Publications:

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GENETIC SUBGROUPS INFORM ON PATHOBIOLOGY IN ADULT AND PEDIATRIC BURKITT LYMPHOMA.

Blood

Thomas, Nicole N; Dreval, Kostiantyn K; Gerhard, Daniela S DS; Hilton, Laura K LK; Abramson, Jeremy S JS; Barta, Stefan K SK; Bartlett, Nancy L NL; Bethony, Jeffrey J; Bhatia, Kishor K; Bowen, Jay J; Bryan, Anthony C AC; Cesarman, Ethel E; Casper, Corey C; Cruz, Manuela M; Dyer, Maureen M; Farinha, Pedro P; Gastier-Foster, Julie J; Gerrie, Alina S AS; Grande, Bruno B; Greiner, Timothy C TC; Griner, Nicholas N; Gross, Thomas G TG; Harris, Nancy Lee NL; Irvin, John D JD; Jaffe, Elaine S ES; Henry, David D; Huppi, Rebecca Liddell RL; Leal, Fabio E FE; Lee, Michael M; Martin, Jean Paul JP; Martin, Marie-Reine MR; Mbulaiteye, Sam M SM; Mitsuyasu, Ronald R; Morris, Vivian V; Mullighan, Charles G CG; Mungall, Andrew J AJ; Mungall, Karen K; Mutyaba, Innocent I; Nokta, Mostafa M; Namirembe, Constance C; Noy, Ariela A; Ogwang, Martin David MD; Omoding, Abrahams A; Orem, Jackson J; Ott, German G; Petrello, Hilary H; Pittaluga, Stefania S; Phelan, James D JD; Ramos, Juan Carlos JC; Ratner, Lee L; Reynolds, Steven J SJ; Rubinstein, Paul G PG; Sissolak, Gerhard G; Slack, Graham W GW; Soudi, Shaghayegh S; Swerdlow, Steven Howard SH; Traverse-Glehen, Alexandra A; Wilson, Wyndham W; Wong, Jasper Chun Hei JCH; Yarchoan, Robert R; ZenKlusen, Jean C JC; Marra, Marco A MA; Staudt, Louis M LM; Scott, David W DW; Morin, Ryan D RD

Publication Date: 2022-10-06

Variant appearance in text: TP53: 159G>T; Trp53Cys

PubMed Link: 36201743

Variant Present in the following documents:

• BLOOD_BLD-2022-016534-mmc1.xlsx, sheet 6

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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: 159G>T

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

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: 159G>T; W53C

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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The transcriptional landscape of Shh medulloblastoma.

Nature Communications

Skowron, Patryk P; Farooq, Hamza H; Cavalli, Florence M G FMG; Morrissy, A Sorana AS; Ly, Michelle M; Hendrikse, Liam D LD; Wang, Evan Y EY; Djambazian, Haig H; Zhu, Helen H; Mungall, Karen L KL; Trinh, Quang M QM; Zheng, Tina T; Dai, Shizhong S; Stucklin, Ana S Guerreiro ASG; Vladoiu, Maria C MC; Fong, Vernon V; Holgado, Borja L BL; Nor, Carolina C; Wu, Xiaochong X; Abd-Rabbo, Diala D; Bérubé, Pierre P; Wang, Yu Chang YC; Luu, Betty B; Suarez, Raul A RA; Rastan, Avesta A; Gillmor, Aaron H AH; Lee, John J Y JJY; Zhang, Xiao Yun XY; Daniels, Craig C; Dirks, Peter P; Malkin, David D; Bouffet, Eric E; Tabori, Uri U; Loukides, James J; Doz, François P FP; Bourdeaut, Franck F; Delattre, Olivier O OO; Masliah-Planchon, Julien J; Ayrault, Olivier O; Kim, Seung-Ki SK; Meyronet, David D; Grajkowska, Wieslawa A WA; Carlotti, Carlos G CG; de Torres, Carmen C; Mora, Jaume J; Eberhart, Charles G CG; Van Meir, Erwin G EG; Kumabe, Toshihiro T; French, Pim J PJ; Kros, Johan M JM; Jabado, Nada N; Lach, Boleslaw B; Pollack, Ian F IF; Hamilton, Ronald L RL; Rao, Amulya A Nageswara AAN; Giannini, Caterina C; Olson, James M JM; Bognár, László L; Klekner, Almos A; Zitterbart, Karel K; Phillips, Joanna J JJ; Thompson, Reid C RC; Cooper, Michael K MK; Rubin, Joshua B JB; Liau, Linda M LM; Garami, Miklós M; Hauser, Peter P; Li, Kay Ka Wai KKW; Ng, Ho-Keung HK; Poon, Wai Sang WS; Yancey Gillespie, G G; Chan, Jennifer A JA; Jung, Shin S; McLendon, Roger E RE; Thompson, Eric M EM; Zagzag, David D; Vibhakar, Rajeev R; Ra, Young Shin YS; Garre, Maria Luisa ML; Schüller, Ulrich U; Shofuda, Tomoko T; Faria, Claudia C CC; López-Aguilar, Enrique E; Zadeh, Gelareh G; Hui, Chi-Chung CC; Ramaswamy, Vijay V; Bailey, Swneke D SD; Jones, Steven J SJ; Mungall, Andrew J AJ; Moore, Richard A RA; Calarco, John A JA; Stein, Lincoln D LD; Bader, Gary D GD; Reimand, Jüri J; Ragoussis, Jiannis J; Weiss, William A WA; Marra, Marco A MA; Suzuki, Hiromichi H; Taylor, Michael D MD

Publication Date: 2021-03-19

Variant appearance in text: TP53: W53C

PubMed Link: 33741928

Variant Present in the following documents:

• 41467_2021_21883_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: W53C

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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Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc

Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ

Publication Date: 2019-10

Variant appearance in text: TP53: W53C

PubMed Link: 31028363

Variant Present in the following documents:

• NIHMS1525315-supplement-2.xlsx, sheet 1

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The Pattern of Signatures in Gastric Cancer Prognosis.

International Journal Of Molecular Sciences

Machlowska, Julita J; Maciejewski, Ryszard R; Sitarz, Robert R

Publication Date: 2018-06-04

Variant appearance in text: p53: 159G>T

PubMed Link: 29867026

Variant Present in the following documents:

• Main text
• ijms-19-01658.pdf

View BVdb publication page

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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: W53C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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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: W53C

PubMed Link: 25855536

Variant Present in the following documents:

• ncomms7744-s2.xlsx, sheet 1

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Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans.

Oncotarget

Xia, Yi Y; Fan, Lei L; Wang, Li L; Gale, Robert Peter RP; Wang, Man M; Tian, Tian T; Wu, Wei W; Yu, Liang L; Chen, Yao-Yu YY; Xu, Wei W; Li, Jian-Yong JY

Publication Date: 2015-03-10

Variant appearance in text: TP53: 159G>T; W53C

PubMed Link: 25605254

Variant Present in the following documents:

• oncotarget-06-5426-s001.pdf

View BVdb publication page

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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: W53C

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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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: W53C

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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