Publications:

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Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology

Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM

Publication Date: 2023

Variant appearance in text: p53: R337G

PubMed Link: 37007070

Variant Present in the following documents:

• fonc-13-1133363.pdf

View BVdb publication page

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Clinical impact of TP53 disruption in chronic lymphocytic leukemia patients treated with ibrutinib: a campus CLL study.

Leukemia

Bomben, Riccardo R; Rossi, Francesca Maria FM; Vit, Filippo F; Bittolo, Tamara T; Zucchetto, Antonella A; Papotti, Robel R; Tissino, Erika E; Pozzo, Federico F; Degan, Massimo M; Polesel, Jerry J; Bulian, Pietro P; Marasca, Roberto R; Reda, Gianluigi G; Laurenti, Luca L; Olivieri, Jacopo J; Chiarenza, Annalisa A; Laureana, Roberta R; Postorino, Massimiliano M; Del Principe, Maria Ilaria MI; Cuneo, Antonio A; Gentile, Massimo M; Morabito, Fortunato F; Fronza, Gilberto G; Tafuri, Agostino A; Zaja, Francesco F; Foà, Robin R; Di Raimondo, Francesco F; Del Poeta, Giovanni G; Gattei, Valter V

Publication Date: 2023-02-18

Variant appearance in text: TP53: 1009C>G; R337G

PubMed Link: 36807650

Variant Present in the following documents:

• 41375_2023_1845_MOESM1_ESM.pdf

View BVdb publication page

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ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics

Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G

Publication Date: 2023-01-03

Variant appearance in text: rs587782529

PubMed Link: 36595552

Variant Present in the following documents:

• pgen.1010563.s004.xlsx, sheet 1

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: rs587782529

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

View BVdb publication page

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Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology

Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W

Publication Date: 2022

Variant appearance in text: TP53: 1009C>G; Q337E

PubMed Link: 36238300

Variant Present in the following documents:

• Table_1.xlsx, sheet 4

View BVdb publication page

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EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine

Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W

Publication Date: 2022-09-19

Variant appearance in text: TP53: 1009C>G; Q337E

PubMed Link: 36123678

Variant Present in the following documents:

• 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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TP53 mutations in functional corticotroph tumors are linked to invasion and worse clinical outcome.

Acta Neuropathologica Communications

Perez-Rivas, Luis Gustavo LG; Simon, Julia J; Albani, Adriana A; Tang, Sicheng S; Roeber, Sigrun S; Assié, Guillaume G; Deutschbein, Timo T; Fassnacht, Martin M; Gadelha, Monica R MR; Hermus, Ad R AR; Stalla, Günter K GK; Tichomirowa, Maria A MA; Rotermund, Roman R; Flitsch, Jörg J; Buchfelder, Michael M; Nasi-Kordhishti, Isabella I; Honegger, Jürgen J; Thorsteinsdottir, Jun J; Saeger, Wolfgang W; Herms, Jochen J; Reincke, Martin M; Theodoropoulou, Marily M

Publication Date: 2022-09-19

Variant appearance in text: TP53: 1009C>G

PubMed Link: 36123588

Variant Present in the following documents:

• Main text
• 40478_2022_Article_1437.pdf
• 40478_2022_1437_MOESM1_ESM.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: 1009C>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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αβT- and B-cell-depleted HLA-haploidentical hematopoietic stem cell transplantation in children with myelodysplastic syndromes.

Haematologica

Merli, Pietro P; Pagliara, Daria D; Mina, Tommaso T; Bertaina, Valentina V; Li Pira, Giuseppina G; Lazzaro, Stefania S; Biagini, Simone S; Galaverna, Federica F; Strocchio, Luisa L; Carta, Roberto R; Catanoso, Maria Luigia ML; Quagliarella, Francesco F; Becilli, Marco M; Boccieri, Emilia E; Del Bufalo, Francesca F; Panigari, Arianna A; Agostini, Annalisa A; Pedace, Lucia L; Pizzi, Simone S; Perotti, Cesare C; Algeri, Mattia M; Zecca, Marco M; Locatelli, Franco F

Publication Date: 2022-12-01

Variant appearance in text: p53: R337G

PubMed Link: 36005558

Variant Present in the following documents:

• 2022_280698_MERLI_SUPPL.pdf

View BVdb publication page

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Spatially restricted drivers and transitional cell populations cooperate with the microenvironment in untreated and chemo-resistant pancreatic cancer.

Nature Genetics

Cui Zhou, Daniel D; Jayasinghe, Reyka G RG; Chen, Siqi S; Herndon, John M JM; Iglesia, Michael D MD; Navale, Pooja P; Wendl, Michael C MC; Caravan, Wagma W; Sato, Kazuhito K; Storrs, Erik E; Mo, Chia-Kuei CK; Liu, Jingxian J; Southard-Smith, Austin N AN; Wu, Yige Y; Naser Al Deen, Nataly N; Baer, John M JM; Fulton, Robert S RS; Wyczalkowski, Matthew A MA; Liu, Ruiyang R; Fronick, Catrina C CC; Fulton, Lucinda A LA; Shinkle, Andrew A; Thammavong, Lisa L; Zhu, Houxiang H; Sun, Hua H; Wang, Liang-Bo LB; Li, Yize Y; Zuo, Chong C; McMichael, Joshua F JF; Davies, Sherri R SR; Appelbaum, Elizabeth L EL; Robbins, Keenan J KJ; Chasnoff, Sara E SE; Yang, Xiaolu X; Reeb, Ashley N AN; Oh, Clara C; Serasanambati, Mamatha M; Lal, Preet P; Varghese, Rajees R; Mashl, Jay R JR; Ponce, Jennifer J; Terekhanova, Nadezhda V NV; Yao, Lijun L; Wang, Fang F; Chen, Lijun L; Schnaubelt, Michael M; Lu, Rita Jui-Hsien RJ; Schwarz, Julie K JK; Puram, Sidharth V SV; Kim, Albert H AH; Song, Sheng-Kwei SK; Shoghi, Kooresh I KI; Lau, Ken S KS; Ju, Tao T; Chen, Ken K; Chatterjee, Deyali D; Hawkins, William G WG; Zhang, Hui H; Achilefu, Samuel S; Chheda, Milan G MG; Oh, Stephen T ST; Gillanders, William E WE; Chen, Feng F; DeNardo, David G DG; Fields, Ryan C RC; Ding, Li L

Publication Date: 2022-09

Variant appearance in text: TP53: 1009C>G; Q337E

PubMed Link: 35995947

Variant Present in the following documents:

• 41588_2022_1157_MOESM4_ESM.xlsx, sheet 2

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: R337G

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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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: R337G

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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Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine

Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y

Publication Date: 2022-07

Variant appearance in text: TP53: 1009C>G; R337G

PubMed Link: 35393784

Variant Present in the following documents:

• CAM4-11-2767-s001.xlsx, sheet 1

View BVdb publication page

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Identification of a Novel Oncogenic Fusion Gene SPON1-TRIM29 in Clinical Ovarian Cancer That Promotes Cell and Tumor Growth and Enhances Chemoresistance in A2780 Cells.

International Journal Of Molecular Sciences

Nagasawa, Saya S; Ikeda, Kazuhiro K; Shintani, Daisuke D; Yang, Chiujung C; Takeda, Satoru S; Hasegawa, Kosei K; Horie, Kuniko K; Inoue, Satoshi S

Publication Date: 2022-01-08

Variant appearance in text: p53: R337G

PubMed Link: 35054873

Variant Present in the following documents:

• ijms-23-00689.pdf

View BVdb publication page

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Identification of a Novel Oncogenic Fusion Gene SPON1-TRIM29 in Clinical Ovarian Cancer That Promotes Cell and Tumor Growth and Enhances Chemoresistance in A2780 Cells.

International Journal Of Molecular Sciences

Nagasawa, Saya S; Ikeda, Kazuhiro K; Shintani, Daisuke D; Yang, Chiujung C; Takeda, Satoru S; Hasegawa, Kosei K; Horie, Kuniko K; Inoue, Satoshi S

Publication Date: 2022-01-08

Variant appearance in text: p53: R337G

PubMed Link: 35054873

Variant Present in the following documents:

• ijms-23-00689.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: 1009C>G; R337G

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
• 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
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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The Genomic Landscape of Actinic Keratosis.

The Journal Of Investigative Dermatology

Thomson, Jason J; Bewicke-Copley, Findlay F; Anene, Chinedu Anthony CA; Gulati, Abha A; Nagano, Ai A; Purdie, Karin K; Inman, Gareth J GJ; Proby, Charlotte M CM; Leigh, Irene M IM; Harwood, Catherine A CA; Wang, Jun J

Publication Date: 2021-07

Variant appearance in text: TP53: 1009C>G; R337G; rs587782529

PubMed Link: 33482222

Variant Present in the following documents:

• mmc1.xlsx, sheet 4

View BVdb publication page

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Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications

Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q

Publication Date: 2021-01-04

Variant appearance in text: TP53: 1009C>G; R337G

PubMed Link: 33397889

Variant Present in the following documents:

• 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1

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: R337G

PubMed Link: 33314633

Variant Present in the following documents:

• CAM4-10-53-s004.xlsx, sheet 1

View BVdb publication page

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Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer

Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F

Publication Date: 2020

Variant appearance in text: TP53: 1009C>G; R337G

PubMed Link: 33145402

Variant Present in the following documents:

• 41523_2020_201_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Pediatric Somatic Tumor Sequencing Identifies Underlying Cancer Predisposition.

Jco Precision Oncology

MacFarland, Suzanne P SP; Zelley, Kristin K; Surrey, Lea F LF; Gallo, Daniel D; Luo, Minjie M; Raman, Pichai P; Wertheim, Gerald G; Hunger, Stephen P SP; Li, Marilyn M MM; Brodeur, Garrett M GM

Publication Date: 2019

Variant appearance in text: TP53: 1009C>G; Arg337Gly

PubMed Link: 32783018

Variant Present in the following documents:

• Main text

View BVdb publication page

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From uncertainty to pathogenicity: clinical and functional interrogation of a rare TP53 in-frame deletion.

Cold Spring Harbor Molecular Case Studies

Quinn, Emily A EA; Maciaszek, Jamie L JL; Pinto, Emilia M EM; Phillips, Aaron H AH; Berdy, David D; Khandwala, Mohammad M; Upadhyaya, Santhosh A SA; Zambetti, Gerard P GP; Kriwacki, Richard W RW; Ellison, David W DW; Nichols, Kim E KE; Kesserwan, Chimene C

Publication Date: 2019-08

Variant appearance in text: TP53: 1009C>G; Arg337Gly

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

View BVdb publication page

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Secondary Germline Finding in Liquid Biopsy of a Deceased Patient; Case Report and Review of the Literature.

Frontiers In Oncology

Veyseh, Maedah M; Ricker, Charite C; Espenschied, Carin C; Raymond, Victoria V; D'Souza, Anishka A; Barzi, Afsaneh A

Publication Date: 2018

Variant appearance in text: TP53: R337G

PubMed Link: 30050867

Variant Present in the following documents:

• Main text
• fonc-08-00259.pdf

View BVdb publication page

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Mutational signatures reveal the dynamic interplay of risk factors and cellular processes during liver tumorigenesis.

Nature Communications

Letouzé, Eric E; Shinde, Jayendra J; Renault, Victor V; Couchy, Gabrielle G; Blanc, Jean-Frédéric JF; Tubacher, Emmanuel E; Bayard, Quentin Q; Bacq, Delphine D; Meyer, Vincent V; Semhoun, Jérémy J; Bioulac-Sage, Paulette P; Prévôt, Sophie S; Azoulay, Daniel D; Paradis, Valérie V; Imbeaud, Sandrine S; Deleuze, Jean-François JF; Zucman-Rossi, Jessica J

Publication Date: 2017-11-03

Variant appearance in text: TP53: R337G

PubMed Link: 29101368

Variant Present in the following documents:

• 41467_2017_1358_MOESM5_ESM.pdf

View BVdb publication page

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Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas.

Acta Neuropathologica Communications

Salloum, Ralph R; McConechy, Melissa K MK; Mikael, Leonie G LG; Fuller, Christine C; Drissi, Rachid R; DeWire, Mariko M; Nikbakht, Hamid H; De Jay, Nicolas N; Yang, Xiaodan X; Boue, Daniel D; Chow, Lionel M L LML; Finlay, Jonathan L JL; Gayden, Tenzin T; Karamchandani, Jason J; Hummel, Trent R TR; Olshefski, Randal R; Osorio, Diana S DS; Stevenson, Charles C; Kleinman, Claudia L CL; Majewski, Jacek J; Fouladi, Maryam M; Jabado, Nada N

Publication Date: 2017-10-30

Variant appearance in text: p53: R337G

PubMed Link: 29084603

Variant Present in the following documents:

• 40478_2017_479_MOESM2_ESM.xlsx, sheet 7

View BVdb publication page

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Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine

Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F

Publication Date: 2017-10-30

Variant appearance in text: TP53: 1009C>G; R337G

PubMed Link: 29082853

Variant Present in the following documents:

• 13073_2017_478_MOESM1_ESM.xlsx, sheet 2

View BVdb publication page

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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: R337G

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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High frequency of complex TP53 mutations in CNS metastases from breast cancer.

British Journal Of Cancer

Lo Nigro, C C; Vivenza, D D; Monteverde, M M; Lattanzio, L L; Gojis, O O; Garrone, O O; Comino, A A; Merlano, M M; Quinlan, P R PR; Syed, N N; Purdie, C A CA; Thompson, A A; Palmieri, C C; Crook, T T

Publication Date: 2012-01-17

Variant appearance in text: TP53: Arg337Gly

PubMed Link: 22187033

Variant Present in the following documents:

• Main text
• bjc2011464a.pdf

View BVdb publication page

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Molecular genetic analysis of 103 sporadic colorectal tumours in Czech patients.

Plos One

Vasovcak, Peter P; Pavlikova, Kristyna K; Sedlacek, Zdenek Z; Skapa, Petr P; Kouda, Martin M; Hoch, Jiri J; Krepelova, Anna A

Publication Date: 2011

Variant appearance in text: TP53: 1009C>G

PubMed Link: 21901162

Variant Present in the following documents:

• pone.0024114.s001.xls, sheet 1

View BVdb publication page

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