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: rs879254066

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

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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: 134T>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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Characterization of neoantigen-specific T cells in cancer resistant to immune checkpoint therapies.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Shamin S; Simoni, Yannick Y; Zhuang, Summer S; Gabel, Austin A; Ma, Shaokang S; Chee, Jonathan J; Islas, Laura L; Cessna, Anthony A; Creaney, Jenette J; Bradley, Robert K RK; Redwood, Alec A; Robinson, Bruce W BW; Newell, Evan W EW

Publication Date: 2021-07-27

Variant appearance in text: p53: L45P

PubMed Link: 34285073

Variant Present in the following documents:

• pnas.2025570118.sd01.xlsx, sheet 1

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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: 134T>C; Leu45Pro

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

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Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications

Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG

Publication Date: 2020-07-30

Variant appearance in text: TP53: L45P

PubMed Link: 32732999

Variant Present in the following documents:

• 41467_2020_17659_MOESM3_ESM.xls, sheet 1

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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: L45P

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM4_ESM.xlsx, sheet 1

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The Quest for Improving Treatment of Cancer of Unknown Primary (CUP) Through Molecularly-Driven Treatments: A Systematic Review.

Frontiers In Oncology

Lombardo, Roberta R; Tosi, Federica F; Nocerino, Annunziata A; Bencardino, Katia K; Gambi, Valentina V; Ricotta, Riccardo R; Spina, Francesco F; Siena, Salvatore S; Sartore-Bianchi, Andrea A

Publication Date: 2020

Variant appearance in text: TP53: L45P

PubMed Link: 32457826

Variant Present in the following documents:

• Main text
• fonc-10-00533.pdf

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Genetic Basis of Extramedullary Plasmablastic Transformation of Multiple Myeloma.

The American Journal Of Surgical Pathology

Liu, Ying Y; Jelloul, Fatima F; Zhang, Yanming Y; Bhavsar, Tapan T; Ho, Caleb C; Rao, Mamta M; Lewis, Natasha E NE; Cimera, Robert R; Baik, Jeeyeon J; Sigler, Allison A; Sen, Filiz F; Yabe, Mariko M; Roshal, Mikhail M; Landgren, Ola O; Dogan, Ahmet A; Xiao, Wenbin W

Publication Date: 2020-06

Variant appearance in text: TP53: L45P

PubMed Link: 32118627

Variant Present in the following documents:

• Main text

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Development and validation of a targeted gene sequencing panel for application to disparate cancers.

Scientific Reports

McCabe, Mark J MJ; Gauthier, Marie-Emilie A MA; Chan, Chia-Ling CL; Thompson, Tanya J TJ; De Sousa, Sunita M C SMC; Puttick, Clare C; Grady, John P JP; Gayevskiy, Velimir V; Tao, Jiang J; Ying, Kevin K; Cipponi, Arcadi A; Deng, Niantao N; Swarbrick, Alex A; Thomas, Melissa L ML; Lord, Reginald V RV; Johns, Amber L AL; Kohonen-Corish, Maija M; O'Toole, Sandra A SA; Clark, Jonathan J; Mueller, Simon A SA; Gupta, Ruta R; McCormack, Ann I AI; Dinger, Marcel E ME; Cowley, Mark J MJ; ,

Publication Date: 2019-11-19

Variant appearance in text: TP53: 134T>C; L45P

PubMed Link: 31745186

Variant Present in the following documents:

• 41598_2019_52000_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Validation and Clinical Applications of a Comprehensive Next Generation Sequencing System for Molecular Characterization of Solid Cancer Tissues.

Frontiers In Molecular Biosciences

Dehghani, Mehdi M; Rosenblatt, Kevin P KP; Li, Lei L; Rakhade, Mrudula M; Amato, Robert J RJ

Publication Date: 2019

Variant appearance in text: TP53: Leu45Pro

PubMed Link: 31681791

Variant Present in the following documents:

• Data_Sheet_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: L45P

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

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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: 134T>C; Leu45Pro

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1

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Next generation sequencing of carcinoma of unknown primary reveals novel combinatorial strategies in a heterogeneous mutational landscape.

Oncoscience

Subbiah, Ishwaria M IM; Tsimberidou, Apostolia A; Subbiah, Vivek V; Janku, Filip F; Roy-Chowdhuri, Sinchita S; Hong, David S DS

Publication Date: 2017-05

Variant appearance in text: TP53: L45P

PubMed Link: 28781987

Variant Present in the following documents:

• Main text
• oncoscience-04-0047.pdf

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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: L45P

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

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A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: TP53: 134T>C; L45P

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

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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: L45P

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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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: L45P

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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