS; Love, J Christopher JC

Publication Date: 2016-11

Variant appearance in text: TP53: R209Q

PubMed Link: 27594517

Variant Present in the following documents:

• Main text

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Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One

Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH

Publication Date: 2015

Variant appearance in text: TP53: R209Q

PubMed Link: 26670335

Variant Present in the following documents:

• pone.0144528.s005.xlsx, sheet 1

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Circulating tumor DNA identified by targeted sequencing in advanced-stage non-small cell lung cancer patients.

Cancer Letters

Xu, Song S; Lou, Feng F; Wu, Yi Y; Sun, Da-Qiang DQ; Zhang, Jing-Bo JB; Chen, Wei W; Ye, Hua H; Liu, Jing-Hao JH; Wei, Sen S; Zhao, Ming-Yu MY; Wu, Wen-Jun WJ; Su, Xue-Xia XX; Shi, Rong R; Jones, Lindsey L; Huang, Xue F XF; Chen, Si-Yi SY; Chen, Jun J

Publication Date: 2016-01-28

Variant appearance in text: TP53: R209Q

PubMed Link: 26582655

Variant Present in the following documents:

• Main text

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Development and Characterization of Bladder Cancer Patient-Derived Xenografts for Molecularly Guided Targeted Therapy.

Plos One

Pan, Chong-Xian CX; Zhang, Hongyong H; Tepper, Clifford G CG; Lin, Tzu-yin TY; Davis, Ryan R RR; Keck, James J; Ghosh, Paramita M PM; Gill, Parkash P; Airhart, Susan S; Bult, Carol C; Gandara, David R DR; Liu, Edison E; de Vere White, Ralph W RW

Publication Date: 2015

Variant appearance in text: TP53: R209Q

PubMed Link: 26270481

Variant Present in the following documents:

• pone.0134346.s008.xlsx, sheet 1
• pone.0134346.s006.xlsx, sheet 1

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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: TP53: R209Q

PubMed Link: 25917266

Variant Present in the following documents:

• leu2015107x5.xls, sheet 1

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An advanced preclinical mouse model for acute myeloid leukemia using patients' cells of various genetic subgroups and in vivo bioluminescence imaging.

Plos One

Vick, Binje B; Rothenberg, Maja M; Sandhöfer, Nadine N; Carlet, Michela M; Finkenzeller, Cornelia C; Krupka, Christina C; Grunert, Michaela M; Trumpp, Andreas A; Corbacioglu, Selim S; Ebinger, Martin M; André, Maya C MC; Hiddemann, Wolfgang W; Schneider, Stephanie S; Subklewe, Marion M; Metzeler, Klaus H KH; Spiekermann, Karsten K; Jeremias, Irmela I

Publication Date: 2015

Variant appearance in text: TP53: R209Q

PubMed Link: 25793878

Variant Present in the following documents:

• pone.0120925.s010.pdf

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Splicing mutation analysis reveals previously unrecognized pathways in lymph node-invasive breast cancer.

Scientific Reports

Dorman, Stephanie N SN; Viner, Coby C; Rogan, Peter K PK

Publication Date: 2014-11-14

Variant appearance in text: TP53: R209Q

PubMed Link: 25394353

Variant Present in the following documents:

• srep07063-s2.xls, sheet 2

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