Publications:

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Relapse timing is associated with distinct evolutionary dynamics in DLBCL.

Medrxiv : The Preprint Server For Health Sciences

Hilton, Laura K LK; Ngu, Henry S HS; Collinge, Brett B; Dreval, Kostiantyn K; Ben-Neriah, Susana S; Rushton, Christopher K CK; Wong, Jasper C H JCH; Cruz, Manuela M; Roth, Andrew A; Boyle, Merrill M; Meissner, Barbara B; Slack, Graham W GW; Farinha, Pedro P; Craig, Jeffrey W JW; Gerrie, Alina S AS; Freeman, Ciara L CL; Villa, Diego D; Crump, Michael M; Shepherd, Lois L; Hay, Annette E AE; Kuruvilla, John J; Savage, Kerry J KJ; Kridel, Robert R; Karsan, Aly A; Marra, Marco A MA; Sehn, Laurie H LH; Steidl, Christian C; Morin, Ryan D RD; Scott, David W DW

Publication Date: 2023-03-08

Variant appearance in text: TP53: L22=

PubMed Link: 36945587

Variant Present in the following documents:

• media-1.xlsx, sheet 14

View BVdb publication page

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Detection of germline variants in Brazilian breast cancer patients using multigene panel testing.

Scientific Reports

Guindalini, Rodrigo Santa Cruz RSC; Viana, Danilo Vilela DV; Kitajima, João Paulo Fumio Whitaker JPFW; Rocha, Vinícius Marques VM; López, Rossana Verónica Mendoza RVM; Zheng, Yonglan Y; Freitas, Érika É; Monteiro, Fabiola Paoli Mendes FPM; Valim, André A; Schlesinger, David D; Kok, Fernando F; Olopade, Olufunmilayo I OI; Folgueira, Maria Aparecida Azevedo Koike MAAK

Publication Date: 2022-03-09

Variant appearance in text: TP53: 66A>G

PubMed Link: 35264596

Variant Present in the following documents:

• 41598_2022_7383_MOESM3_ESM.xlsx, sheet 1

View BVdb publication page

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Deregulation of Ribosomal Proteins in Human Cancers.

Bioscience Reports

El Khoury, Wendy W; Nasr, Zeina Z

Publication Date: 2021-12-07

Variant appearance in text: p53: L22L

PubMed Link: 34873618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deregulation of ribosomal proteins in human cancers.

Bioscience Reports

El Khoury, Wendy W; Nasr, Zeina Z

Publication Date: 2021-12-22

Variant appearance in text: p53: L22L

PubMed Link: 34873618

Variant Present in the following documents:

• Main text

View BVdb publication page

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Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population.

Gigascience

Gaither, Jeffrey B S JBS; Lammi, Grant E GE; Li, James L JL; Gordon, David M DM; Kuck, Harkness C HC; Kelly, Benjamin J BJ; Fitch, James R JR; White, Peter P

Publication Date: 2021-04-05

Variant appearance in text: TP53: 66A>G; Leu22=; rs748527030

PubMed Link: 33822938

Variant Present in the following documents:

• Main text
• giab023_giga-d-20-00178_revision_2.pdf
• giab023.pdf
• giab023_giga-d-20-00178_revision_1.pdf

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Molecular and Biochemical Techniques for Deciphering p53-MDM2 Regulatory Mechanisms.

Biomolecules

Karakostis, Konstantinos K; López, Ignacio I; Peña-Balderas, Ana M AM; Fåhareus, Robin R; Olivares-Illana, Vanesa V

Publication Date: 2020-12-30

Variant appearance in text: p53: L22L

PubMed Link: 33396576

Variant Present in the following documents:

• Main text
• biomolecules-11-00036.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: rs748527030

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_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: rs748527030

PubMed Link: 33257846

Variant Present in the following documents:

• 41418_2020_672_MOESM3_ESM.xlsx, sheet 2

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: 66A>G; Leu22=

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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The p53 mRNA: an integral part of the cellular stress response.

Nucleic Acids Research

Haronikova, Lucia L; Olivares-Illana, Vanesa V; Wang, Lixiao L; Karakostis, Konstantinos K; Chen, Sa S; Fåhraeus, Robin R

Publication Date: 2019-04-23

Variant appearance in text: p53: L22L

PubMed Link: 30828720

Variant Present in the following documents:

• Main text
• gkz124.pdf

View BVdb publication page

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A single synonymous mutation determines the phosphorylation and stability of the nascent protein.

Journal Of Molecular Cell Biology

Karakostis, Konstantinos K; Vadivel Gnanasundram, Sivakumar S; López, Ignacio I; Thermou, Aikaterini A; Wang, Lixiao L; Nylander, Karin K; Olivares-Illana, Vanesa V; Fåhraeus, Robin R

Publication Date: 2019-03-01

Variant appearance in text: p53: L22L

PubMed Link: 30252118

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mutational processes shape the landscape of TP53 mutations in human cancer.

Nature Genetics

Giacomelli, Andrew O AO; Yang, Xiaoping X; Lintner, Robert E RE; McFarland, James M JM; Duby, Marc M; Kim, Jaegil J; Howard, Thomas P TP; Takeda, David Y DY; Ly, Seav Huong SH; Kim, Eejung E; Gannon, Hugh S HS; Hurhula, Brian B; Sharpe, Ted T; Goodale, Amy A; Fritchman, Briana B; Steelman, Scott S; Vazquez, Francisca F; Tsherniak, Aviad A; Aguirre, Andrew J AJ; Doench, John G JG; Piccioni, Federica F; Roberts, Charles W M CWM; Meyerson, Matthew M; Getz, Gad G; Johannessen, Cory M CM; Root, David E DE; Hahn, William C WC

Publication Date: 2018-10

Variant appearance in text: TP53: L22L

PubMed Link: 30224644

Variant Present in the following documents:

• NIHMS1501645-supplement-4.xlsx, sheet 1

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: 66A>G; Leu22=

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Proteome-wide Structural Analysis of PTM Hotspots Reveals Regulatory Elements Predicted to Impact Biological Function and Disease.

Molecular & Cellular Proteomics : Mcp

Torres, Matthew P MP; Dewhurst, Henry H; Sundararaman, Niveda N

Publication Date: 2016-11

Variant appearance in text: TP53: 66A>G

PubMed Link: 27697855

Variant Present in the following documents:

• 10.1074_M116.062331_mcp.M116.062331-3.xlsx, sheet 4

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The Role of Structural Elements of the 5'-Terminal Region of p53 mRNA in Translation under Stress Conditions Assayed by the Antisense Oligonucleotide Approach.

Plos One

Swiatkowska, Agata A; Zydowicz, Paulina P; Gorska, Agnieszka A; Suchacka, Julia J; Dutkiewicz, Mariola M; Ciesiołka, Jerzy J

Publication Date: 2015

Variant appearance in text: p53: L22L

PubMed Link: 26513723

Variant Present in the following documents:

• Main text
• pone.0141676.pdf

View BVdb publication page

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