Publications:

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Diagnostic accuracy of mutational analysis along the Müllerian tract to detect ovarian cancer.

International Journal Of Gynecological Cancer : Official Journal Of The International Gynecological Cancer Society

van Bommel, Majke H D MHD; Pijnenborg, Johanna M A JMA; van der Putten, Louis J M LJM; Bulten, Johan J; Snijders, Marc P L M MPLM; Küsters-Vandevelde, Heidi V N HVN; Sweegers, Sanne S; Vos, M Caroline MC; Ligtenberg, Marjolein J L MJL; Eijkelenboom, Astrid A; de Hullu, Joanne A JA; Reijnen, Casper C

Publication Date: 2022-11-16

Variant appearance in text: TP53: 637_639delinsTGG

PubMed Link: 36384753

Variant Present in the following documents:

• ijgc-2022-003911supp001.pdf

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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: R213W

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1
• mmc5.xlsx, sheet 1

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Single-EV analysis (sEVA) of mutated proteins allows detection of stage 1 pancreatic cancer.

Science Advances

Ferguson, Scott S; Yang, Katherine S KS; Zelga, Piotr P; Liss, Andrew S AS; Carlson, Jonathan C T JCT; Del Castillo, Carlos Fernandez CF; Weissleder, Ralph R

Publication Date: 2022-04-22

Variant appearance in text: p53: R213W

PubMed Link: 35452280

Variant Present in the following documents:

• sciadv.abm3453_sm.pdf

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Molecular and functional profiling identifies therapeutically targetable vulnerabilities in plasmablastic lymphoma.

Nature Communications

Frontzek, Fabian F; Staiger, Annette M AM; Zapukhlyak, Myroslav M; Xu, Wendan W; Bonzheim, Irina I; Borgmann, Vanessa V; Sander, Philip P; Baptista, Maria Joao MJ; Heming, Jan-Niklas JN; Berning, Philipp P; Wullenkord, Ramona R; Erdmann, Tabea T; Lutz, Mathias M; Veratti, Pia P; Ehrenfeld, Sophia S; Wienand, Kirsty K; Horn, Heike H; Goodlad, John R JR; Wilson, Matthew R MR; Anagnostopoulos, Ioannis I; Lamping, Mario M; Gonzalez-Barca, Eva E; Climent, Fina F; Salar, Antonio A; Castellvi, Josep J; Abrisqueta, Pau P; Menarguez, Javier J; Aldamiz, Teresa T; Richter, Julia J; Klapper, Wolfram W; Tzankov, Alexandar A; Dirnhofer, Stefan S; Rosenwald, Andreas A; Mate, José Luis JL; Tapia, Gustavo G; Lenz, Peter P; Miething, Cornelius C; Hartmann, Wolfgang W; Chapuy, Björn B; Fend, Falko F; Ott, German G; Navarro, José-Tomas JT; Grau, Michael M; Lenz, Georg G

Publication Date: 2021-08-31

Variant appearance in text: TP53: 637_639delinsTGG

PubMed Link: 34465776

Variant Present in the following documents:

• 41467_2021_25405_MOESM9_ESM.xlsx, sheet 1

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The Mutational Landscape of Metastatic Castration-sensitive Prostate Cancer: The Spectrum Theory Revisited.

European Urology

Deek, Matthew P MP; Van der Eecken, Kim K; Phillips, Ryan R; Parikh, Neil R NR; Isaacsson Velho, Pedro P; Lotan, Tamara L TL; Kishan, Amar U AU; Maurer, Tobias T; , ; Boutros, Paul C PC; Hovens, Christopher C; Abramowtiz, Matthew M; Pollack, Alan A; Desai, Neil N; Stish, Bradley B; Feng, Felix Y FY; Eisenberger, Mario M; Carducci, Michael M; Pienta, Kenneth J KJ; Markowski, Mark M; Paller, Channing J CJ; Antonarakis, Emmanuel S ES; Berlin, Alejandro A; Ost, Piet P; Tran, Phuoc T PT

Publication Date: 2021-11

Variant appearance in text: TP53: R213W

PubMed Link: 33419682

Variant Present in the following documents:

• NIHMS1793749-supplement-20.xlsx, sheet 1

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Association of MicroRNA-21 with p53 at Mutant Sites R175H and R248Q, Clinicopathological Features, and Prognosis of NSCLC.

Molecular Therapy Oncolytics

Zhou, Yaodong Y; Guo, Dongdong D; Zhang, Yixin Y

Publication Date: 2020-12-16

Variant appearance in text: p53: R213W

PubMed Link: 33251333

Variant Present in the following documents:

• Main text
• main.pdf

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A pedigree-based prediction model identifies carriers of deleterious de novo mutations in families with Li-Fraumeni syndrome.

Genome Research

Gao, Fan F; Pan, Xuedong X; Dodd-Eaton, Elissa B EB; Recio, Carlos Vera CV; Montierth, Matthew D MD; Bojadzieva, Jasmina J; Mai, Phuong L PL; Zelley, Kristin K; Johnson, Valen E VE; Braun, Danielle D; Nichols, Kim E KE; Garber, Judy E JE; Savage, Sharon A SA; Strong, Louise C LC; Wang, Wenyi W

Publication Date: 2020-08

Variant appearance in text: TP53: R213W

PubMed Link: 32817165

Variant Present in the following documents:

• Main text

View BVdb publication page

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A step towards personalizing next line therapy for resected pancreatic and related cancer patients: A single institution's experience.

Surgical Oncology

Lowder, Cinthya Y CY; Dhir, Teena T; Goetz, Austin B AB; Thomsett, Henry L HL; Bender, Joseph J; Tatarian, Talar T; Madhavan, Subha S; Petricoin, Emanuel F EF; Blais, Edik E; Lavu, Harish H; Winter, Jordan M JM; Posey, James J; Brody, Jonathan R JR; Pishvaian, Michael J MJ; Yeo, Charles J CJ

Publication Date: 2020-06

Variant appearance in text: p53: R213W

PubMed Link: 32561076

Variant Present in the following documents:

• Main text
• nihms-1621334.pdf

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Phase and context shape the function of composite oncogenic mutations.

Nature

Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS

Publication Date: 2020-06

Variant appearance in text: TP53: R213W

PubMed Link: 32461694

Variant Present in the following documents:

• NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2

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Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer

Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A

Publication Date: 2020-04-07

Variant appearance in text: TP53: 637_639delinsTGG

PubMed Link: 32264863

Variant Present in the following documents:

• 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7

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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: R213W

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

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The landscape of somatic mutation in sporadic Chinese colorectal cancer.

Oncotarget

Liu, Zhe Z; Yang, Chao C; Li, Xiangchun X; Luo, Wen W; Roy, Bhaskar B; Xiong, Teng T; Zhang, Xiuqing X; Yang, Huanming H; Wang, Jian J; Ye, Zhenhao Z; Chen, Yang Y; Song, Jinghe J; Ma, Shuai S; Zhou, Yong Y; Yang, Min M; Fang, Xiaodong X; Du, Jie J

Publication Date: 2018-06-08

Variant appearance in text: TP53: R213W

PubMed Link: 29937994

Variant Present in the following documents:

• oncotarget-09-27412-s004.xlsx, sheet 1

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Distinct age-associated molecular profiles in acute myeloid leukemia defined by comprehensive clinical genomic profiling.

Oncotarget

Tarlock, Katherine K; Zhong, Shan S; He, Yuting Y; Ries, Rhonda R; Severson, Eric E; Bailey, Mark M; Morley, Samantha S; Balasubramanian, Sohail S; Erlich, Rachel R; Lipson, Doron D; Otto, Geoff A GA; Vergillo, Jo-Anne JA; Kolb, E Anders EA; Ross, Jeffrey S JS; Mughal, Tariq T; Stephens, Philip J PJ; Miller, Vincent V; Meshinchi, Soheil S; He, Jie J

Publication Date: 2018-05-29

Variant appearance in text: TP53: R213W

PubMed Link: 29899868

Variant Present in the following documents:

• oncotarget-09-26417-s005.xlsx, sheet 1

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Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia.

Nature Communications

Hirsch, Pierre P; Zhang, Yanyan Y; Tang, Ruoping R; Joulin, Virginie V; Boutroux, Hélène H; Pronier, Elodie E; Moatti, Hannah H; Flandrin, Pascale P; Marzac, Christophe C; Bories, Dominique D; Fava, Fanny F; Mokrani, Hayat H; Betems, Aline A; Lorre, Florence F; Favier, Rémi R; Féger, Frédéric F; Mohty, Mohamad M; Douay, Luc L; Legrand, Ollivier O; Bilhou-Nabera, Chrystèle C; Louache, Fawzia F; Delhommeau, François F

Publication Date: 2016-08-18

Variant appearance in text: TP53: R213W

PubMed Link: 27534895

Variant Present in the following documents:

• ncomms12475-s2.xlsx, 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: R213W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications

Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES

Publication Date: 2015-04-09

Variant appearance in text: p53: R213W

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, 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: R213W

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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Mutational profiling of kinases in glioblastoma.

Bmc Cancer

Bleeker, Fonnet E FE; Lamba, Simona S; Zanon, Carlo C; Molenaar, Remco J RJ; Hulsebos, Theo J M TJ; Troost, Dirk D; van Tilborg, Angela A AA; Vandertop, W Peter WP; Leenstra, Sieger S; van Noorden, Cornelis J F CJ; Bardelli, Alberto A

Publication Date: 2014-09-26

Variant appearance in text: TP53: R213W

PubMed Link: 25256166

Variant Present in the following documents:

• Main text
• 12885_2014_Article_4907.pdf

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Frequent inactivating mutations of STAG2 in bladder cancer are associated with low tumour grade and stage and inversely related to chromosomal copy number changes.

Human Molecular Genetics

Taylor, Claire F CF; Platt, Fiona M FM; Hurst, Carolyn D CD; Thygesen, Helene H HH; Knowles, Margaret A MA

Publication Date: 2014-04-15

Variant appearance in text: TP53: R213W

PubMed Link: 24270882

Variant Present in the following documents:

• supp_ddt589_ddt589supp_table1.pdf

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Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.

Plos One

Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P

Publication Date: 2011

Variant appearance in text: TP53: R213W

PubMed Link: 22216294

Variant Present in the following documents:

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