Publications:

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Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications

Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W

Publication Date: 2023-06-12

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 37308490

Variant Present in the following documents:

• 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3

View BVdb publication page

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Nature

Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D

Publication Date: 2023-02-08

Variant appearance in text: TP53: 989T>G; Leu330Arg

PubMed Link: 36755093

Variant Present in the following documents:

• 41586_2022_5682_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Journal Of Oncology

Jin, Yan Y; Zhao, Xueke X; Song, Xin X; Wang, Ran R; Fan, Zongmin Z; Wang, Panpan P; Yang, Miaomiao M; Zhou, Fuyou F; Bao, Qide Q; Wang, Lidong L

Publication Date: 2023

Variant appearance in text: p53: L330R

PubMed Link: 36660245

Variant Present in the following documents:

• JO2023-3801526.pdf

View BVdb publication page

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An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology

Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y

Publication Date: 2022

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 36505399

Variant Present in the following documents:

• Table_2.xlsx, sheet 2

View BVdb publication page

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: L330R

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics

Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q

Publication Date: 2022-11-04

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 36333792

Variant Present in the following documents:

• 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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EV-ADD, a database for EV-associated DNA in human liquid biopsy samples.

Journal Of Extracellular Vesicles

Tsering, Thupten T; Li, Mingyang M; Chen, Yunxi Y; Nadeau, Amélie A; Laskaris, Alexander A; Abdouh, Mohamed M; Bustamante, Prisca P; Burnier, Julia V JV

Publication Date: 2022-10

Variant appearance in text: TP53: L330R

PubMed Link: 36271888

Variant Present in the following documents:

• JEV2-11-e12270-s002.xlsx, sheet 1

View BVdb publication page

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Genomic landscape of lung cancer in the young.

Frontiers In Oncology

Ruiz, Rossana R; Galvez-Nino, Marco M; Roque, Katia K; Montes, Jaime J; Nuñez, Maria M; Raez, Luis L; Sánchez-Gambetta, Sergio S; Jaúregui, Sandra S; Viale, Sandra S; Smith, Edward S ES; Pinto, Joseph A JA; Mas, Luis L

Publication Date: 2022

Variant appearance in text: TP53: L330R

PubMed Link: 36263208

Variant Present in the following documents:

• DataSheet_2.pdf

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 989T>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications

Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M

Publication Date: 2022-07-23

Variant appearance in text: TP53: L330R

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics

Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS

Publication Date: 2022-08

Variant appearance in text: TP53: L330R

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3

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: 989T>G; Leu330Arg

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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Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology

Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J

Publication Date: 2022

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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Evaluation of the Clinical Utility of Genomic Profiling to Inform Selection of Clinical Trial Therapy in Salivary Gland Cancer.

Cancers

Rack, Samuel S; Feeney, Laura L; Hapuarachi, Brindley B; Adderley, Helen H; Woodhouse, Laura L; Betts, Guy G; Burghel, George J GJ; Harrington, Kevin J KJ; Metcalf, Robert R

Publication Date: 2022-02-23

Variant appearance in text: TP53: 989T>G; Leu330Arg

PubMed Link: 35267442

Variant Present in the following documents:

• cancers-14-01133.pdf

View BVdb publication page

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Comparative Panel Sequencing of DNA Variants in cf-, ev- and tumorDNA for Pancreatic Ductal Adenocarcinoma Patients.

Cancers

Waldenmaier, Mareike M; Schulte, Lucas L; Schönfelder, Jonathan J; Fürstberger, Axel A; Kraus, Johann M JM; Daiss, Nora N; Seibold, Tanja T; Morawe, Mareen M; Ettrich, Thomas J TJ; Kestler, Hans A HA; Kahlert, Christoph C; Seufferlein, Thomas T; Eiseler, Tim T

Publication Date: 2022-02-21

Variant appearance in text: TP53: L330R

PubMed Link: 35205822

Variant Present in the following documents:

• cancers-14-01074.pdf

View BVdb publication page

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Proteogenomics of non-small cell lung cancer reveals molecular subtypes associated with specific therapeutic targets and immune evasion mechanisms.

Nature Cancer

Lehtiö, Janne J; Arslan, Taner T; Siavelis, Ioannis I; Pan, Yanbo Y; Socciarelli, Fabio F; Berkovska, Olena O; Umer, Husen M HM; Mermelekas, Georgios G; Pirmoradian, Mohammad M; Jönsson, Mats M; Brunnström, Hans H; Brustugun, Odd Terje OT; Purohit, Krishna Pinganksha KP; Cunningham, Richard R; Foroughi Asl, Hassan H; Isaksson, Sofi S; Arbajian, Elsa E; Aine, Mattias M; Karlsson, Anna A; Kotevska, Marija M; Gram Hansen, Carsten C; Drageset Haakensen, Vilde V; Helland, Åslaug Å; Tamborero, David D; Johansson, Henrik J HJ; Branca, Rui M RM; Planck, Maria M; Staaf, Johan J; Orre, Lukas M LM

Publication Date: 2021-11

Variant appearance in text: TP53: 989T>G; Leu330Arg

PubMed Link: 34870237

Variant Present in the following documents:

• EMS133264-supplement-Supplementary_Tables.xlsx, sheet 9

View BVdb publication page

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Diverse 'just-right' levels of chromosomal instability and their clinical implications in neoadjuvant treated gastric cancer.

British Journal Of Cancer

Kohlruss, Meike M; Krenauer, Marie M; Grosser, Bianca B; Pfarr, Nicole N; Jesinghaus, Moritz M; Slotta-Huspenina, Julia J; Novotny, Alexander A; Hapfelmeier, Alexander A; Schmidt, Thomas T; Steiger, Katja K; Gaida, Matthias M MM; Reiche, Magdalena M; Bauer, Lukas L; Ott, Katja K; Weichert, Wilko W; Keller, Gisela G

Publication Date: 2021-12

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 34671125

Variant Present in the following documents:

• 41416_2021_1587_MOESM1_ESM.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: L330R

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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p53/p73 Protein Network in Colorectal Cancer and Other Human Malignancies.

Cancers

Horvat, Anđela A; Tadijan, Ana A; Vlašić, Ignacija I; Slade, Neda N

Publication Date: 2021-06-09

Variant appearance in text: p53: L330R

PubMed Link: 34207603

Variant Present in the following documents:

• Main text
• cancers-13-02885.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: TP53: L330R

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9

View BVdb publication page

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Dissecting the role of TP53 alterations in del(11q) chronic lymphocytic leukemia.

Clinical And Translational Medicine

Quijada-Álamo, Miguel M; Pérez-Carretero, Claudia C; Hernández-Sánchez, María M; Rodríguez-Vicente, Ana-Eugenia AE; Herrero, Ana-Belén AB; Hernández-Sánchez, Jesús-María JM; Martín-Izquierdo, Marta M; Santos-Mínguez, Sandra S; Del Rey, Mónica M; González, Teresa T; Rubio-Martínez, Araceli A; García de Coca, Alfonso A; Dávila-Valls, Julio J; Hernández-Rivas, José-Ángel JÁ; Parker, Helen H; Strefford, Jonathan C JC; Benito, Rocío R; Ordóñez, José-Luis JL; Hernández-Rivas, Jesús-María JM

Publication Date: 2021-02

Variant appearance in text: TP53: L330R

PubMed Link: 33634999

Variant Present in the following documents:

• Main text

View BVdb publication page

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Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine

Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS

Publication Date: 2021-01

Variant appearance in text: TP53: L330R

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s003.xlsx, sheet 1

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

View BVdb publication page

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p53 tetramerization: at the center of the dominant-negative effect of mutant p53.

Genes & Development

Gencel-Augusto, Jovanka J; Lozano, Guillermina G

Publication Date: 2020-09-01

Variant appearance in text: p53: L330R

PubMed Link: 32873579

Variant Present in the following documents:

• Main text
• 1128.pdf

View BVdb publication page

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Epigenomic and genomic analysis of transcriptome modulation in skin cutaneous melanoma.

Aging

Chen, Wuzhen W; Cheng, Pu P; Jiang, Jingxin J; Ren, Yunqing Y; Wu, Dang D; Xue, Dan D

Publication Date: 2020-07-07

Variant appearance in text: TP53: 989T>G

PubMed Link: 32639949

Variant Present in the following documents:

• aging-12-103115-s013..xlsx, sheet 1

View BVdb publication page

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Transcriptional profiling reveals a subset of human breast tumors that retain wt TP53 but display mutant p53-associated features.

Molecular Oncology

Benor, Gal G; Fuks, Garold G; Chin, Suet-Feung SF; Rueda, Oscar M OM; Mukherjee, Saptaparna S; Arandkar, Sharathchandra S; Aylon, Yael Y; Caldas, Carlos C; Domany, Eytan E; Oren, Moshe M

Publication Date: 2020-08

Variant appearance in text: TP53: L330R

PubMed Link: 32484602

Variant Present in the following documents:

• MOL2-14-1640-s002.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TP53: L330R

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

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: TP53: 989T>G; L330R

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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NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology

Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S

Publication Date: 2020-03

Variant appearance in text: TP53: L330R

PubMed Link: 31854063

Variant Present in the following documents:

• MOL2-14-504-s010.xlsx, sheet 1

View BVdb publication page

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Synergistic effects of PRIMA-1Met (APR-246) and 5-azacitidine in TP53-mutated myelodysplastic syndromes and acute myeloid leukemia.

Haematologica

Maslah, Nabih N; Salomao, Norman N; Drevon, Louis L; Verger, Emmanuelle E; Partouche, Nicolas N; Ly, Pierre P; Aubin, Philippe P; Naoui, Nadia N; Schlageter, Marie-Helene MH; Bally, Cecile C; Miekoutima, Elsa E; Rahmé, Ramy R; Lehmann-Che, Jacqueline J; Ades, Lionel L; Fenaux, Pierre P; Cassinat, Bruno B; Giraudier, Stephane S

Publication Date: 2020-06

Variant appearance in text: TP53: L330R

PubMed Link: 31488557

Variant Present in the following documents:

• 1051539.pdf

View BVdb publication page

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The lncRNA SLNCR Recruits the Androgen Receptor to EGR1-Bound Genes in Melanoma and Inhibits Expression of Tumor Suppressor p21.

Cell Reports

Schmidt, Karyn K; Carroll, Johanna S JS; Yee, Elaine E; Thomas, Dolly D DD; Wert-Lamas, Leon L; Neier, Steven C SC; Sheynkman, Gloria G; Ritz, Justin J; Novina, Carl D CD

Publication Date: 2019-05-21

Variant appearance in text: TP53: L330R

PubMed Link: 31116991

Variant Present in the following documents:

• NIHMS1530019-supplement-1.pdf
• NIHMS1530019-supplement-5.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: L330R

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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Integrative molecular profiling identifies a novel cluster of estrogen receptor-positive breast cancer in very young women.

Cancer Science

Park, Charny C; Yoon, Kyong-Ah KA; Kim, Jihyun J; Park, In Hae IH; Park, Soo Jin SJ; Kim, Min Kyeong MK; Jang, Wooyeong W; Cho, Soo Young SY; Park, Boyoung B; Kong, Sun-Young SY; Lee, Eun Sook ES

Publication Date: 2019-05

Variant appearance in text: p53: L330R

PubMed Link: 30811755

Variant Present in the following documents:

• CAS-110-1760-s002.xlsx, sheet 2

View BVdb publication page

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Characteristic gene alterations in primary gastrointestinal T- and NK-cell lymphomas.

Leukemia

Lee, Gunho G; Ryu, Hyang Joo HJ; Choi, Ji Woon JW; Kang, Hyundeok H; Yang, Woo Ick WI; Yang, In Seok IS; Seo, Mi-Kyoung MK; Kim, Sangwoo S; Yoon, Sun Och SO

Publication Date: 2019-07

Variant appearance in text: TP53: Leu330Arg

PubMed Link: 30675012

Variant Present in the following documents:

• 41375_2018_309_MOESM21_ESM.pdf

View BVdb publication page

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RGS7 is recurrently mutated in melanoma and promotes migration and invasion of human cancer cells.

Scientific Reports

Qutob, Nouar N; Masuho, Ikuo I; Alon, Michal M; Emmanuel, Rafi R; Cohen, Isadora I; Di Pizio, Antonella A; Madore, Jason J; Elkahloun, Abdel A; Ziv, Tamar T; Levy, Ronen R; Gartner, Jared J JJ; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Greenberg, Polina P; Brodezki, Alexandra A; Rosenberg, Steven A SA; Kosloff, Mickey M; Hayward, Nicholas K NK; Admon, Arie A; Niv, Masha Y MY; Scolyer, Richard A RA; Martemyanov, Kirill A KA; Samuels, Yardena Y

Publication Date: 2018-01-12

Variant appearance in text: TP53: L330R

PubMed Link: 29330521

Variant Present in the following documents:

• 41598_2017_18851_MOESM3_ESM.xlsx, sheet 1
• 41598_2017_18851_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identification of potentially oncogenic alterations from tumor-only samples reveals Fanconi anemia pathway mutations in bladder carcinomas.

Npj Genomic Medicine

Madubata, Chioma J CJ; Roshan-Ghias, Alireza A; Chu, Timothy T; Resnick, Samuel S; Zhao, Junfei J; Arnes, Luis L; Wang, Jiguang J; Rabadan, Raul R

Publication Date: 2017

Variant appearance in text: TP53: L330R

PubMed Link: 29263839

Variant Present in the following documents:

• 41525_2017_32_MOESM8_ESM.xlsx, sheet 6

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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NF1-mutated melanoma tumors harbor distinct clinical and biological characteristics.

Molecular Oncology

Cirenajwis, Helena H; Lauss, Martin M; Ekedahl, Henrik H; Törngren, Therese T; Kvist, Anders A; Saal, Lao H LH; Olsson, Håkan H; Staaf, Johan J; Carneiro, Ana A; Ingvar, Christian C; Harbst, Katja K; Hayward, Nicholas K NK; Jönsson, Göran G

Publication Date: 2017-04

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 28267273

Variant Present in the following documents:

• MOL2-11-438-s003.xls, sheet 1

View BVdb publication page

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Prediction and prioritization of neoantigens: integration of RNA sequencing data with whole-exome sequencing.

Cancer Science

Karasaki, Takahiro T; Nagayama, Kazuhiro K; Kuwano, Hideki H; Nitadori, Jun-Ichi JI; Sato, Masaaki M; Anraku, Masaki M; Hosoi, Akihiro A; Matsushita, Hirokazu H; Takazawa, Masaki M; Ohara, Osamu O; Nakajima, Jun J; Kakimi, Kazuhiro K

Publication Date: 2017-02

Variant appearance in text: TP53: L330R

PubMed Link: 27960040

Variant Present in the following documents:

• CAS-108-170-s006.xlsx, sheet 1
• CAS-108-170-s007.xlsx, sheet 1

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TP53: L330R

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, sheet 1

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: L330R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports

Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF

Publication Date: 2016-03-15

Variant appearance in text: TP53: L330R

PubMed Link: 26975833

Variant Present in the following documents:

• srep23167-s9.xls, sheet 1

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Microenvironmental Heterogeneity Parallels Breast Cancer Progression: A Histology-Genomic Integration Analysis.

Plos Medicine

Natrajan, Rachael R; Sailem, Heba H; Mardakheh, Faraz K FK; Arias Garcia, Mar M; Tape, Christopher J CJ; Dowsett, Mitch M; Bakal, Chris C; Yuan, Yinyin Y

Publication Date: 2016-02

Variant appearance in text: TP53: 989T>G; L330R

PubMed Link: 26881778

Variant Present in the following documents:

• pmed.1001961.s013.pdf

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Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics

Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y

Publication Date: 2015-12

Variant appearance in text: TP53: 989T>G

PubMed Link: 26502337

Variant Present in the following documents:

• NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
• NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: L330R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Protein domain-level landscape of cancer-type-specific somatic mutations.

Plos Computational Biology

Yang, Fan F; Petsalaki, Evangelia E; Rolland, Thomas T; Hill, David E DE; Vidal, Marc M; Roth, Frederick P FP

Publication Date: 2015-03

Variant appearance in text: TP53: L330R

PubMed Link: 25794154

Variant Present in the following documents:

• pcbi.1004147.s001.xlsx, sheet 1

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: L330R

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine.

Nature Medicine

Van Allen, Eliezer M EM; Wagle, Nikhil N; Stojanov, Petar P; Perrin, Danielle L DL; Cibulskis, Kristian K; Marlow, Sara S; Jane-Valbuena, Judit J; Friedrich, Dennis C DC; Kryukov, Gregory G; Carter, Scott L SL; McKenna, Aaron A; Sivachenko, Andrey A; Rosenberg, Mara M; Kiezun, Adam A; Voet, Douglas D; Lawrence, Michael M; Lichtenstein, Lee T LT; Gentry, Jeff G JG; Huang, Franklin W FW; Fostel, Jennifer J; Farlow, Deborah D; Barbie, David D; Gandhi, Leena L; Lander, Eric S ES; Gray, Stacy W SW; Joffe, Steven S; Janne, Pasi P; Garber, Judy J; MacConaill, Laura L; Lindeman, Neal N; Rollins, Barrett B; Kantoff, Philip P; Fisher, Sheila A SA; Gabriel, Stacey S; Getz, Gad G; Garraway, Levi A LA

Publication Date: 2014-06

Variant appearance in text: p53: L330R

PubMed Link: 24836576

Variant Present in the following documents:

• NIHMS531666-supplement-10.xlsx, sheet 1

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Tetramerization-defects of p53 result in aberrant ubiquitylation and transcriptional activity.

Molecular Oncology

Lang, Valérie V; Pallara, Chiara C; Zabala, Amaia A; Lobato-Gil, Sofia S; Lopitz-Otsoa, Fernando F; Farrás, Rosa R; Hjerpe, Roland R; Torres-Ramos, Monica M; Zabaleta, Lorea L; Blattner, Christine C; Hay, Ronald T RT; Barrio, Rosa R; Carracedo, Arkaitz A; Fernandez-Recio, Juan J; Rodríguez, Manuel S MS; Aillet, Fabienne F

Publication Date: 2014-07

Variant appearance in text: p53: L330R

PubMed Link: 24816189

Variant Present in the following documents:

• Main text

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: L330R

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Cancer-associated p53 tetramerization domain mutants: quantitative analysis reveals a low threshold for tumor suppressor inactivation.

The Journal Of Biological Chemistry

Kamada, Rui R; Nomura, Takao T; Anderson, Carl W CW; Sakaguchi, Kazuyasu K

Publication Date: 2011-01-07

Variant appearance in text: p53: L330R

PubMed Link: 20978130

Variant Present in the following documents:

• Main text

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Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Genomic Medicine

Merritt, Joshua J; Roberts, Kim G KG; Butz, James A JA; Edwards, Jeremy S JS

Publication Date: 2007

Variant appearance in text: p53: Leu330Arg

PubMed Link: 18923936

Variant Present in the following documents:

• Main text

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