Publications:

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Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature

Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C

Publication Date: 2023-04-13

Variant appearance in text: TP53: P58R

PubMed Link: 37055640

Variant Present in the following documents:

• EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18

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: rs144386518

PubMed Link: 36561320

Variant Present in the following documents:

• Table2.xlsx, sheet 7

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: 173C>G

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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Integrated Genomic Analysis Identifies UBTF Tandem Duplications as a Recurrent Lesion in Pediatric Acute Myeloid Leukemia.

Blood Cancer Discovery

Umeda, Masayuki M; Ma, Jing J; Huang, Benjamin J BJ; Hagiwara, Kohei K; Westover, Tamara T; Abdelhamed, Sherif S; Barajas, Juan M JM; Thomas, Melvin E ME; Walsh, Michael P MP; Song, Guangchun G; Tian, Liqing L; Liu, Yanling Y; Chen, Xiaolong X; Kolekar, Pandurang P; Tran, Quang Q; Foy, Scott G SG; Maciaszek, Jamie L JL; Kleist, Andrew B AB; Leonti, Amanda R AR; Ju, Bengsheng B; Easton, John J; Wu, Huiyun H; Valentine, Virginia V; Valentine, Marcus B MB; Liu, Yen-Chun YC; Ries, Rhonda E RE; Smith, Jenny L JL; Parganas, Evan E; Iacobucci, Ilaria I; Hiltenbrand, Ryan R; Miller, Jonathan J; Myers, Jason R JR; Rampersaud, Evadnie E; Rahbarinia, Delaram D; Rusch, Michael M; Wu, Gang G; Inaba, Hiroto H; Wang, Yi-Cheng YC; Alonzo, Todd A TA; Downing, James R JR; Mullighan, Charles G CG; Pounds, Stanley S; Babu, M Madan MM; Zhang, Jinghui J; Rubnitz, Jeffrey E JE; Meshinchi, Soheil S; Ma, Xiaotu X; Klco, Jeffery M JM

Publication Date: 2022-05-05

Variant appearance in text: TP53: P58R

PubMed Link: 35176137

Variant Present in the following documents:

• bcd-21-0160_supplemental_tables_supp1-32.xlsx, sheet 18

View BVdb publication page

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TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics

Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S

Publication Date: 2022-03-10

Variant appearance in text: TP53: 173C>G; P58R; rs144386518

PubMed Link: 35043155

Variant Present in the following documents:

• Main text
• supplementary_figure_s4a_and_b_bbab524.pdf
• bbab524.pdf
• supplementary_information_bbab524.pdf
• supplementary_table_s7_bbab524.xlsx, sheet 2

View BVdb publication page

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Genotypic Characteristics of Hepatoblastoma as Detected by Next Generation Sequencing and Their Correlation With Clinical Efficacy.

Frontiers In Oncology

Hu, Huimin H; Zhang, Weiling W; Zhi, Tian T; Li, Jing J; Wen, Yuan Y; Li, Fan F; Mei, Yanyan Y; Huang, Dongsheng D

Publication Date: 2021

Variant appearance in text: TP53: 173C>G

PubMed Link: 34426785

Variant Present in the following documents:

• Main text

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: 173C>G; Pro58Arg; rs144386518

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8

View BVdb publication page

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TP53 Mutations as a Driver of Metastasis Signaling in Advanced Cancer Patients.

Cancers

Pandey, Ritu R; Johnson, Nathan N; Cooke, Laurence L; Johnson, Benny B; Chen, Yuliang Y; Pandey, Manjari M; Chandler, Jason J; Mahadevan, Daruka D

Publication Date: 2021-02-03

Variant appearance in text: TP53: P58R

PubMed Link: 33546249

Variant Present in the following documents:

• Main text
• cancers-13-00597.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: TP53: 173C>G

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2

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: TP53: 173C>G

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
• 41418_2020_672_MOESM5_ESM.xlsx, sheet 2

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: P58R

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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Landscape of Germline Mutations in DNA Repair Genes for Breast Cancer in Latin America: Opportunities for PARP-Like Inhibitors and Immunotherapy.

Genes

Urbina-Jara, Laura Keren LK; Rojas-Martinez, Augusto A; Martinez-Ledesma, Emmanuel E; Aguilar, Dione D; Villarreal-Garza, Cynthia C; Ortiz-Lopez, Rocio R

Publication Date: 2019-10-10

Variant appearance in text: TP53: 173C>G; rs144386518

PubMed Link: 31658756

Variant Present in the following documents:

• Main text
• genes-10-00786.pdf

View BVdb publication page

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: TP53: 173C>G; P58R

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Comprehensive genomic and immunological characterization of Chinese non-small cell lung cancer patients.

Nature Communications

Zhang, Xu-Chao XC; Wang, Jun J; Shao, Guo-Guang GG; Wang, Qun Q; Qu, Xiaotao X; Wang, Bo B; Moy, Christopher C; Fan, Yue Y; Albertyn, Zayed Z; Huang, Xiayu X; Zhang, Jingyu J; Qiu, Yang Y; Platero, Suso S; Lorenzi, Matthew V MV; Zudaire, Enrique E; Yang, Jennifer J; Cheng, Ying Y; Xu, Lin L; Wu, Yi-Long YL

Publication Date: 2019-04-16

Variant appearance in text: rs144386518

PubMed Link: 30992440

Variant Present in the following documents:

• 41467_2019_9762_MOESM13_ESM.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: 173C>G; Pro58Arg

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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A Bayesian framework for efficient and accurate variant prediction.

Plos One

Qian, Dajun D; Li, Shuwei S; Tian, Yuan Y; Clifford, Jacob W JW; Sarver, Brice A J BAJ; Pesaran, Tina T; Gau, Chia-Ling CL; Elliott, Aaron M AM; Lu, Hsiao-Mei HM; Black, Mary Helen MH

Publication Date: 2018

Variant appearance in text: TP53: 173C>G; P58R

PubMed Link: 30212499

Variant Present in the following documents:

• pone.0203553.s008.xlsx, sheet 2

View BVdb publication page

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Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine

DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN

Publication Date: 2017-09

Variant appearance in text: TP53: 173C>G; Pro58Arg; rs144386518

PubMed Link: 28944238

Variant Present in the following documents:

• MGG3-5-553-s002.xlsx, sheet 2

View BVdb publication page

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Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: TP53: 173C>G; Pro58Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: P58R

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Computational screening and molecular dynamic simulation of breast cancer associated deleterious non-synonymous single nucleotide polymorphisms in TP53 gene.

Plos One

Chitrala, Kumaraswamy Naidu KN; Yeguvapalli, Suneetha S

Publication Date: 2014

Variant appearance in text: TP53: P58R; rs144386518

PubMed Link: 25105660

Variant Present in the following documents:

• Main text
• pone.0104242.pdf

View BVdb publication page

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Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics

Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T

Publication Date: 2014-09

Variant appearance in text: rs144386518

PubMed Link: 25086664

Variant Present in the following documents:

• NIHMS612904-supplement-2.xlsx, sheet 8

View BVdb publication page

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Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Plos One

Bodian, Dale L DL; McCutcheon, Justine N JN; Kothiyal, Prachi P; Huddleston, Kathi C KC; Iyer, Ramaswamy K RK; Vockley, Joseph G JG; Niederhuber, John E JE

Publication Date: 2014

Variant appearance in text: TP53: P58R; rs144386518

PubMed Link: 24728327

Variant Present in the following documents:

• pone.0094554.s002.xlsx, sheet 1

View BVdb publication page

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