Publications:

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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: 845G>A; Arg282Gln; rs730882008

PubMed Link: 36922933

Variant Present in the following documents:

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

View BVdb publication page

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Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications

Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G

Publication Date: 2023-03-11

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 36906579

Variant Present in the following documents:

• 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Liquid biopsy of cerebrospinal fluid enables selective profiling of glioma molecular subtypes at first clinical presentation.

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

Orzan, Francesca F; De Bacco, Francesca F; Lazzarini, Elisabetta E; Crisafulli, Giovanni G; Gasparini, Alessandra A; Dipasquale, Angelo A; Barault, Ludovic L; Macagno, Marco M; Persico, Pasquale P; Pessina, Federico F; Bono, Beatrice B; Giordano, Laura L; Zeppa, Pietro P; Melcarne, Antonio A; Cassoni, Paola P; Garbossa, Diego D; Santoro, Armando A; Comoglio, Paolo M PM; Indraccolo, Stefano S; Simonelli, Matteo M; Boccaccio, Carla C

Publication Date: 2023-01-17

Variant appearance in text: TP53: 845G>A; R282Q

PubMed Link: 36648487

Variant Present in the following documents:

• ccr-22-2903_supplementary_data_2_suppds2.xlsx, sheet 3

View BVdb publication page

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Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics

G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A

Publication Date: 2022

Variant appearance in text: TP53: R282Q

PubMed Link: 36561320

Variant Present in the following documents:

• Table3.xlsx, sheet 1
• Table2.xlsx, sheet 7

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: R282Q

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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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: 845G>A; Arg282Gln; rs730882008

PubMed Link: 36353970

Variant Present in the following documents:

• CGE-103-247-s001.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: 845G>A; R282Q

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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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: TP53: Arg282Gln

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

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: 845G>A

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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A phase II trial of regorafenib in patients with advanced Ewing sarcoma and related tumors of soft tissue and bone: SARC024 trial results.

Cancer Medicine

Attia, Steven S; Bolejack, Vanessa V; Ganjoo, Kristen N KN; George, Suzanne S; Agulnik, Mark M; Rushing, Daniel D; Loggers, Elizabeth T ET; Livingston, Michael B MB; Wright, Jennifer J; Chawla, Sant P SP; Okuno, Scott H SH; Reinke, Denise K DK; Riedel, Richard F RF; Davis, Lara E LE; Ryan, Christopher W CW; Maki, Robert G RG

Publication Date: 2022-08-10

Variant appearance in text: TP53: R282Q

PubMed Link: 35950293

Variant Present in the following documents:

• Main text
• CAM4-12-1532.pdf

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: R282Q

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: R282Q

PubMed Link: 35835912

Variant Present in the following documents:

• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
• 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Case Report: Successful Immunotherapy Improved the Prognosis of the Unfavorable Subset of Cancer of Unknown Primary.

Frontiers In Immunology

Mei, Jie J; Wang, Hao H; Fan, Honghong H; Ding, Junli J; Xu, Junying J

Publication Date: 2022

Variant appearance in text: TP53: 845G>A

PubMed Link: 35812375

Variant Present in the following documents:

• fimmu-13-900119.pdf

View BVdb publication page

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Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications

Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX

Publication Date: 2022-06-15

Variant appearance in text: TP53: R282Q

PubMed Link: 35705558

Variant Present in the following documents:

• 41467_2022_30496_MOESM2_ESM.xls, sheet 1

View BVdb publication page

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Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: TP53: 845G>A; Arg282Gln; rs730882008

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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Impact of p53 knockdown on protein dataset of HaCaT cells.

Data In Brief

Romashin, Daniil D DD; Rusanov, Alexander L AL; Kozhin, Peter M PM; Karagyaur, Maxim N MN; Tikhonova, Olga V OV; Zgoda, Victor G VG; Luzgina, Nataliya G NG

Publication Date: 2022-06

Variant appearance in text: p53: R282Q

PubMed Link: 35647242

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA).

Orphanet Journal Of Rare Diseases

Schuermans, Nika N; Hemelsoet, Dimitri D; Terryn, Wim W; Steyaert, Sanne S; Van Coster, Rudy R; Coucke, Paul J PJ; Steyaert, Wouter W; Callewaert, Bert B; Bogaert, Elke E; Verloo, Patrick P; Vanlander, Arnaud V AV; Debackere, Elke E; Ghijsels, Jody J; LeBlanc, Pontus P; Verdin, Hannah H; Naesens, Leslie L; Haerynck, Filomeen F; Callens, Steven S; Dermaut, Bart B; Poppe, Bruce B; ,

Publication Date: 2022-05-23

Variant appearance in text: TP53: Arg282Gln

PubMed Link: 35606766

Variant Present in the following documents:

• Main text
• 13023_2022_Article_2365.pdf

View BVdb publication page

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Aberrantly Activated APOBEC3B Is Associated With Mutant p53-Driven Refractory/Relapsed Diffuse Large B-Cell Lymphoma.

Frontiers In Immunology

Zhang, Xuzhao X; Wu, Zhaoxing Z; Hao, Yuanyuan Y; Yu, Teng T; Li, Xian X; Liang, Yun Y; Li, Jinfan J; Huang, Liansheng L; Xu, Yang Y; Li, Xiuzhen X; Xu, Xiaohua X; Wang, Weiqin W; Xu, Genbo G; Zhang, Xiaohong X; Lv, Qinghua Q; Fang, Yongming Y; Xu, Rongzhen R; Qian, Wenbin W

Publication Date: 2022

Variant appearance in text: p53: R282Q

PubMed Link: 35592333

Variant Present in the following documents:

• Main text
• fimmu-13-888250.pdf

View BVdb publication page

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Genetic Profiling of Colorectal Carcinomas of Patients with Primary Sclerosing Cholangitis and Inflammatory Bowel Disease.

Inflammatory Bowel Diseases

de Krijger, Manon M; Carvalho, Beatriz B; Rausch, Christian C; Bolijn, Anne S AS; Delis-van Diemen, Pien M PM; Tijssen, Marianne M; van Engeland, Manon M; Mostafavi, Nahid N; Bogie, Roel M M RMM; Dekker, Evelien E; Masclee, Ad A M AAM; Verheij, Joanne J; Meijer, Gerrit A GA; Ponsioen, Cyriel Y CY

Publication Date: 2022-09-01

Variant appearance in text: TP53: Arg282Gln

PubMed Link: 35554535

Variant Present in the following documents:

• Main text
• izac087_suppl_supplementary_material.pdf
• izac087.pdf

View BVdb publication page

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The dominant TP53 hotspot mutation in -mutant astrocytoma, R273C, has distinctive pathologic features and sex-specific prognostic implications.

Neuro-Oncology Advances

Marker, Daniel F DF; Agnihotri, Sameer S; Amankulor, Nduka N; Murdoch, Geoffrey H GH; Pearce, Thomas M TM

Publication Date: 2022

Variant appearance in text: TP53: 845G>A; R282Q

PubMed Link: 35047821

Variant Present in the following documents:

• vdab182_suppl_supplementary_table_s1.xlsx, sheet 1
• vdab182_suppl_supplementary_table_s1.xlsx, sheet 3

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: TP53: 845G>A; Arg282Gln; rs730882008

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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IDH-wild type glioblastomas featuring at least 30% giant cells are characterized by frequent RB1 and NF1 alterations and hypermutation.

Acta Neuropathologica Communications

Barresi, Valeria V; Simbolo, Michele M; Mafficini, Andrea A; Martini, Maurizio M; Calicchia, Martina M; Piredda, Maria Liliana ML; Ciaparrone, Chiara C; Bonizzato, Giada G; Ammendola, Serena S; Caffo, Maria M; Pinna, Giampietro G; Sala, Francesco F; Lawlor, Rita Teresa RT; Ghimenton, Claudio C; Scarpa, Aldo A

Publication Date: 2021-12-24

Variant appearance in text: TP53: 845G>A; Arg282Gln; rs730882008

PubMed Link: 34952640

Variant Present in the following documents:

• 40478_2021_1304_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation

Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL

Publication Date: 2022-08

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 34923710

Variant Present in the following documents:

• HUMU-43-1114-s002.xlsx, sheet 1

View BVdb publication page

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Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Scientific Reports

Bastos-Oreiro, Mariana M; Suárez-González, Julia J; Andrés-Zayas, Cristina C; Carrión, Natalia Carolina NC; Moreno, Solsiré S; Carbonell, Diego D; Chicano, María M; Muñiz, Paula P; Sanz, Laura L; Diaz-Crespo, Francisco Javier FJ; Menarguez, Javier J; Diez-Martín, José Luis JL; Buño, Ismael I; Martínez-Laperche, Carolina C

Publication Date: 2021-11-24

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 34819573

Variant Present in the following documents:

• 41598_2021_2362_MOESM10_ESM.xlsx, sheet 2

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: R282Q

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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Association between 15 known or potential breast cancer susceptibility genes and breast cancer risks in Chinese women.

Cancer Biology & Medicine

Fu, Fenfen F; Zhang, Dongjie D; Hu, Li L; Sundaram, Senthil S; Ying, Dingge D; Zhang, Ying Y; Fu, Shuna S; Zhang, Juan J; Yao, Lu L; Xu, Ye Y; Xie, Yuntao Y

Publication Date: 2021-10-05

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 34606182

Variant Present in the following documents:

• cbm-19-253-s001.pdf

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: TP53: 845G>A; R282Q

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances

Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D

Publication Date: 2021-11-23

Variant appearance in text: TP53: 845G>A; R282Q

PubMed Link: 34500472

Variant Present in the following documents:

• advancesADV2021004528-suppl2.xlsx, sheet 7

View BVdb publication page

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Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine

Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL

Publication Date: 2021-08-18

Variant appearance in text: TP53: 845G>A; Arg282His

PubMed Link: 34404389

Variant Present in the following documents:

• 12916_2021_1999_MOESM2_ESM.pdf

View BVdb publication page

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Structural and Drug Targeting Insights on Mutant p53.

Cancers

Gomes, Ana Sara AS; Ramos, Helena H; Inga, Alberto A; Sousa, Emília E; Saraiva, Lucília L

Publication Date: 2021-07-03

Variant appearance in text: p53: R282Q

PubMed Link: 34283062

Variant Present in the following documents:

• Main text
• cancers-13-03344.pdf

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: 845G>A; R282Q

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6

View BVdb publication page

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Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology

Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S

Publication Date: 2021

Variant appearance in text: TP53: 845G>A; R282H

PubMed Link: 34221970

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment

Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA

Publication Date: 2021-07

Variant appearance in text: TP53: R282Q

PubMed Link: 34097174

Variant Present in the following documents:

• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
• 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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Pancreatic cancer prognosis is predicted by an ATAC-array technology for assessing chromatin accessibility.

Nature Communications

Dhara, S S; Chhangawala, S S; Chintalapudi, H H; Askan, G G; Aveson, V V; Massa, A L AL; Zhang, L L; Torres, D D; Makohon-Moore, A P AP; Lecomte, N N; Melchor, J P JP; Bermeo, J J; Cardenas, A A; Sinha, S S; Glassman, D D; Nicolle, R R; Moffitt, R R; Yu, K H KH; Leppanen, S S; Laderman, S S; Curry, B B; Gui, J J; Balachandran, V P VP; Iacobuzio-Donahue, C C; Chandwani, R R; Leslie, C S CS; Leach, S D SD

Publication Date: 2021-05-24

Variant appearance in text: TP53: R282Q

PubMed Link: 34031415

Variant Present in the following documents:

• 41467_2021_23237_MOESM15_ESM.xlsx, sheet 24
• 41467_2021_23237_MOESM1_ESM.pdf
• 41467_2021_23237_MOESM15_ESM.xlsx, sheet 14

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Higher Mutation Burden in High Proliferation Compartments of Heterogeneous Melanoma Tumors.

International Journal Of Molecular Sciences

Grzywa, Tomasz M TM; Koppolu, Agnieszka A AA; Paskal, Wiktor W; Klicka, Klaudia K; Rydzanicz, Małgorzata M; Wejman, Jarosław J; Płoski, Rafał R; Włodarski, Paweł K PK

Publication Date: 2021-04-09

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 33918692

Variant Present in the following documents:

• Main text

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: R282Q

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer

Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA

Publication Date: 2021-05

Variant appearance in text: TP53: 845G>A; R282Q

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: TP53: R282Q

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Scientific Reports

Au, K S KS; Hebert, L L; Hillman, P P; Baker, C C; Brown, M R MR; Kim, D-K DK; Soldano, K K; Garrett, M M; Ashley-Koch, A A; Lee, S S; Gleeson, J J; Hixson, J E JE; Morrison, A C AC; Northrup, H H

Publication Date: 2021-02-11

Variant appearance in text: TP53: R282Q; rs730882008

PubMed Link: 33574475

Variant Present in the following documents:

• 41598_2021_83058_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

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BRAF AMP Frequently Co-occurs With IDH1/2, TP53, and ATRX Mutations in Adult Patients With Gliomas and Is Associated With Poorer Survival Than That of Patients Harboring BRAF V600E.

Frontiers In Oncology

Da, Rong R; Wang, Maode M; Jiang, Haitao H; Wang, Tuo T; Wang, Wei W

Publication Date: 2020

Variant appearance in text: TP53: R282Q

PubMed Link: 33489866

Variant Present in the following documents:

• Table_1.xlsx, sheet 1

View BVdb publication page

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Zinc shapes the folding landscape of p53 and establishes a pathway for reactivating structurally diverse cancer mutants.

Elife

Blanden, Adam R AR; Yu, Xin X; Blayney, Alan J AJ; Demas, Christopher C; Ha, Jeung-Hoi JH; Liu, Yue Y; Withers, Tracy T; Carpizo, Darren R DR; Loh, Stewart N SN

Publication Date: 2020-12-02

Variant appearance in text: p53: R282Q

PubMed Link: 33263541

Variant Present in the following documents:

• Main text
• elife-61487.pdf

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs730882008

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: rs730882008

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4

View BVdb publication page

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Chaperones and Ubiquitin Ligases Balance Mutant p53 Protein Stability in Esophageal and Other Digestive Cancers.

Cellular And Molecular Gastroenterology And Hepatology

Martinho, May San MS; Nancarrow, Derek J DJ; Lawrence, Theodore S TS; Beer, David G DG; Ray, Dipankar D

Publication Date: 2021

Variant appearance in text: p53: R282Q

PubMed Link: 33130332

Variant Present in the following documents:

• Main text

View BVdb publication page

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Usefulness of a novel device to divide core needle biopsy specimens in a spatially matched fashion.

Scientific Reports

Shiraishi, Takumi T; Inui, Shogo S; Inoue, Yuta Y; Saito, Yumiko Y; Taga, Hideto H; Kaneko, Masatomo M; Tsuji, Keisuke K; Ueda, Saya S; Ueda, Takashi T; Matsugasumi, Toru T; Taniguchi, Hidefumi H; Ueno, Akihisa A; Yamada, Takeshi T; Yamada, Yasuhiro Y; Iwata, Tsuyoshi T; Fujihara, Atsuko A; Hongo, Fumiya F; Ukimura, Osamu O

Publication Date: 2020-10-13

Variant appearance in text: rs730882008

PubMed Link: 33051506

Variant Present in the following documents:

• 41598_2020_74136_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Gene Panel Tumor Testing in Ovarian Cancer Patients Significantly Increases the Yield of Clinically Actionable Germline Variants beyond BRCA1/BRCA2.

Cancers

Barbosa, Ana A; Pinto, Pedro P; Peixoto, Ana A; Guerra, Joana J; Pinto, Carla C; Santos, Catarina C; Pinheiro, Manuela M; Escudeiro, Carla C; Bartosch, Carla C; Silva, João J; Teixeira, Manuel R MR

Publication Date: 2020-09-30

Variant appearance in text: TP53: 845G>A; Arg282Gln

PubMed Link: 33008098

Variant Present in the following documents:

• Main text
• cancers-12-02834.pdf

View BVdb publication page

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Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: TP53: R282Q

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.

Cancers

Graziano, Francesco F; Fischer, Nicholas W NW; Bagaloni, Irene I; Di Bartolomeo, Maria M; Lonardi, Sara S; Vincenzi, Bruno B; Perrone, Giuseppe G; Fornaro, Lorenzo L; Ongaro, Elena E; Aprile, Giuseppe G; Bisonni, Renato R; Prisciandaro, Michele M; Malkin, David D; Gariépy, Jean J; Fassan, Matteo M; Loupakis, Fotios F; Sarti, Donatella D; Del Prete, Michela M; Catalano, Vincenzo V; Alessandroni, Paolo P; Magnani, Mauro M; Ruzzo, Annamaria A

Publication Date: 2020-07-24

Variant appearance in text: TP53: R282Q

PubMed Link: 32722340

Variant Present in the following documents:

• Main text
• cancers-12-02049.pdf

View BVdb publication page

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Tumorigenic p53 mutants undergo common structural disruptions including conversion to α-sheet structure.

Protein Science : A Publication Of The Protein Society

Bromley, Dennis D; Daggett, Valerie V

Publication Date: 2020-09

Variant appearance in text: p53: R282Q

PubMed Link: 32715544

Variant Present in the following documents:

• Main text

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: R282Q

PubMed Link: 32704382

Variant Present in the following documents:

• Main text
• 41421_2020_177_MOESM7_ESM.xlsx, sheet 1

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: R282Q

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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Quadruplicate Synchronous Adenocarcinoma of the Colon with Distant Metastases-Long-Term Molecular Follow-Up by KRAS and TP53 Mutational Profiling.

Diagnostics (Basel, Switzerland)

Bádon, Emese Sarolta ES; Mokánszki, Attila A; Mónus, Anikó A; András, Csilla C; Damjanovich, László L; Méhes, Gábor G

Publication Date: 2020-06-16

Variant appearance in text: p53: 845G>A

PubMed Link: 32560038

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of Altered Genes in Gallbladder Cancer as Potential Driver Mutations for Diagnostic and Prognostic Purposes: A Computational Approach.

Cancer Informatics

D'Afonseca, Vívian V; Arencibia, Ariel D AD; Echeverría-Vega, Alex A; Cerpa, Leslie L; Cayún, Juan P JP; Varela, Nelson M NM; Salazar, Marcela M; Quiñones, Luis A LA

Publication Date: 2020

Variant appearance in text: TP53: R282Q

PubMed Link: 32546937

Variant Present in the following documents:

• Main text
• 10.1177_1176935120922154.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: R282Q

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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Follow the Mutations: Toward Class-Specific, Small-Molecule Reactivation of p53.

Biomolecules

Loh, Stewart N SN

Publication Date: 2020-02-14

Variant appearance in text: p53: R282Q

PubMed Link: 32075132

Variant Present in the following documents:

• Main text
• biomolecules-10-00303.pdf

View BVdb publication page

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White blood cell and cell-free DNA analyses for detection of residual disease in gastric cancer.

Nature Communications

Leal, Alessandro A; van Grieken, Nicole C T NCT; Palsgrove, Doreen N DN; Phallen, Jillian J; Medina, Jamie E JE; Hruban, Carolyn C; Broeckaert, Mark A M MAM; Anagnostou, Valsamo V; Adleff, Vilmos V; Bruhm, Daniel C DC; Canzoniero, Jenna V JV; Fiksel, Jacob J; Nordsmark, Marianne M; Warmerdam, Fabienne A R M FARM; Verheul, Henk M W HMW; van Spronsen, Dick Johan DJ; Beerepoot, Laurens V LV; Geenen, Maud M MM; Portielje, Johanneke E A JEA; Jansen, Edwin P M EPM; van Sandick, Johanna J; Meershoek-Klein Kranenbarg, Elma E; van Laarhoven, Hanneke W M HWM; van der Peet, Donald L DL; van de Velde, Cornelis J H CJH; Verheij, Marcel M; Fijneman, Remond R; Scharpf, Robert B RB; Meijer, Gerrit A GA; Cats, Annemieke A; Velculescu, Victor E VE

Publication Date: 2020-01-27

Variant appearance in text: TP53: R282Q

PubMed Link: 31988276

Variant Present in the following documents:

• 41467_2020_14310_MOESM6_ESM.xlsx, sheet 8

View BVdb publication page

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