Publications:

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Clinical sequencing identifies potential actionable alterations in a high rate of urachal and primary bladder adenocarcinomas.

Cancer Medicine

Varadi, Melinda M; Nagy, Nikolett N; Reis, Henning H; Hadaschik, Boris B; Niedworok, Christian C; Modos, Orsolya O; Szendroi, Attila A; Ablat, Jason J; Black, Peter C PC; Keresztes, David D; Csizmarik, Anita A; Olah, Csilla C; Gaisa, Nadine T NT; Kiss, Andras A; Timar, Jozsef J; Toth, Erika E; Csernak, Erzsebet E; Gerstner, Arpad A; Mittal, Vinay V; Karkampouna, Sofia S; Kruithof de Julio, Marianna M; Gyorffy, Balazs B; Bedics, Gabor G; Rink, Michael M; Fisch, Margit M; Nyirady, Peter P; Szarvas, Tibor T

Publication Date: 2023-01-20

Variant appearance in text: TP53: Arg209fs

PubMed Link: 36670542

Variant Present in the following documents:

• CAM4-12-9041-s001.xlsx, sheet 4
• CAM4-12-9041-s001.xlsx, sheet 3

View BVdb publication page

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A prognostic risk model for glioma patients by systematic evaluation of genomic variations.

Iscience

Zhang, Baifeng B; Wan, Weiqing W; Li, Zibo Z; Gao, Zhixian Z; Ji, Nan N; Xie, Jian J; Wang, Junmei J; Wang, Bin B; Lai-Wan Kwong, Dora D; Guan, Xinyuan X; Gao, Shengjie S; Zhao, Yuanli Y; Lu, Youyong Y; Zhang, Liwei L; Rodland, Karin D KD; Tsang, Shirley X SX

Publication Date: 2022-12-22

Variant appearance in text: TP53: R209fs

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

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Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation

Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB

Publication Date: 2022-07-01

Variant appearance in text: N/A

PubMed Link: 35775490

Variant Present in the following documents:

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: N/A

PubMed Link: 35140316

Variant Present in the following documents:

View BVdb publication page

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Co-occurrence CDK4/6 amplification serves as biomarkers of de novo EGFR TKI resistance in sensitizing EGFR mutation non-small cell lung cancer.

Scientific Reports

Sitthideatphaiboon, Piyada P; Teerapakpinyo, Chinachote C; Korphaisarn, Krittiya K; Leelayuwatanakul, Nophol N; Pornpatrananrak, Nopporn N; Poungvarin, Naravat N; Chantranuwat, Poonchavist P; Shuangshoti, Shanop S; Aporntewan, Chatchawit C; Chintanapakdee, Wariya W; Sriuranpong, Virote V; Vinayanuwattikun, Chanida C

Publication Date: 2022-02-09

Variant appearance in text: N/A

PubMed Link: 35140316

Variant Present in the following documents:

View BVdb publication page

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Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Signal Transduction And Targeted Therapy

Wang, Pingli P; Li, Yuping Y; Lv, Dongqing D; Yang, Lingge L; Ding, Liren L; Zhou, Jianya J; Hong, Wei W; Chen, Youfei Y; Zhang, Dongqing D; He, Susu S; Zhou, Jianying J; Wang, Kai K

Publication Date: 2021-11-01

Variant appearance in text: N/A

PubMed Link: 34719670

Variant Present in the following documents:

View BVdb publication page

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Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.

Npj Precision Oncology

Finkle, Justin D JD; Boulos, Hala H; Driessen, Terri M TM; Lo, Christine C; Blidner, Richard A RA; Hafez, Ashraf A; Khan, Aly A AA; Lozac'hmeur, Ariane A; McKinnon, Kelly E KE; Perera, Jason J; Zhu, Wei W; Dowlati, Afshin A; White, Kevin P KP; Tell, Robert R; Beaubier, Nike N

Publication Date: 2021-07-02

Variant appearance in text: N/A

PubMed Link: 34215841

Variant Present in the following documents:

View BVdb publication page

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CXCL10 potentiates immune checkpoint blockade therapy in homologous recombination-deficient tumors.

Theranostics

Shi, Zhiwen Z; Shen, Jianfeng J; Qiu, Junjun J; Zhao, Qingguo Q; Hua, Keqin K; Wang, Hongyan H

Publication Date: 2021

Variant appearance in text: N/A

PubMed Link: 34158843

Variant Present in the following documents:

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Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.

Jama Oncology

Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM

Publication Date: 2021-04-01

Variant appearance in text: N/A

PubMed Link: 33630025

Variant Present in the following documents:

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Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial.

Leukemia

Blakemore, Stuart J SJ; Clifford, Ruth R; Parker, Helen H; Antoniou, Pavlos P; Stec-Dziedzic, Ewa E; Larrayoz, Marta M; Davis, Zadie Z; Kadalyayil, Latha L; Colins, Andrew A; Robbe, Pauline P; Vavoulis, Dimitris D; Forster, Jade J; Carr, Louise L; Morilla, Ricardo R; Else, Monica M; Bryant, Dean D; McCarthy, Helen H; Walewska, Renata J RJ; Steele, Andrew J AJ; Chan, Jacqueline J; Speight, Graham G; Stankovic, Tanja T; Cragg, Mark S MS; Catovsky, Daniel D; Oscier, David G DG; Rose-Zerilli, Matthew J J MJJ; Schuh, Anna A; Strefford, Jonathan C JC

Publication Date: 2020-07

Variant appearance in text: N/A

PubMed Link: 32015491

Variant Present in the following documents:

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Stimulation of CRISPR-mediated homology-directed repair by an engineered RAD18 variant.

Nature Communications

Nambiar, Tarun S TS; Billon, Pierre P; Diedenhofen, Giacomo G; Hayward, Samuel B SB; Taglialatela, Angelo A; Cai, Kunheng K; Huang, Jen-Wei JW; Leuzzi, Giuseppe G; Cuella-Martin, Raquel R; Palacios, Andrew A; Gupta, Anuj A; Egli, Dieter D; Ciccia, Alberto A

Publication Date: 2019-07-30

Variant appearance in text: TP53: Arg209fs

PubMed Link: 31363085

Variant Present in the following documents:

• Main text
• 41467_2019_Article_11105.pdf

View BVdb publication page

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The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications

Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ

Publication Date: 2018-09-04

Variant appearance in text: TP53: R209fs

PubMed Link: 30181556

Variant Present in the following documents:

• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 8
• 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12

View BVdb publication page

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Organoid Models of Human Liver Cancers Derived from Tumor Needle Biopsies.

Cell Reports

Nuciforo, Sandro S; Fofana, Isabel I; Matter, Matthias S MS; Blumer, Tanja T; Calabrese, Diego D; Boldanova, Tujana T; Piscuoglio, Salvatore S; Wieland, Stefan S; Ringnalda, Femke F; Schwank, Gerald G; Terracciano, Luigi M LM; Ng, Charlotte K Y CKY; Heim, Markus H MH

Publication Date: 2018-07-31

Variant appearance in text: N/A

PubMed Link: 30067989

Variant Present in the following documents:

View BVdb publication page

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The evolutionary landscape of chronic lymphocytic leukemia treated with ibrutinib targeted therapy.

Nature Communications

Landau, Dan A DA; Sun, Clare C; Rosebrock, Daniel D; Herman, Sarah E M SEM; Fein, Joshua J; Sivina, Mariela M; Underbayev, Chingiz C; Liu, Delong D; Hoellenriegel, Julia J; Ravichandran, Sarangan S; Farooqui, Mohammed Z H MZH; Zhang, Wandi W; Cibulskis, Carrie C; Zviran, Asaf A; Neuberg, Donna S DS; Livitz, Dimitri D; Bozic, Ivana I; Leshchiner, Ignaty I; Getz, Gad G; Burger, Jan A JA; Wiestner, Adrian A; Wu, Catherine J CJ

Publication Date: 2017-12-19

Variant appearance in text: TP53: R209fs

PubMed Link: 29259203

Variant Present in the following documents:

• 41467_2017_Article_2329.pdf

View BVdb publication page

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Profiling cancer-related gene mutations in oral squamous cell carcinoma from Japanese patients by targeted amplicon sequencing.

Oncotarget

Nakagaki, Takafumi T; Tamura, Miyuki M; Kobashi, Kenta K; Koyama, Ryota R; Fukushima, Hisayo H; Ohashi, Tomoko T; Idogawa, Masashi M; Ogi, Kazuhiro K; Hiratsuka, Hiroyoshi H; Tokino, Takashi T; Sasaki, Yasushi Y

Publication Date: 2017-08-29

Variant appearance in text: TP53: Arg209fs

PubMed Link: 28938622

Variant Present in the following documents:

• oncotarget-08-59113-s005.xlsx, sheet 1

View BVdb publication page

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Circulating tumour DNA reflects treatment response and clonal evolution in chronic lymphocytic leukaemia.

Nature Communications

Yeh, Paul P; Hunter, Tane T; Sinha, Devbarna D; Ftouni, Sarah S; Wallach, Elise E; Jiang, Damian D; Chan, Yih-Chih YC; Wong, Stephen Q SQ; Silva, Maria Joao MJ; Vedururu, Ravikiran R; Doig, Kenneth K; Lam, Enid E; Arnau, Gisela Mir GM; Semple, Timothy T; Wall, Meaghan M; Zivanovic, Andjelija A; Agarwal, Rishu R; Petrone, Pasquale P; Jones, Kate K; Westerman, David D; Blombery, Piers P; Seymour, John F JF; Papenfuss, Anthony T AT; Dawson, Mark A MA; Tam, Constantine S CS; Dawson, Sarah-Jane SJ

Publication Date: 2017-03-17

Variant appearance in text: N/A

PubMed Link: 28303898

Variant Present in the following documents:

View BVdb publication page

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Exome and genome sequencing of nasopharynx cancer identifies NF-κB pathway activating mutations.

Nature Communications

Li, Yvonne Y YY; Chung, Grace T Y GT; Lui, Vivian W Y VW; To, Ka-Fai KF; Ma, Brigette B Y BB; Chow, Chit C; Woo, John K S JK; Yip, Kevin Y KY; Seo, Jeongsun J; Hui, Edwin P EP; Mak, Michael K F MK; Rusan, Maria M; Chau, Nicole G NG; Or, Yvonne Y Y YY; Law, Marcus H N MH; Law, Peggy P Y PP; Liu, Zoey W Y ZW; Ngan, Hoi-Lam HL; Hau, Pok-Man PM; Verhoeft, Krista R KR; Poon, Peony H Y PH; Yoo, Seong-Keun SK; Shin, Jong-Yeon JY; Lee, Sau-Dan SD; Lun, Samantha W M SW; Jia, Lin L; Chan, Anthony W H AW; Chan, Jason Y K JY; Lai, Paul B S PB; Fung, Choi-Yi CY; Hung, Suet-Ting ST; Wang, Lin L; Chang, Ann Margaret V AM; Chiosea, Simion I SI; Hedberg, Matthew L ML; Tsao, Sai-Wah SW; van Hasselt, Andrew C AC; Chan, Anthony T C AT; Grandis, Jennifer R JR; Hammerman, Peter S PS; Lo, Kwok-Wai KW

Publication Date: 2017-01-18

Variant appearance in text: TP53: R209fs

PubMed Link: 28098136

Variant Present in the following documents:

• ncomms14121-s10.xlsx, sheet 1
• ncomms14121-s5.xlsx, sheet 1

View BVdb publication page

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Mutations driving CLL and their evolution in progression and relapse.

Nature

Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ

Publication Date: 2015-10-22

Variant appearance in text: N/A

PubMed Link: 26466571

Variant Present in the following documents:

View BVdb publication page

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Role of TP53 mutations in the origin and evolution of therapy-related acute myeloid leukaemia.

Nature

Wong, Terrence N TN; Ramsingh, Giridharan G; Young, Andrew L AL; Miller, Christopher A CA; Touma, Waseem W; Welch, John S JS; Lamprecht, Tamara L TL; Shen, Dong D; Hundal, Jasreet J; Fulton, Robert S RS; Heath, Sharon S; Baty, Jack D JD; Klco, Jeffery M JM; Ding, Li L; Mardis, Elaine R ER; Westervelt, Peter P; DiPersio, John F JF; Walter, Matthew J MJ; Graubert, Timothy A TA; Ley, Timothy J TJ; Druley, Todd T; Link, Daniel C DC; Wilson, Richard K RK

Publication Date: 2015-02-26

Variant appearance in text: N/A

PubMed Link: 25487151

Variant Present in the following documents:

View BVdb publication page

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Exploiting high-throughput cell line drug screening studies to identify candidate therapeutic agents in head and neck cancer.

Bmc Pharmacology & Toxicology

Nichols, Anthony C AC; Black, Morgan M; Yoo, John J; Pinto, Nicole N; Fernandes, Andrew A; Haibe-Kains, Benjamin B; Boutros, Paul C PC; Barrett, John W JW

Publication Date: 2014-11-27

Variant appearance in text: N/A

PubMed Link: 25428177

Variant Present in the following documents:

View BVdb publication page

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Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine

Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L

Publication Date: 2014-12

Variant appearance in text: TP53: R209fs

PubMed Link: 25326804

Variant Present in the following documents:

• NIHMS630249-supplement-5.xlsx, sheet 1
• NIHMS630249-supplement-6.xlsx, sheet 1

View BVdb publication page

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Detailed analysis of therapy-driven clonal evolution of TP53 mutations in chronic lymphocytic leukemia.

Leukemia

Malcikova, J J; Stano-Kozubik, K K; Tichy, B B; Kantorova, B B; Pavlova, S S; Tom, N N; Radova, L L; Smardova, J J; Pardy, F F; Doubek, M M; Brychtova, Y Y; Mraz, M M; Plevova, K K; Diviskova, E E; Oltova, A A; Mayer, J J; Pospisilova, S S; Trbusek, M M

Publication Date: 2015-04

Variant appearance in text: N/A

PubMed Link: 25287991

Variant Present in the following documents:

View BVdb publication page

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