Publications:

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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: R202L

PubMed Link: 36561320

Variant Present in the following documents:

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

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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: 605G>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications

Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ

Publication Date: 2022-05-13

Variant appearance in text: p53: R202L

PubMed Link: 35562349

Variant Present in the following documents:

• 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1

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: 605G>T; Arg202Leu; rs587778719

PubMed Link: 34253785

Variant Present in the following documents:

• 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 5
• 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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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: 605G>T; R202L

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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

Nature Communications

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

Publication Date: 2021-02-10

Variant appearance in text: TP53: Arg202Leu

PubMed Link: 33568653

Variant Present in the following documents:

• 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene

Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S

Publication Date: 2020-04

Variant appearance in text: TP53: 605G>T; R202L

PubMed Link: 32055024

Variant Present in the following documents:

• 41388_2020_1198_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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BRAF Mutations and Dysregulation of the MAP Kinase Pathway Associated to Sinonasal Mucosal Melanomas.

Journal Of Clinical Medicine

Colombino, Maria M; Paliogiannis, Panagiotis P; Cossu, Antonio A; De Re, Valli V; Miolo, Gianmaria G; Botti, Gerardo G; Scognamiglio, Giosuè G; Ascierto, Paolo Antonio PA; Santeufemia, Davide Adriano DA; Fraggetta, Filippo F; Manca, Antonella A; Sini, Maria Cristina MC; Casula, Milena M; Palomba, Grazia G; Pisano, Marina M; Doneddu, Valentina V; Lissia, Amelia A; Fedeli, Maria Antonietta MA; Palmieri, Giuseppe G

Publication Date: 2019-10-01

Variant appearance in text: TP53: 605G>T; Arg202Leu

PubMed Link: 31581559

Variant Present in the following documents:

• jcm-08-01577-s001.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: R202L

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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: 605G>T; Arg202Leu

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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appreci8: a pipeline for precise variant calling integrating 8 tools.

Bioinformatics (Oxford, England)

Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M

Publication Date: 2018-12-15

Variant appearance in text: TP53: 605G>T; Arg202Leu

PubMed Link: 29945233

Variant Present in the following documents:

• bty518_supplementary_data_s4.xlsx, sheet 9
• bty518_supplementary_data_s3.xlsx, sheet 9

View BVdb publication page

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Targeted DNA sequencing of non-small cell lung cancer identifies mutations associated with brain metastases.

Oncotarget

Wilson, George D GD; Johnson, Matthew D MD; Ahmed, Samreen S; Cardenas, Paola Yumpo PY; Grills, Inga S IS; Thibodeau, Bryan J BJ

Publication Date: 2018-05-25

Variant appearance in text: TP53: 605G>T

PubMed Link: 29899834

Variant Present in the following documents:

• oncotarget-09-25957-s003.xlsx, sheet 1
• oncotarget-09-25957-s002.xlsx, sheet 1

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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: 605G>T; R202L

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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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: R202L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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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: R202L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Structure-based predictions broadly link transcription factor mutations to gene expression changes in cancers.

Nucleic Acids Research

Ashworth, Justin J; Bernard, Brady B; Reynolds, Sheila S; Plaisier, Christopher L CL; Shmulevich, Ilya I; Baliga, Nitin S NS

Publication Date: 2014-12-01

Variant appearance in text: p53: R202L

PubMed Link: 25378323

Variant Present in the following documents:

• Main text
• gku1031.pdf
• supp_gku1031_nar-02414-h-2014-File008.xlsx, sheet 1

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: R202L

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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Recurrent inactivation of STAG2 in bladder cancer is not associated with aneuploidy.

Nature Genetics

Balbás-Martínez, Cristina C; Sagrera, Ana A; Carrillo-de-Santa-Pau, Enrique E; Earl, Julie J; Márquez, Mirari M; Vazquez, Miguel M; Lapi, Eleonora E; Castro-Giner, Francesc F; Beltran, Sergi S; Bayés, Mònica M; Carrato, Alfredo A; Cigudosa, Juan C JC; Domínguez, Orlando O; Gut, Marta M; Herranz, Jesús J; Juanpere, Núria N; Kogevinas, Manolis M; Langa, Xavier X; López-Knowles, Elena E; Lorente, José A JA; Lloreta, Josep J; Pisano, David G DG; Richart, Laia L; Rico, Daniel D; Salgado, Rocío N RN; Tardón, Adonina A; Chanock, Stephen S; Heath, Simon S; Valencia, Alfonso A; Losada, Ana A; Gut, Ivo I; Malats, Núria N; Real, Francisco X FX

Publication Date: 2013-12

Variant appearance in text: TP53: R202L

PubMed Link: 24121791

Variant Present in the following documents:

• NIHMS525200-supplement-2.xls, sheet 1

View BVdb publication page

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Towards linked open gene mutations data.

Bmc Bioinformatics

Zappa, Achille A; Splendiani, Andrea A; Romano, Paolo P

Publication Date: 2012-03-28

Variant appearance in text: TP53: 605G>T

PubMed Link: 22536974

Variant Present in the following documents:

• Main text
• 1471-2105-13-S4-S7.pdf

View BVdb publication page

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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: R202L

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

View BVdb publication page

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Regulation of superoxide dismutase genes: implications in disease.

Free Radical Biology & Medicine

Miao, Lu L; St Clair, Daret K DK

Publication Date: 2009-08-15

Variant appearance in text: p53: Arg202Leu

PubMed Link: 19477268

Variant Present in the following documents:

• Main text

View BVdb publication page

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