Publications:

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Germline TP53 mutations undergo copy number gain years prior to tumor diagnosis.

Nature Communications

Light, Nicholas N; Layeghifard, Mehdi M; Attery, Ayush A; Subasri, Vallijah V; Zatzman, Matthew M; Anderson, Nathaniel D ND; Hatkar, Rupal R; Blay, Sasha S; Chen, David D; Novokmet, Ana A; Fuligni, Fabio F; Tran, James J; de Borja, Richard R; Agarwal, Himanshi H; Waldman, Larissa L; Abegglen, Lisa M LM; Albertson, Daniel D; Finlay, Jonathan L JL; Hansford, Jordan R JR; Behjati, Sam S; Villani, Anita A; Gerstung, Moritz M; Alexandrov, Ludmil B LB; Somers, Gino R GR; Schiffman, Joshua D JD; Rotter, Varda V; Malkin, David D; Shlien, Adam A

Publication Date: 2023-01-05

Variant appearance in text: TP53: I332F

PubMed Link: 36604421

Variant Present in the following documents:

• 41467_2022_Article_35727.pdf

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Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications

Boström, Martin M; Larsson, Erik E

Publication Date: 2022-11-17

Variant appearance in text: TP53: I332F

PubMed Link: 36396655

Variant Present in the following documents:

• 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1

View BVdb publication page

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Spatially interacting phosphorylation sites and mutations in cancer.

Nature Communications

Huang, Kuan-Lin KL; Scott, Adam D AD; Zhou, Daniel Cui DC; Wang, Liang-Bo LB; Weerasinghe, Amila A; Elmas, Abdulkadir A; Liu, Ruiyang R; Wu, Yige Y; Wendl, Michael C MC; Wyczalkowski, Matthew A MA; Baral, Jessika J; Sengupta, Sohini S; Lai, Chin-Wen CW; Ruggles, Kelly K; Payne, Samuel H SH; Raphael, Benjamin B; Fenyö, David D; Chen, Ken K; Mills, Gordon G; Ding, Li L

Publication Date: 2021-04-19

Variant appearance in text: TP53: I332F

PubMed Link: 33875650

Variant Present in the following documents:

• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 1
• 41467_2021_22481_MOESM4_ESM.xlsx, sheet 6

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: TP53: I332F

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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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: 782+3466A>T; I332F

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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TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TP53: I332F

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.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: 994A>T; I332F

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Toward automation of germline variant curation in clinical cancer genetics.

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

Ravichandran, Vignesh V; Shameer, Zarina Z; Kemel, Yelena Y; Walsh, Michael M; Cadoo, Karen K; Lipkin, Steven S; Mandelker, Diana D; Zhang, Liying L; Stadler, Zsofia Z; Robson, Mark M; Offit, Kenneth K; Vijai, Joseph J

Publication Date: 2019-09

Variant appearance in text: TP53: 994A>T

PubMed Link: 30787465

Variant Present in the following documents:

• NIHMS1525468-supplement-Large_Excel_File.xlsx, sheet 7

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: I332F

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s5.xls, sheet 1

View BVdb publication page

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Germline Mutations in Predisposition Genes in Pediatric Cancer.

The New England Journal Of Medicine

Zhang, Jinghui J; Walsh, Michael F MF; Wu, Gang G; Edmonson, Michael N MN; Gruber, Tanja A TA; Easton, John J; Hedges, Dale D; Ma, Xiaotu X; Zhou, Xin X; Yergeau, Donald A DA; Wilkinson, Mark R MR; Vadodaria, Bhavin B; Chen, Xiang X; McGee, Rose B RB; Hines-Dowell, Stacy S; Nuccio, Regina R; Quinn, Emily E; Shurtleff, Sheila A SA; Rusch, Michael M; Patel, Aman A; Becksfort, Jared B JB; Wang, Shuoguo S; Weaver, Meaghann S MS; Ding, Li L; Mardis, Elaine R ER; Wilson, Richard K RK; Gajjar, Amar A; Ellison, David W DW; Pappo, Alberto S AS; Pui, Ching-Hon CH; Nichols, Kim E KE; Downing, James R JR

Publication Date: 2015-12-10

Variant appearance in text: TP53: I332F

PubMed Link: 26580448

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genomic landscape of paediatric adrenocortical tumours.

Nature Communications

Pinto, Emilia M EM; Chen, Xiang X; Easton, John J; Finkelstein, David D; Liu, Zhifa Z; Pounds, Stanley S; Rodriguez-Galindo, Carlos C; Lund, Troy C TC; Mardis, Elaine R ER; Wilson, Richard K RK; Boggs, Kristy K; Yergeau, Donald D; Cheng, Jinjun J; Mulder, Heather L HL; Manne, Jayanthi J; Jenkins, Jesse J; Mastellaro, Maria J MJ; Figueiredo, Bonald C BC; Dyer, Michael A MA; Pappo, Alberto A; Zhang, Jinghui J; Downing, James R JR; Ribeiro, Raul C RC; Zambetti, Gerard P GP

Publication Date: 2015-03-06

Variant appearance in text: TP53: I332F

PubMed Link: 25743702

Variant Present in the following documents:

• NIHMS656781-supplement-1.pdf

View BVdb publication page

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Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer

Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB

Publication Date: 2015-04-14

Variant appearance in text: p53: 994A>T

PubMed Link: 25742471

Variant Present in the following documents:

• bjc201580x7.xls, sheet 1

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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: I332F

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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Parallel analysis of tetramerization domain mutants of the human p53 protein using PCR colonies.

Genomic Medicine

Merritt, Joshua J; Roberts, Kim G KG; Butz, James A JA; Edwards, Jeremy S JS

Publication Date: 2007

Variant appearance in text: p53: Ile332Phe

PubMed Link: 18923936

Variant Present in the following documents:

• Main text

View BVdb publication page

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