TP53 c.298C>T ;(p.Q100*)

Variant ID: 17-7579389-G-A

NM_000546.5(TP53):c.298C>T;(p.Q100*)

This variant was identified in 91 publications

View GRCh38 version.




Publications:


A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: TP53: Q100X
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: TP53: 298C>T; Gln100Ter; rs1567555994
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TP53: 298C>T; Gln100Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: TP53: Q100*
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
View BVdb publication page



Immune environment and antigen specificity of the T cell receptor repertoire of malignant ascites in ovarian cancer.

Plos One
Yoshida-Court, Kyoko K; Karpinets, Tatiana V TV; Mitra, Aparna A; Solley, Travis N TN; Dorta-Estremera, Stephanie S; Sims, Travis T TT; Delgado Medrano, Andrea Y AY; El Alam, Molly B MB; Ahmed-Kaddar, Mustapha M; Lynn, Erica J EJ; Sastry, K Jagannadha KJ; Zhang, Jianhua J; Futreal, Andrew A; Nick, Alpa A; Lu, Karen K; Colbert, Lauren E LE; Klopp, Ann H AH
Publication Date: 2023

Variant appearance in text: TP53: 298C>T
PubMed Link: 36607962
Variant Present in the following documents:
  • pone.0279590.s008.pdf
View BVdb publication page



Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.

Cancer Science
Kage, Hidenori H; Shinozaki-Ushiku, Aya A; Ishigaki, Kazunaga K; Sato, Yusuke Y; Tanabe, Masahiko M; Tanaka, Shota S; Tanikawa, Michihiro M; Watanabe, Kousuke K; Kato, Shingo S; Akagi, Kiwamu K; Uchino, Keita K; Mitani, Kinuko K; Takahashi, Shunji S; Miura, Yuji Y; Ikeda, Sadakatsu S; Kojima, Yasushi Y; Watanabe, Kiyotaka K; Mochizuki, Hitoshi H; Yamaguchi, Hironori H; Kawazoe, Yoshimasa Y; Kashiwabara, Kosuke K; Kohsaka, Shinji S; Tatsuno, Kenji K; Ushiku, Tetsuo T; Ohe, Kazuhiko K; Yatomi, Yutaka Y; Seto, Yasuyuki Y; Aburatani, Hiroyuki H; Mano, Hiroyuki H; Miyagawa, Kiyoshi K; Oda, Katsutoshi K
Publication Date: 2023-01-05

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 36601953
Variant Present in the following documents:
  • CAS-114-1710-s001.xlsx, sheet 1
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: TP53: 298C>T
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Mutually exclusive genetic interactions and gene essentiality shape the genomic landscape of primary melanoma.

The Journal Of Pathology
Birkeälv, Sofia S; Harland, Mark M; Matsuyama, Larissa Satiko Alcantara Sekimoto LSAS; Rashid, Mamun M; Mehta, Ishan I; Laye, Jonathan P JP; Haase, Kerstin K; Mell, Tracey T; Iyer, Vivek V; Robles-Espinoza, Carla Daniela CD; McDermott, Ultan U; van Loo, Peter P; Kuijjer, Marieke L ML; Possik, Patricia A PA; Maria Engler, Silvya Stuchi SS; Bishop, D Timothy DT; Newton-Bishop, Julia J; Adams, David J DJ
Publication Date: 2022-10-11

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 36219477
Variant Present in the following documents:
  • PATH-259-56-s006.xlsx, sheet 2
  • PATH-259-56-s004.xlsx, sheet 2
View BVdb publication page



Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: TP53: 298C>T
PubMed Link: 36125633
Variant Present in the following documents:
  • CAM4-12-4042-s001.xlsx, sheet 1
View BVdb publication page



Integrated cohort of esophageal squamous cell cancer reveals genomic features underlying clinical characteristics.

Nature Communications
Li, Minghao M; Zhang, Zicheng Z; Wang, Qianrong Q; Yi, Yan Y; Li, Baosheng B
Publication Date: 2022-09-07

Variant appearance in text: TP53: Q100X
PubMed Link: 36071046
Variant Present in the following documents:
  • 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22
View BVdb publication page



The spectrum of subclonal TP53 mutations in chronic lymphocytic leukemia: A next generation sequencing retrospective study.

Hematological Oncology
De Luca, Giuseppa G; Cerruti, Giannamaria G; Lastraioli, Sonia S; Conte, Romana R; Ibatici, Adalberto A; Di Felice, Nikki N; Morabito, Fortunato F; Monti, Paola P; Fronza, Gilberto G; Matis, Serena S; Colombo, Monica M; Fabris, Sonia S; Ciarrocchi, Alessia A; Neri, Antonino A; Menichini, Paola P; Ferrarini, Manlio M; Nozza, Paolo P; Fais, Franco F; Cutrona, Giovanna G; Dono, Mariella M
Publication Date: 2022-08-12

Variant appearance in text: TP53: Gln100Ter
PubMed Link: 35961859
Variant Present in the following documents:
  • HON-40-962-s001.xlsx, sheet 1
View BVdb publication page



Case Report: Pathogenesis With a Rare RHOA A161E Mutation in a Patient With Angioimmunoblastic T-Cell Lymphoma.

Frontiers In Genetics
Cao, Lihong L; Tong, Hongyan H; Liu, Xing X; Xu, Yingqing Y; Yu, Fang F; Pan, Qi Q; Lai, Jin J; Huang, Jian J; Qin, Jiayue J; Jin, Jie J
Publication Date: 2022

Variant appearance in text: TP53: Q100X
PubMed Link: 35910204
Variant Present in the following documents:
  • Main text
  • fgene-13-948744.pdf
View BVdb publication page



Landscape of somatic alterations in large-scale solid tumors from an Asian population.

Nature Communications
Wu, Liqun L; Yao, Herui H; Chen, Hui H; Wang, Aodi A; Guo, Kun K; Gou, Wenli W; Yu, Yanfei Y; Li, Xiang X; Yao, Ming M; Yuan, Shaohua S; Pang, Fei F; Hu, Jinwei J; Chen, Lijuan L; Liu, Wenjin W; Yao, Jicheng J; Zhang, Shuirong S; Dong, Xiaowei X; Wang, Weifeng W; Hu, Jing J; Ling, Qi Q; Ding, Songming S; Wei, Yan Y; Li, Qiang Q; Cao, Weichun W; Wang, Shuang S; Di, Yang Y; Feng, Feiling F; Zhao, Gang G; Zhang, Jian J; Huang, Ling L; Xu, Jia J; Yan, Wangjun W; Tong, Zhongsheng Z; Jiang, Da D; Ji, Tao T; Li, Qiao Q; Xu, Ling L; He, Huiying H; Shang, Liang L; Liu, Jin J; Wang, Kefeng K; Wu, Duoguang D; Shen, Jingnan J; Liu, Ye Y; Zhang, Ting T; Liang, Chaojie C; Wang, Yusheng Y; Shang, Yanhong Y; Guo, Jianji J; Liang, Guanbiao G; Xu, Shifeng S; Liu, Junfeng J; Wang, Kai K; Wang, Minghui M
Publication Date: 2022-07-23

Variant appearance in text: TP53: Q100*
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications
Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A
Publication Date: 2022-07-13

Variant appearance in text: TP53: 298C>T
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genomic Alterations Identification and Resistance Mechanisms Exploration of NSCLC With Central Nervous System Metastases Using Liquid Biopsy of Cerebrospinal Fluid: A Real-World Study.

Frontiers In Oncology
Shen, Fangfang F; Liang, Naixin N; Fan, Zaiwen Z; Zhao, Min M; Kang, Jing J; Wang, Xifang X; Hu, Qun Q; Mu, Yongping Y; Wang, Kai K; Yuan, Mingming M; Chen, Rongrong R; Guo, Wei W; Dong, Guilan G; Zhao, Jun J; Bai, Jun J
Publication Date: 2022

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Monomorphic epitheliotropic intestinal T-cell lymphoma comprises morphologic and genomic heterogeneity impacting outcome.

Haematologica
Veloza, Luis L; Cavalieri, Doriane D; Missiaglia, Edoardo E; Ledoux-Pilon, Albane A; Bisig, Bettina B; Pereira, Bruno B; Bonnet, Christophe C; Poullot, Elsa E; Quintanilla-Martinez, Leticia L; Dubois, Romain R; Llamas-Gutierrez, Francisco F; Bossard, Céline C; De Wind, Roland R; Drieux, Fanny F; Fontaine, Juliette J; Parrens, Marie M; Sandrini, Jeremy J; Fataccioli, Virginie V; Delfau-Larue, Marie-Hélène MH; Daniel, Adrien A; Lhomme, Faustine F; Clément-Filliatre, Lauriane L; Lemonnier, François F; Cairoli, Anne A; Morel, Pierre P; Glaisner, Sylvie S; Joly, Bertrand B; El Yamani, Abderrazak A; Laribi, Kamel K; Bachy, Emmanuel E; Siebert, Reiner R; Vallois, David D; Gaulard, Philippe P; Tournilhac, Olivier O; De Leval, Laurence L
Publication Date: 2022-06-16

Variant appearance in text: TP53: 298C>T
PubMed Link: 35708139
Variant Present in the following documents:
  • 2022_281226_VELOZA_SUPPL.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TP53: Q100*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Somatic whole genome dynamics of precancer in Barrett's esophagus reveals features associated with disease progression.

Nature Communications
Paulson, Thomas G TG; Galipeau, Patricia C PC; Oman, Kenji M KM; Sanchez, Carissa A CA; Kuhner, Mary K MK; Smith, Lucian P LP; Hadi, Kevin K; Shah, Minita M; Arora, Kanika K; Shelton, Jennifer J; Johnson, Molly M; Corvelo, Andre A; Maley, Carlo C CC; Yao, Xiaotong X; Sanghvi, Rashesh R; Venturini, Elisa E; Emde, Anne-Katrin AK; Hubert, Benjamin B; Imielinski, Marcin M; Robine, Nicolas N; Reid, Brian J BJ; Li, Xiaohong X
Publication Date: 2022-04-28

Variant appearance in text: TP53: 298C>T; Gln100*
PubMed Link: 35484108
Variant Present in the following documents:
  • 41467_2022_29767_MOESM3_ESM.xlsx, sheet 24
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: TP53: Q100*
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: TP53: Q100*
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.

Bmc Cancer
Karachaliou, Georgia Sofia GS; Alkallas, Rached R; Carroll, Sarah B SB; Caressi, Chongshan C; Zakria, Danny D; Patel, Nirali M NM; Trembath, Dimitri G DG; Ezzell, Jennifer A JA; Pegna, Guillaume J GJ; Googe, Paul B PB; Galeotti, Jonathan P JP; Ayvali, Fatih F; Collichio, Frances A FA; Lee, Carrie B CB; Ollila, David W DW; Gulley, Margaret L ML; Johnson, Douglas B DB; Kim, Kevin B KB; Watson, Ian R IR; Moschos, Stergios J SJ
Publication Date: 2022-01-05

Variant appearance in text: TP53: Q100*
PubMed Link: 34986841
Variant Present in the following documents:
  • 12885_2021_8908_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Efficient Generation of P53 Biallelic Mutations in Diannan Miniature Pigs Using RNA-Guided Base Editing.

Life (Basel, Switzerland)
Li, Honghui H; Cheng, Wenmin W; Chen, Bowei B; Pu, Shaoxia S; Fan, Ninglin N; Zhang, Xiaolin X; Jiao, Deling D; Shi, Dejia D; Guo, Jianxiong J; Li, Zhuo Z; Qing, Yubo Y; Jia, Baoyu B; Zhao, Hong-Ye HY; Wei, Hong-Jiang HJ
Publication Date: 2021-12-17

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 34947951
Variant Present in the following documents:
  • Main text
  • life-11-01417.pdf
View BVdb publication page



Efficient Generation of P53 Biallelic Mutations in Diannan Miniature Pigs Using RNA-Guided Base Editing.

Life (Basel, Switzerland)
Li, Honghui H; Cheng, Wenmin W; Chen, Bowei B; Pu, Shaoxia S; Fan, Ninglin N; Zhang, Xiaolin X; Jiao, Deling D; Shi, Dejia D; Guo, Jianxiong J; Li, Zhuo Z; Qing, Yubo Y; Jia, Baoyu B; Zhao, Hong-Ye HY; Wei, Hong-Jiang HJ
Publication Date: 2021-12-17

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 34947951
Variant Present in the following documents:
  • Main text
  • life-11-01417.pdf
View BVdb publication page



Utilizing phenotypic characteristics of metastatic brain tumors to improve the probability of detecting circulating tumor DNA from cerebrospinal fluid in non-small-cell lung cancer patients: development and validation of a prediction model in a prospective cohort study.

Esmo Open
Li, M M; Hou, X X; Zheng, L L; Ma, Y Y; Li, D D; Lv, Y Y; Chen, J J; Zheng, W W; Shao, Y Y; Mou, Y Y; Chen, L L
Publication Date: 2022-02

Variant appearance in text: TP53: Q100*
PubMed Link: 34922300
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Molecular profiling of advanced malignancies guides first-line N-of-1 treatments in the I-PREDICT treatment-naïve study.

Genome Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Patel, Hitendra H; Nikanjam, Mina M; Fanta, Paul T PT; Hahn, Michael E ME; De, Pradip P; Williams, Casey C; Guido, Jessica J; Solomon, Benjamin M BM; McKay, Rana R RR; Krie, Amy A; Boles, Sarah G SG; Ross, Jeffrey S JS; Lee, J Jack JJ; Leyland-Jones, Brian B; Lippman, Scott M SM; Kurzrock, Razelle R
Publication Date: 2021-10-04

Variant appearance in text: TP53: Q100*
PubMed Link: 34607609
Variant Present in the following documents:
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 2
  • 13073_2021_969_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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: 298C>T; Q100*
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.

Oncogene
Liebs, Sandra S; Eder, Theresa T; Klauschen, Frederick F; Schütte, Moritz M; Yaspo, Marie-Laure ML; Keilholz, Ulrich U; Tinhofer, Ingeborg I; Kidess-Sigal, Evelyn E; Braunholz, Diana D
Publication Date: 2021-08

Variant appearance in text: TP53: Q100*
PubMed Link: 34230613
Variant Present in the following documents:
  • Main text
  • 41388_2021_Article_1928.pdf
View BVdb publication page



Applicability of liquid biopsies to represent the mutational profile of tumor tissue from different cancer entities.

Oncogene
Liebs, Sandra S; Eder, Theresa T; Klauschen, Frederick F; Schütte, Moritz M; Yaspo, Marie-Laure ML; Keilholz, Ulrich U; Tinhofer, Ingeborg I; Kidess-Sigal, Evelyn E; Braunholz, Diana D
Publication Date: 2021-08

Variant appearance in text: TP53: Q100*
PubMed Link: 34230613
Variant Present in the following documents:
  • Main text
  • 41388_2021_Article_1928.pdf
View BVdb publication page



Molecular alterations in basal cell carcinoma subtypes.

Scientific Reports
Di Nardo, Lucia L; Pellegrini, Cristina C; Di Stefani, Alessandro A; Ricci, Francesco F; Fossati, Barbara B; Del Regno, Laura L; Carbone, Carmine C; Piro, Geny G; Corbo, Vincenzo V; Delfino, Pietro P; De Summa, Simona S; Maturo, Maria Giovanna MG; Rocco, Tea T; Tortora, Giampaolo G; Fargnoli, Maria Concetta MC; Peris, Ketty K
Publication Date: 2021-06-24

Variant appearance in text: TP53: 298C>T; Gln100Ter
PubMed Link: 34168209
Variant Present in the following documents:
  • 41598_2021_92592_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Publication Date: 2021-07

Variant appearance in text: TP53: Q100*
PubMed Link: 34097174
Variant Present in the following documents:
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A
Publication Date: 2021

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 33996580
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xlsx, sheet 1
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: TP53: Q100*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Nature Communications
Kennedy, Alyssa L AL; Myers, Kasiani C KC; Bowman, James J; Gibson, Christopher J CJ; Camarda, Nicholas D ND; Furutani, Elissa E; Muscato, Gwen M GM; Klein, Robert H RH; Ballotti, Kaitlyn K; Liu, Shanshan S; Harris, Chad E CE; Galvin, Ashley A; Malsch, Maggie M; Dale, David D; Gansner, John M JM; Nakano, Taizo A TA; Bertuch, Alison A; Vlachos, Adrianna A; Lipton, Jeffrey M JM; Castillo, Paul P; Connelly, James J; Churpek, Jane J; Edwards, John R JR; Hijiya, Nobuko N; Ho, Richard H RH; Hofmann, Inga I; Huang, James N JN; Keel, Siobán S; Lamble, Adam A; Lau, Bonnie W BW; Norkin, Maxim M; Stieglitz, Elliot E; Stock, Wendy W; Walkovich, Kelly K; Boettcher, Steffen S; Brendel, Christian C; Fleming, Mark D MD; Davies, Stella M SM; Weller, Edie A EA; Bahl, Christopher C; Carter, Scott L SL; Shimamura, Akiko A; Lindsley, R Coleman RC
Publication Date: 2021-02-26

Variant appearance in text: TP53: Q100X
PubMed Link: 33637765
Variant Present in the following documents:
  • 41467_2021_21588_MOESM1_ESM.pdf
View BVdb publication page



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: TP53: Q100*
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM9_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: TP53: Q100*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
  • CAM4-10-53-s003.xlsx, sheet 1
  • CAM4-10-53-s002.xlsx, sheet 1
View BVdb publication page



Genomic and transcriptomic alterations associated with drug vulnerabilities and prognosis in adenocarcinoma at the gastroesophageal junction.

Nature Communications
Lin, Yuan Y; Luo, Yingying Y; Sun, Yanxia Y; Guo, Wenjia W; Zhao, Xuan X; Xi, Yiyi Y; Ma, Yuling Y; Shao, Mingming M; Tan, Wen W; Gao, Ge G; Wu, Chen C; Lin, Dongxin D
Publication Date: 2020-11-30

Variant appearance in text: TP53: Q100*
PubMed Link: 33257699
Variant Present in the following documents:
  • 41467_2020_19949_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Targeted genomic analysis of cutaneous T cell lymphomas identifies a subset with aggressive clinicopathological features.

Blood Cancer Journal
Argyropoulos, Kimon V KV; Pulitzer, Melissa M; Maura, Francesco F; Mohanty, Abhinita A; Mondello, Patrizia P; Horwitz, Steven M SM; Myskowski, Patricia P; Moskowitz, Alison A; Dogan, Ahmet A; Querfeld, Christiane C; Rapaport, Franck F; Siakantaris, Marina M; Louis, Peter C PC; Galasso, Natasha N; van den Brink, Marcel R M MRM; Palomba, M Lia ML
Publication Date: 2020-11-09

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 33168809
Variant Present in the following documents:
  • 41408_2020_380_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



A risk-associated Active transcriptome phenotype expressed by histologically normal human breast tissue and linked to a pro-tumorigenic adipocyte population.

Breast Cancer Research : Bcr
Kang, Taekyu T; Yau, Christina C; Wong, Christopher K CK; Sanborn, John Z JZ; Newton, Yulia Y; Vaske, Charlie C; Benz, Stephen C SC; Krings, Gregor G; Camarda, Roman R; Henry, Jill E JE; Stuart, Josh J; Powell, Mark M; Benz, Christopher C CC
Publication Date: 2020-07-31

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 32736587
Variant Present in the following documents:
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 2
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 3
  • 13058_2020_1322_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: TP53: Q100*
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



Chemosensitivity of Patient-Derived Cancer Stem Cells Identifies Colorectal Cancer Patients with Potential Benefit from FGFR Inhibitor Therapy.

Cancers
Yamamoto, Takehito T; Miyoshi, Hiroyuki H; Kakizaki, Fumihiko F; Maekawa, Hisatsugu H; Yamaura, Tadayoshi T; Morimoto, Tomonori T; Katayama, Toshiro T; Kawada, Kenji K; Sakai, Yoshiharu Y; Taketo, M Mark MM
Publication Date: 2020-07-22

Variant appearance in text: TP53: 298C>T; Q100X
PubMed Link: 32708005
Variant Present in the following documents:
  • cancers-12-02010-s001.pdf
View BVdb publication page



Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nature Communications
Zaidi, Syed H SH; Harrison, Tabitha A TA; Phipps, Amanda I AI; Steinfelder, Robert R; Trinh, Quang M QM; Qu, Conghui C; Banbury, Barbara L BL; Georgeson, Peter P; Grasso, Catherine S CS; Giannakis, Marios M; Adams, Jeremy B JB; Alwers, Elizabeth E; Amitay, Efrat L EL; Barfield, Richard T RT; Berndt, Sonja I SI; Borozan, Ivan I; Brenner, Hermann H; Brezina, Stefanie S; Buchanan, Daniel D DD; Cao, Yin Y; Chan, Andrew T AT; Chang-Claude, Jenny J; Connolly, Charles M CM; Drew, David A DA; Farris, Alton Brad AB; Figueiredo, Jane C JC; French, Amy J AJ; Fuchs, Charles S CS; Garraway, Levi A LA; Gruber, Steve S; Guinter, Mark A MA; Hamilton, Stanley R SR; Harlid, Sophia S; Heisler, Lawrence E LE; Hidaka, Akihisa A; Hopper, John L JL; Huang, Wen-Yi WY; Huyghe, Jeroen R JR; Jenkins, Mark A MA; Krzyzanowski, Paul M PM; Lemire, Mathieu M; Lin, Yi Y; Luo, Xuemei X; Mardis, Elaine R ER; McPherson, John D JD; Miller, Jessica K JK; Moreno, Victor V; Mu, Xinmeng Jasmine XJ; Nishihara, Reiko R; Papadopoulos, Nickolas N; Pasternack, Danielle D; Quist, Michael J MJ; Rafikova, Adilya A; Reid, Emma E G EEG; Shinbrot, Eve E; Shirts, Brian H BH; Stein, Lincoln D LD; Teney, Cherie D CD; Timms, Lee L; Um, Caroline Y CY; Van Guelpen, Bethany B; Van Tassel, Megan M; Wang, Xiaolong X; Wheeler, David A DA; Yung, Christina K CK; Hsu, Li L; Ogino, Shuji S; Gsur, Andrea A; Newcomb, Polly A PA; Gallinger, Steven S; Hoffmeister, Michael M; Campbell, Peter T PT; Thibodeau, Stephen N SN; Sun, Wei W; Hudson, Thomas J TJ; Peters, Ulrike U
Publication Date: 2020-07-20

Variant appearance in text: TP53: Q100X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Kinome capture sequencing of high-grade serous ovarian carcinoma reveals novel mutations in the JAK3 gene.

Plos One
Mittempergher, Lorenza L; Piskorz, Anna M AM; Bosma, Astrid J AJ; Michaut, Magali M; Wisman, G Bea A GBA; Kluin, Roelof J C RJC; Nieuwland, Marja M; Brugman, Wim W; van der Ven, Kevin J W KJW; Marass, Francesco F; Morris, James J; Rosenfeld, Nitzan N; Jimenez-Linan, Mercedes M; de Jong, Steven S; van der Zee, Ate G J AGJ; Brenton, James D JD; Bernards, René R
Publication Date: 2020

Variant appearance in text: TP53: 96+311C>T
PubMed Link: 32639993
Variant Present in the following documents:
  • pone.0235766.s008.xlsx, sheet 3
View BVdb publication page



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: Q100*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr
Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P
Publication Date: 2020-06-15

Variant appearance in text: TP53: Q100*
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characterization of a newly established esophageal squamous cell carcinoma cell line from China and published esophageal squamous cell carcinoma cell lines.

Cancer Cell International
Li, Xiang X; Tian, Dongping D; Guo, Yi Y; Qiu, Shiyue S; Xu, Zexin Z; Deng, Wen W; Su, Min M
Publication Date: 2020

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 32489320
Variant Present in the following documents:
  • 12935_2020_1268_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Feasibility of next-generation sequencing in clinical practice: results of a pilot study in the Department of Precision Medicine at the University of Campania 'Luigi Vanvitelli'.

Esmo Open
De Falco, Vincenzo V; Poliero, Luca L; Vitello, Pietro Paolo PP; Ciardiello, Davide D; Vitale, Pasquale P; Zanaletti, Nicoletta N; Giunta, Emilio Francesco EF; Terminiello, Marinella M; Caputo, Vincenza V; Carlino, Francesca F; Di Liello, Raimondo R; Ventriglia, Anna A; Famiglietti, Vincenzo V; Martinelli, Erika E; Morgillo, Floriana F; Orditura, Michele M; De Vita, Ferdinando F; Fasano, Morena M; Napolitano, Stefania S; Martini, Giulia G; Della Corte, Carminia Maria CM; Franco, Renato R; Altucci, Lucia L; Ciardiello, Fortunato F; Troiani, Teresa T
Publication Date: 2020-03

Variant appearance in text: TP53: Q100*
PubMed Link: 32234730
Variant Present in the following documents:
  • esmoopen-2020-000675supp003.pdf
View BVdb publication page



Immunogenomic profiling determines responses to combined PARP and PD-1 inhibition in ovarian cancer.

Nature Communications
Färkkilä, Anniina A; Gulhan, Doga C DC; Casado, Julia J; Jacobson, Connor A CA; Nguyen, Huy H; Kochupurakkal, Bose B; Maliga, Zoltan Z; Yapp, Clarence C; Chen, Yu-An YA; Schapiro, Denis D; Zhou, Yinghui Y; Graham, Julie R JR; Dezube, Bruce J BJ; Munster, Pamela P; Santagata, Sandro S; Garcia, Elizabeth E; Rodig, Scott S; Lako, Ana A; Chowdhury, Dipanjan D; Shapiro, Geoffrey I GI; Matulonis, Ursula A UA; Park, Peter J PJ; Hautaniemi, Sampsa S; Sorger, Peter K PK; Swisher, Elizabeth M EM; D'Andrea, Alan D AD; Konstantinopoulos, Panagiotis A PA
Publication Date: 2020-03-19

Variant appearance in text: TP53: 298C>T; Q100X
PubMed Link: 32193378
Variant Present in the following documents:
  • 41467_2020_15315_MOESM3_ESM.xlsx, sheet 8
View BVdb publication page



Prospective evaluation of NGS-based liquid biopsy in untreated late stage non-squamous lung carcinoma in a single institution.

Journal Of Translational Medicine
Heeke, Simon S; Hofman, Véronique V; Ilié, Marius M; Allegra, Maryline M; Lespinet, Virginie V; Bordone, Olivier O; Benzaquen, Jonathan J; Boutros, Jacques J; Poudenx, Michel M; Lalvée, Salomé S; Tanga, Virginie V; Salacroup, Carole C; Bonnetaud, Christelle C; Marquette, Charles-Hugo CH; Hofman, Paul P
Publication Date: 2020-02-17

Variant appearance in text: TP53: Q100*
PubMed Link: 32066459
Variant Present in the following documents:
  • 12967_2020_2259_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: TP53: 298C>T
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Pan-cancer whole-genome analyses of metastatic solid tumours.

Nature
Priestley, Peter P; Baber, Jonathan J; Lolkema, Martijn P MP; Steeghs, Neeltje N; de Bruijn, Ewart E; Shale, Charles C; Duyvesteyn, Korneel K; Haidari, Susan S; van Hoeck, Arne A; Onstenk, Wendy W; Roepman, Paul P; Voda, Mircea M; Bloemendal, Haiko J HJ; Tjan-Heijnen, Vivianne C G VCG; van Herpen, Carla M L CML; Labots, Mariette M; Witteveen, Petronella O PO; Smit, Egbert F EF; Sleijfer, Stefan S; Voest, Emile E EE; Cuppen, Edwin E
Publication Date: 2019-11

Variant appearance in text: TP53: Gln100*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mutational concordance between primary and metastatic melanoma: a next-generation sequencing approach.

Journal Of Translational Medicine
Manca, Antonella A; Paliogiannis, Panagiotis P; Colombino, Maria M; Casula, Milena M; Lissia, Amelia A; Botti, Gerardo G; Caracò, Corrado C; Ascierto, Paolo A PA; Sini, Maria Cristina MC; Palomba, Grazia G; Pisano, Marina M; , ; , ; Doneddu, Valentina V; Cossu, Antonio A; Palmieri, Giuseppe G; ,
Publication Date: 2019-08-28

Variant appearance in text: TP53: 298C>T; Gln100Ter
PubMed Link: 31455347
Variant Present in the following documents:
  • 12967_2019_2039_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: TP53: Q100X
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: TP53: 298C>T
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
  • aging-11-102047-s002.xlsx, sheet 13
View BVdb publication page



The Genomic and Immune Landscapes of Lethal Metastatic Breast Cancer.

Cell Reports
De Mattos-Arruda, Leticia L; Sammut, Stephen-John SJ; Ross, Edith M EM; Bashford-Rogers, Rachael R; Greenstein, Erez E; Markus, Havell H; Morganella, Sandro S; Teng, Yvonne Y; Maruvka, Yosef Y; Pereira, Bernard B; Rueda, Oscar M OM; Chin, Suet-Feung SF; Contente-Cuomo, Tania T; Mayor, Regina R; Arias, Alexandra A; Ali, H Raza HR; Cope, Wei W; Tiezzi, Daniel D; Dariush, Aliakbar A; Dias Amarante, Tauanne T; Reshef, Dan D; Ciriaco, Nikaoly N; Martinez-Saez, Elena E; Peg, Vicente V; Ramon Y Cajal, Santiago S; Cortes, Javier J; Vassiliou, George G; Getz, Gad G; Nik-Zainal, Serena S; Murtaza, Muhammed M; Friedman, Nir N; Markowetz, Florian F; Seoane, Joan J; Caldas, Carlos C
Publication Date: 2019-05-28

Variant appearance in text: TP53: Q100*
PubMed Link: 31141692
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc3.xlsx, sheet 1
View BVdb publication page



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: Q100*
PubMed Link: 31028363
Variant Present in the following documents:
  • NIHMS1525315-supplement-2.xlsx, sheet 1
View BVdb publication page



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: 298C>T; Q100*
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Application of cell-free DNA for genomic tumor profiling: a feasibility study.

Oncotarget
Ahlborn, Lise B LB; Rohrberg, Kristoffer S KS; Gabrielaite, Migle M; Tuxen, Ida V IV; Yde, Christina W CW; Spanggaard, Iben I; Santoni-Rugiu, Eric E; Nielsen, Finn C FC; Lassen, Ulrik U; Mau-Sorensen, Morten M; Østrup, Olga O
Publication Date: 2019-02-15

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 30858924
Variant Present in the following documents:
  • oncotarget-10-1388-s002.xls, sheet 3
View BVdb publication page



DNA demethylation is associated with malignant progression of lower-grade gliomas.

Scientific Reports
Nomura, Masashi M; Saito, Kuniaki K; Aihara, Koki K; Nagae, Genta G; Yamamoto, Shogo S; Tatsuno, Kenji K; Ueda, Hiroki H; Fukuda, Shiro S; Umeda, Takayoshi T; Tanaka, Shota S; Takayanagi, Shunsaku S; Otani, Ryohei R; Nejo, Takahide T; Hana, Taijun T; Takahashi, Satoshi S; Kitagawa, Yosuke Y; Omata, Mayu M; Higuchi, Fumi F; Nakamura, Taishi T; Muragaki, Yoshihiro Y; Narita, Yoshitaka Y; Nagane, Motoo M; Nishikawa, Ryo R; Ueki, Keisuke K; Saito, Nobuhito N; Aburatani, Hiroyuki H; Mukasa, Akitake A
Publication Date: 2019-02-13

Variant appearance in text: TP53: Q100X
PubMed Link: 30760837
Variant Present in the following documents:
  • 41598_2019_38510_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



An integrated genomic analysis of anaplastic meningioma identifies prognostic molecular signatures.

Scientific Reports
Collord, Grace G; Tarpey, Patrick P; Kurbatova, Natalja N; Martincorena, Inigo I; Moran, Sebastian S; Castro, Manuel M; Nagy, Tibor T; Bignell, Graham G; Maura, Francesco F; Young, Matthew D MD; Berna, Jorge J; Tubio, Jose M C JMC; McMurran, Chris E CE; Young, Adam M H AMH; Sanders, Mathijs M; Noorani, Imran I; Price, Stephen J SJ; Watts, Colin C; Leipnitz, Elke E; Kirsch, Matthias M; Schackert, Gabriele G; Pearson, Danita D; Devadass, Abel A; Ram, Zvi Z; Collins, V Peter VP; Allinson, Kieren K; Jenkinson, Michael D MD; Zakaria, Rasheed R; Syed, Khaja K; Hanemann, C Oliver CO; Dunn, Jemma J; McDermott, Michael W MW; Kirollos, Ramez W RW; Vassiliou, George S GS; Esteller, Manel M; Behjati, Sam S; Brazma, Alvis A; Santarius, Thomas T; McDermott, Ultan U
Publication Date: 2018-09-10

Variant appearance in text: TP53: Q100*
PubMed Link: 30202034
Variant Present in the following documents:
  • 41598_2018_31659_MOESM2_ESM.xlsx, sheet 30
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The genomic landscape of small cell carcinoma of the esophagus.

Cell Research
Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH
Publication Date: 2018-07

Variant appearance in text: TP53: Q100X
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
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Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: TP53: 298C>T; Q100*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
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