TP53 c.520_521delinsTA ;(p.R174*)

Variant ID: 17-7578409-CT-TA

NM_000546.5(TP53):c.520_521delinsTA;(p.R174*)

This variant was identified in 90 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: TP53: R174X
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: p53: R174*
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s002.xlsx, sheet 1
View BVdb publication page



RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Nature
Jbara, Amina A; Lin, Kuan-Ting KT; Stossel, Chani C; Siegfried, Zahava Z; Shqerat, Haya H; Amar-Schwartz, Adi A; Elyada, Ela E; Mogilevsky, Maxim M; Raitses-Gurevich, Maria M; Johnson, Jared L JL; Yaron, Tomer M TM; Ovadia, Ofek O; Jang, Gun Ho GH; Danan-Gotthold, Miri M; Cantley, Lewis C LC; Levanon, Erez Y EY; Gallinger, Steven S; Krainer, Adrian R AR; Golan, Talia T; Karni, Rotem R
Publication Date: 2023-03-22

Variant appearance in text: TP53: R174X
PubMed Link: 36949200
Variant Present in the following documents:
  • 41586_2023_5820_MOESM4_ESM.xlsx, sheet 1
  • 41586_2023_5820_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: TP53: R174X
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
View BVdb publication page



Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: TP53: R174*
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
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: Arg174Ter
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
View BVdb publication page



NF1 loss of function as an alternative initiating event in pancreatic ductal adenocarcinoma.

Cell Reports
Ramakrishnan, Gopalakrishnan G; Parajuli, Parash P; Singh, Pura P; Friend, Creighton C; Hurwitz, Eric E; Prunier, Celine C; Razzaque, Mohammed S MS; Xu, Keli K; Atfi, Azeddine A
Publication Date: 2022-11-08

Variant appearance in text: TP53: R174*
PubMed Link: 36351408
Variant Present in the following documents:
  • NIHMS1848910-supplement-2.xlsx, sheet 3
  • NIHMS1848910-supplement-2.xlsx, sheet 2
View BVdb publication page



The 5-Hydroxymethylcytosine Landscape of Prostate Cancer.

Cancer Research
Sjöström, Martin M; Zhao, Shuang G SG; Levy, Samuel S; Zhang, Meng M; Ning, Yuhong Y; Shrestha, Raunak R; Lundberg, Arian A; Herberts, Cameron C; Foye, Adam A; Aggarwal, Rahul R; Hua, Junjie T JT; Li, Haolong H; Bergamaschi, Anna A; Maurice-Dror, Corinne C; Maheshwari, Ashutosh A; Chen, Sujun S; Ng, Sarah W S SWS; Ye, Wenbin W; Petricca, Jessica J; Fraser, Michael M; Chesner, Lisa L; Perry, Marc D MD; Moreno-Rodriguez, Thaidy T; Chen, William S WS; Alumkal, Joshi J JJ; Chou, Jonathan J; Morgans, Alicia K AK; Beer, Tomasz M TM; Thomas, George V GV; Gleave, Martin M; Lloyd, Paul P; Phillips, Tierney T; McCarthy, Erin E; Haffner, Michael C MC; Zoubeidi, Amina A; Annala, Matti M; Reiter, Robert E RE; Rettig, Matthew B MB; Witte, Owen N ON; Fong, Lawrence L; Bose, Rohit R; Huang, Franklin W FW; Luo, Jianhua J; Bjartell, Anders A; Lang, Joshua M JM; Mahajan, Nupam P NP; Lara, Primo N PN; Evans, Christopher P CP; Tran, Phuoc T PT; Posadas, Edwin M EM; He, Chuan C; Cui, Xiao-Long XL; Huang, Jiaoti J; Zwart, Wilbert W; Gilbert, Luke A LA; Maher, Christopher A CA; Boutros, Paul C PC; Chi, Kim N KN; Ashworth, Alan A; Small, Eric J EJ; He, Housheng H HH; Wyatt, Alexander W AW; Quigley, David A DA; Feng, Felix Y FY
Publication Date: 2022-11-02

Variant appearance in text: TP53: R174X
PubMed Link: 36251389
Variant Present in the following documents:
  • can-22-1123_supplementary_table_3_suppst3.xlsx, sheet 2
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: TP53: R174X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Molecular evolutionary process of advanced gastric cancer during sequential chemotherapy detected by circulating tumor DNA.

Journal Of Translational Medicine
Xi, Wenqi W; Zhou, Chenfei C; Xu, Fei F; Sun, Debin D; Wang, Shengzhou S; Chen, Yawei Y; Ji, Jun J; Ma, Tao T; Wu, Junwei J; Shangguan, Chengfang C; Zhu, Zhenggang Z; Zhang, Jun J
Publication Date: 2022-08-12

Variant appearance in text: TP53: R174X
PubMed Link: 35962408
Variant Present in the following documents:
  • 12967_2022_3567_MOESM9_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: R174*
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: TP53: R174*
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Differences in actionable genomic alterations between brain metastases and non‑brain metastases in patients with non‑small cell lung cancer.

International Journal Of Oncology
Nian, Rui R; Jiang, Huihui H; Zhao, Jiangman J; Hou, Wanle W; Zhang, Hua H; Ma, Jiangtao J; Lv, Pengbiao P; Jiang, Lisha L; Wang, Yongpan Y; Xu, Yue Y; Wu, Shouxin S; Lou, Jingwei J; Li, Wanjun W
Publication Date: 2022-09

Variant appearance in text: TP53: R174X
PubMed Link: 35796015
Variant Present in the following documents:
  • Supplementary_Data6.xlsx, sheet 1
View BVdb publication page



Single-cell sequencing reveals CD133+CD44--originating evolution and novel stemness related variants in human colorectal cancer.

Ebiomedicine
Zhang, Xiaoyan X; Yang, Ling L; Lei, Wanjun W; Hou, Qiang Q; Huang, Ming M; Zhou, Rongjing R; Enver, Tariq T; Wu, Shixiu S
Publication Date: 2022-08

Variant appearance in text: TP53: R174X
PubMed Link: 35785618
Variant Present in the following documents:
  • mmc1.xlsx, sheet 9
View BVdb publication page



Integrated genomic analyses of acral and mucosal melanomas nominate novel driver genes.

Genome Medicine
Wang, Meng M; Banik, Ishani I; Shain, A Hunter AH; Yeh, Iwei I; Bastian, Boris C BC
Publication Date: 2022-06-16

Variant appearance in text: TP53: R174X
PubMed Link: 35706047
Variant Present in the following documents:
  • 13073_2022_1068_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



The longitudinal dynamics and natural history of clonal haematopoiesis.

Nature
Fabre, Margarete A MA; de Almeida, José Guilherme JG; Fiorillo, Edoardo E; Mitchell, Emily E; Damaskou, Aristi A; Rak, Justyna J; Orrù, Valeria V; Marongiu, Michele M; Chapman, Michael Spencer MS; Vijayabaskar, M S MS; Baxter, Joanna J; Hardy, Claire C; Abascal, Federico F; Williams, Nicholas N; Nangalia, Jyoti J; Martincorena, Iñigo I; Campbell, Peter J PJ; McKinney, Eoin F EF; Cucca, Francesco F; Gerstung, Moritz M; Vassiliou, George S GS
Publication Date: 2022-06

Variant appearance in text: TP53: R174X
PubMed Link: 35650444
Variant Present in the following documents:
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 2
  • 41586_2022_4785_MOESM12_ESM.xlsx, sheet 1
View BVdb publication page



Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.

Cancers
Ju, Hye-Yeon HY; Ho, Jung Yoon JY; Kang, Jun J; Hur, Soo Young SY; Kim, Sejin S; Choi, Youn Jin YJ; Han, Mi-Ryung MR
Publication Date: 2022-05-19

Variant appearance in text: TP53: R174X
PubMed Link: 35626111
Variant Present in the following documents:
  • Main text
  • cancers-14-02506.pdf
View BVdb publication page



Proteogenomic characterization of 2002 human cancers reveals pan-cancer molecular subtypes and associated pathways.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Chandrashekar, Darshan S DS; Varambally, Sooryanarayana S; Creighton, Chad J CJ
Publication Date: 2022-05-13

Variant appearance in text: p53: R174X
PubMed Link: 35562349
Variant Present in the following documents:
  • 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive functional genomic analyses link APC somatic mutation and mRNA-miRNA networks to the clinical outcome of stage-III colorectal cancer patients.

Biomedical Journal
Chiang, Sum-Fu SF; Huang, Heng-Hsuan HH; Tsai, Wen-Sy WS; Chin-Ming Tan, Bertrand B; Yang, Chia-Yu CY; Huang, Po-Jung PJ; Yi-Feng Chang, Ian I; Lin, Jiarong J; Lu, Pei-Shan PS; Chin, En E; Liu, Yu-Hao YH; Yu, Jau-Song JS; Chiang, Jy-Ming JM; Hung, Hsin-Yuan HY; You, Jeng-Fu JF; Liu, Hsuan H
Publication Date: 2022-04

Variant appearance in text: TP53: R174X
PubMed Link: 35550340
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Integrated profiling of human pancreatic cancer organoids reveals chromatin accessibility features associated with drug sensitivity.

Nature Communications
Shi, Xiaohan X; Li, Yunguang Y; Yuan, Qiuyue Q; Tang, Shijie S; Guo, Shiwei S; Zhang, Yehan Y; He, Juan J; Zhang, Xiaoyu X; Han, Ming M; Liu, Zhuang Z; Zhu, Yiqin Y; Gao, Suizhi S; Wang, Huan H; Xu, Xiongfei X; Zheng, Kailian K; Jing, Wei W; Chen, Luonan L; Wang, Yong Y; Jin, Gang G; Gao, Dong D
Publication Date: 2022-04-21

Variant appearance in text: TP53: R174X
PubMed Link: 35449156
Variant Present in the following documents:
  • 41467_2022_29857_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Clinical utility of PDX cohorts to reveal biomarkers of intrinsic resistance and clonal architecture changes underlying acquired resistance to cetuximab in HNSCC.

Signal Transduction And Targeted Therapy
Yao, Yanli Y; Wang, Yujue Y; Chen, Lan L; Tian, Zhen Z; Yang, Guizhu G; Wang, Rui R; Wang, Chong C; Wu, Qi Q; Wu, Yaping Y; Gao, Jiamin J; Kang, Xindan X; Duan, Shengzhong S; Zhang, Zhiyuan Z; Sun, Shuyang S
Publication Date: 2022-03-08

Variant appearance in text: TP53: R174X
PubMed Link: 35260570
Variant Present in the following documents:
  • Main text
  • 41392_2022_Article_908.pdf
View BVdb publication page



Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Bmc Cancer
Ganesamoorthy, Devika D; Robertson, Alan James AJ; Chen, Wenhan W; Hall, Michael B MB; Cao, Minh Duc MD; Ferguson, Kaltin K; Lakhani, Sunil R SR; Nones, Katia K; Simpson, Peter T PT; Coin, Lachlan J M LJM
Publication Date: 2022-01-20

Variant appearance in text: TP53: R174X
PubMed Link: 35057759
Variant Present in the following documents:
  • 12885_2021_9160_MOESM1_ESM.xlsx, sheet 8
  • 12885_2021_9160_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Whole genome deep sequencing analysis of cell-free DNA in samples with low tumour content.

Bmc Cancer
Ganesamoorthy, Devika D; Robertson, Alan James AJ; Chen, Wenhan W; Hall, Michael B MB; Cao, Minh Duc MD; Ferguson, Kaltin K; Lakhani, Sunil R SR; Nones, Katia K; Simpson, Peter T PT; Coin, Lachlan J M LJM
Publication Date: 2022-01-20

Variant appearance in text: TP53: R174X
PubMed Link: 35057759
Variant Present in the following documents:
  • 12885_2021_9160_MOESM2_ESM.xlsx, sheet 1
  • 12885_2021_9160_MOESM1_ESM.xlsx, sheet 8
View BVdb publication page



Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-11-25

Variant appearance in text: TP53: R174X
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Identification of copy number variation-driven molecular subtypes informative for prognosis and treatment in pancreatic adenocarcinoma of a Chinese cohort.

Ebiomedicine
Zhan, Qian Q; Wen, Chenlei C; Zhao, Yi Y; Fang, Lu L; Jin, Yangbing Y; Zhang, Zehui Z; Zou, Siyi S; Li, Fanlu F; Yang, Ying Y; Wu, Lijia L; Jin, Jiabin J; Lu, Xiongxiong X; Xie, Junjie J; Cheng, Dongfeng D; Xu, Zhiwei Z; Zhang, Jun J; Wang, Jiancheng J; Deng, XiaXing X; Chen, Hao H; Peng, Chenghong C; Li, Hongwei H; Zhang, Henghui H; Fang, Hai H; Wang, Chaofu C; Shen, Baiyong B
Publication Date: 2021-12

Variant appearance in text: TP53: R174X
PubMed Link: 34839264
Variant Present in the following documents:
  • mmc5.xlsx, sheet 1
View BVdb publication page



Circulating Tumor DNA to Interrogate the Safety of Letrozole-Associated Controlled Ovarian Stimulation for Fertility Preservation in Breast Cancer Patients.

Frontiers In Oncology
Rothé, Françoise F; Lambertini, Matteo M; Goldrat, Oranite O; Maetens, Marion M; Bareche, Yacine Y; Blanc, Jeremy J; Rouas, Ghizlane G; Larsimont, Denis D; Sotiriou, Christos C; Ignatiadis, Michail M; Demeestere, Isabelle I
Publication Date: 2021

Variant appearance in text: TP53: R174X
PubMed Link: 34414109
Variant Present in the following documents:
  • Main text
  • fonc-11-686625.pdf
View BVdb publication page



Chronological genome and single-cell transcriptome integration characterizes the evolutionary process of adult T cell leukemia-lymphoma.

Nature Communications
Yamagishi, Makoto M; Kubokawa, Miyuki M; Kuze, Yuta Y; Suzuki, Ayako A; Yokomizo, Akari A; Kobayashi, Seiichiro S; Nakashima, Makoto M; Makiyama, Junya J; Iwanaga, Masako M; Fukuda, Takahiro T; Watanabe, Toshiki T; Suzuki, Yutaka Y; Uchimaru, Kaoru K
Publication Date: 2021-08-10

Variant appearance in text: TP53: R174X
PubMed Link: 34376672
Variant Present in the following documents:
  • 41467_2021_25101_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Analyses of Metaplastic or Sarcomatoid Carcinomas From Different Organs Revealed Frequent Mutations in KMT2D.

Frontiers In Molecular Biosciences
Zheng, Biqiang B; Song, Zhijian Z; Chen, Yong Y; Yan, Wangjun W
Publication Date: 2021

Variant appearance in text: TP53: R174X
PubMed Link: 34336928
Variant Present in the following documents:
  • Table2.xlsx, sheet 1
View BVdb publication page



Immunogenomics of Colorectal Cancer Response to Checkpoint Blockade: Analysis of the KEYNOTE 177 Trial and Validation Cohorts.

Gastroenterology
Bortolomeazzi, Michele M; Keddar, Mohamed Reda MR; Montorsi, Lucia L; Acha-Sagredo, Amelia A; Benedetti, Lorena L; Temelkovski, Damjan D; Choi, Subin S; Petrov, Nedyalko N; Todd, Katrina K; Wai, Patty P; Kohl, Johannes J; Denner, Tamara T; Nye, Emma E; Goldstone, Robert R; Ward, Sophia S; Wilson, Gareth A GA; Al Bakir, Maise M; Swanton, Charles C; John, Susan S; Miles, James J; Larijani, Banafshe B; Kunene, Victoria V; Fontana, Elisa E; Arkenau, Hendrik-Tobias HT; Parker, Peter J PJ; Rodriguez-Justo, Manuel M; Shiu, Kai-Keen KK; Spencer, Jo J; Ciccarelli, Francesca D FD
Publication Date: 2021-10

Variant appearance in text: TP53: R174X
PubMed Link: 34197832
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Genomic Landscape of Head and Neck Squamous Cell Carcinoma Across Different Anatomic Sites in Chinese Population.

Frontiers In Genetics
Ju, Yunhe Y; Wu, Xingrao X; Wang, Huizhen H; Li, Bin B; Long, Qing Q; Zhang, Dadong D; Chen, Hao H; Xiao, Nianqing N; Li, Fugen F; Zhang, Shiwen S; Yang, Shenggang S
Publication Date: 2021

Variant appearance in text: TP53: R174X
PubMed Link: 34194478
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 6
View BVdb publication page



Notch signaling and efficacy of PD-1/PD-L1 blockade in relapsed small cell lung cancer.

Nature Communications
Roper, Nitin N; Velez, Moises J MJ; Chiappori, Alberto A; Kim, Yoo Sun YS; Wei, Jun S JS; Sindiri, Sivasish S; Takahashi, Nobuyuki N; Mulford, Deborah D; Kumar, Suresh S; Ylaya, Kris K; Trindade, Christopher C; Manukyan, Irena I; Brown, Anna-Leigh AL; Trepel, Jane B JB; Lee, Jung-Min JM; Hewitt, Stephen S; Khan, Javed J; Thomas, Anish A
Publication Date: 2021-06-23

Variant appearance in text: TP53: R174X
PubMed Link: 34162872
Variant Present in the following documents:
  • 41467_2021_24164_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Multi-omics profiling of primary small cell carcinoma of the esophagus reveals RB1 disruption and additional molecular subtypes.

Nature Communications
Li, Renda R; Yang, Zhenlin Z; Shao, Fei F; Cheng, Hong H; Wen, Yaru Y; Sun, Sijin S; Guo, Wei W; Li, Zitong Z; Zhang, Fan F; Xue, Liyan L; Bi, Nan N; Wang, Jie J; Sun, Yingli Y; Li, Yin Y; Tan, Fengwei F; Xue, Qi Q; Gao, Shugeng S; Shi, Susheng S; Gao, Yibo Y; He, Jie J
Publication Date: 2021-06-18

Variant appearance in text: TP53: R174X
PubMed Link: 34145257
Variant Present in the following documents:
  • 41467_2021_24043_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fangazio, Marco M; Ladewig, Erik E; Gomez, Karen K; Garcia-Ibanez, Laura L; Kumar, Rahul R; Teruya-Feldstein, Julie J; Rossi, Davide D; Filip, Ioan I; Pan-Hammarström, Qiang Q; Inghirami, Giorgio G; Boldorini, Renzo R; Ott, German G; Staiger, Annette M AM; Chapuy, Björn B; Gaidano, Gianluca G; Bhagat, Govind G; Basso, Katia K; Rabadan, Raul R; Pasqualucci, Laura L; Dalla-Favera, Riccardo R
Publication Date: 2021-06-01

Variant appearance in text: TP53: R174*
PubMed Link: 34050029
Variant Present in the following documents:
  • pnas.2104504118.sd02.xlsx, sheet 1
View BVdb publication page



Clonal evolution and clinical implications of genetic abnormalities in blastic transformation of chronic myeloid leukaemia.

Nature Communications
Ochi, Yotaro Y; Yoshida, Kenichi K; Huang, Ying-Jung YJ; Kuo, Ming-Chung MC; Nannya, Yasuhito Y; Sasaki, Ko K; Mitani, Kinuko K; Hosoya, Noriko N; Hiramoto, Nobuhiro N; Ishikawa, Takayuki T; Branford, Susan S; Shanmuganathan, Naranie N; Ohyashiki, Kazuma K; Takahashi, Naoto N; Takaku, Tomoiku T; Tsuchiya, Shun S; Kanemura, Nobuhiro N; Nakamura, Nobuhiko N; Ueda, Yasunori Y; Yoshihara, Satoshi S; Bera, Rabindranath R; Shiozawa, Yusuke Y; Zhao, Lanying L; Takeda, June J; Watatani, Yosaku Y; Okuda, Rurika R; Makishima, Hideki H; Shiraishi, Yuichi Y; Chiba, Kenichi K; Tanaka, Hiroko H; Sanada, Masashi M; Takaori-Kondo, Akifumi A; Miyano, Satoru S; Ogawa, Seishi S; Shih, Lee-Yung LY
Publication Date: 2021-05-14

Variant appearance in text: TP53: R174X
PubMed Link: 33990592
Variant Present in the following documents:
  • 41467_2021_23097_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.

Ebiomedicine
Hoyer, K K; Hablesreiter, R R; Inoue, Y Y; Yoshida, K K; Briest, F F; Christen, F F; Kakiuchi, N N; Yoshizato, T T; Shiozawa, Y Y; Shiraishi, Y Y; Striefler, J K JK; Bischoff, S S; Lohneis, P P; Putter, H H; Blau, O O; Keilholz, U U; Bullinger, L L; Pelzer, U U; Hummel, M M; Riess, H H; Ogawa, S S; Sinn, M M; Damm, F F
Publication Date: 2021-04

Variant appearance in text: TP53: R174X
PubMed Link: 33862582
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
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: R174*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TP53: R174X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Mutation Profile of Primary Gastrointestinal Diffuse Large B-Cell Lymphoma.

Frontiers In Oncology
Li, Peifeng P; Chai, Jia J; Chen, Zi Z; Liu, Yang Y; Wei, Jie J; Liu, Yixiong Y; Zhao, Danhui D; Ma, Jing J; Wang, Kaijing K; Li, Xia X; Shao, Yang Y; Gong, Li L; Zhang, Wei W; Guo, Shuangping S; Yan, Qingguo Q; Li, Mingyang M; Fan, Linni L; Wang, Zhe Z
Publication Date: 2021

Variant appearance in text: TP53: R174X
PubMed Link: 33747936
Variant Present in the following documents:
  • Data_Sheet_1.xlsx, sheet 2
View BVdb publication page



A pediatric brain tumor atlas of genes deregulated by somatic genomic rearrangement.

Nature Communications
Zhang, Yiqun Y; Chen, Fengju F; Donehower, Lawrence A LA; Scheurer, Michael E ME; Creighton, Chad J CJ
Publication Date: 2021-02-10

Variant appearance in text: TP53: Arg174Ter
PubMed Link: 33568653
Variant Present in the following documents:
  • 41467_2021_21081_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Circulating tumor DNA as a prognostic marker in high-risk endometrial cancer.

Journal Of Translational Medicine
Feng, Weiwei W; Jia, Nan N; Jiao, Haining H; Chen, Jun J; Chen, Yan Y; Zhang, Yueru Y; Zhu, Menghan M; Zhu, Chongying C; Shen, Lifei L; Long, Wenqing W
Publication Date: 2021-02-03

Variant appearance in text: TP53: R174X
PubMed Link: 33536036
Variant Present in the following documents:
  • 12967_2021_2722_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.

Nature Communications
Vandekerkhove, Gillian G; Lavoie, Jean-Michel JM; Annala, Matti M; Murtha, Andrew J AJ; Sundahl, Nora N; Walz, Simon S; Sano, Takeshi T; Taavitsainen, Sinja S; Ritch, Elie E; Fazli, Ladan L; Hurtado-Coll, Antonio A; Wang, Gang G; Nykter, Matti M; Black, Peter C PC; Todenhöfer, Tilman T; Ost, Piet P; Gibb, Ewan A EA; Chi, Kim N KN; Eigl, Bernhard J BJ; Wyatt, Alexander W AW
Publication Date: 2021-01-08

Variant appearance in text: TP53: R174X
PubMed Link: 33420073
Variant Present in the following documents:
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 4
  • 41467_2020_20493_MOESM3_ESM.xlsx, sheet 7
View BVdb publication page



Molecular characterization of organoids derived from pancreatic intraductal papillary mucinous neoplasms.

The Journal Of Pathology
Huang, Bo B; Trujillo, Maria A MA; Fujikura, Kohei K; Qiu, Miaozhen M; Chen, Fei F; Felsenstein, Matthäus M; Zhou, Cancan C; Skaro, Michael M; Gauthier, Christian C; Macgregor-Das, Anne A; Hutchings, Danielle D; Hong, Seung-Mo SM; Hruban, Ralph H RH; Eshleman, James R JR; Thompson, Elizabeth D ED; Klein, Alison P AP; Goggins, Michael M; Wood, Laura D LD; Roberts, Nicholas J NJ
Publication Date: 2020-11

Variant appearance in text: TP53: R174X
PubMed Link: 32696980
Variant Present in the following documents:
  • Main text
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: R174X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Characterization of colibactin-associated mutational signature in an Asian oral squamous cell carcinoma and in other mucosal tumor types.

Genome Research
Boot, Arnoud A; Ng, Alvin W T AWT; Chong, Fui Teen FT; Ho, Szu-Chi SC; Yu, Willie W; Tan, Daniel S W DSW; Iyer, N Gopalakrishna NG; Rozen, Steven G SG
Publication Date: 2020-06

Variant appearance in text: TP53: R174X
PubMed Link: 32661091
Variant Present in the following documents:
  • supp_gr.255620.119_Supplemental_Table_S2.xlsx, sheet 1
View BVdb publication page



Exome sequencing identifies somatic mutations in novel driver genes in non-small cell lung cancer.

Aging
Zhang, Manman M; Zhang, Lele L; Li, Yan Y; Sun, Feng F; Fang, Ya Y; Zhang, Ruijia R; Wu, Jin J; Zhou, Guanbiao G; Song, Huaidong H; Xue, Liqiong L; Han, Bing B; Zheng, Cuixia C
Publication Date: 2020-07-06

Variant appearance in text: TP53: R174X
PubMed Link: 32629428
Variant Present in the following documents:
  • aging-12-103500-s002..xlsx, sheet 1
View BVdb publication page



Genomic profiling of colorectal cancer with isolated lung metastasis.

Cancer Cell International
Zhang, Nan N; Di, Jiabo J; Wang, Zaozao Z; Gao, Pin P; Jiang, Beihai B; Su, Xiangqian X
Publication Date: 2020

Variant appearance in text: TP53: R174X
PubMed Link: 32624706
Variant Present in the following documents:
  • 12935_2020_1373_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications
Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C
Publication Date: 2020-05-05

Variant appearance in text: TP53: R174*
PubMed Link: 32371905
Variant Present in the following documents:
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 5
  • 41467_2020_16067_MOESM23_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM12_ESM.xlsx, sheet 6
  • 41467_2020_16067_MOESM8_ESM.xlsx, sheet 1
  • 41467_2020_16067_MOESM9_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: R174*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: TP53: R174X
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: TP53: R174X
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Phase I/II intra-patient dose escalation study of vorinostat in children with relapsed solid tumor, lymphoma, or leukemia.

Clinical Epigenetics
van Tilburg, Cornelis M CM; Milde, Till T; Witt, Ruth R; Ecker, Jonas J; Hielscher, Thomas T; Seitz, Angelika A; Schenk, Jens-Peter JP; Buhl, Juliane L JL; Riehl, Dennis D; Frühwald, Michael C MC; Pekrun, Arnulf A; Rossig, Claudia C; Wieland, Regina R; Flotho, Christian C; Kordes, Uwe U; Gruhn, Bernd B; Simon, Thorsten T; Linderkamp, Christin C; Sahm, Felix F; Taylor, Lenka L; Freitag, Angelika A; Burhenne, Jürgen J; Foerster, Kathrin I KI; Meid, Andreas D AD; Pfister, Stefan M SM; Karapanagiotou-Schenkel, Irini I; Witt, Olaf O
Publication Date: 2019-12-10

Variant appearance in text: TP53: R174X
PubMed Link: 31823832
Variant Present in the following documents:
  • Main text
  • 13148_2019_Article_775.pdf
View BVdb publication page



The Landscape of KMT2A-PTD AML: Concurrent Mutations, Gene Expression Signatures, and Clinical Outcome.

Hemasphere
Hinai, Adil S A Al ASAA; Pratcorona, Marta M; Grob, Tim T; Kavelaars, François G FG; Bussaglia, Elena E; Sanders, Mathijs A MA; Nomdedeu, Josep J; Valk, Peter J M PJM
Publication Date: 2019-04

Variant appearance in text: TP53: R174X
PubMed Link: 31723820
Variant Present in the following documents:
  • hs9-3-e181-s004.xlsx, sheet 1
View BVdb publication page



Genome landscapes of rectal cancer before and after preoperative chemoradiotherapy.

Theranostics
Yang, Jie J; Lin, Yuan Y; Huang, Ying Y; Jin, Jing J; Zou, Shuangmei S; Zhang, Xiaolong X; Li, Hongmin H; Feng, Ting T; Chen, Jinna J; Zuo, Zhixiang Z; Zheng, Jian J; Li, Yexiong Y; Gao, Ge G; Wu, Chen C; Tan, Wen W; Lin, Dongxin D
Publication Date: 2019

Variant appearance in text: TP53: R174X
PubMed Link: 31660073
Variant Present in the following documents:
  • thnov09p6856s2.xlsx, sheet 7
View BVdb publication page



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: R174X
PubMed Link: 31613886
Variant Present in the following documents:
  • pcbi.1007453.s004.xlsx, sheet 4
  • pcbi.1007453.s004.xlsx, sheet 2
  • pcbi.1007453.s002.xlsx, sheet 1
  • pcbi.1007453.s004.xlsx, sheet 7
View BVdb publication page



DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.

Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Publication Date: 2019-09-19

Variant appearance in text: TP53: R174X
PubMed Link: 31537801
Variant Present in the following documents:
  • 41467_2019_12159_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Spatial Distance Correlates With Genetic Distance in Diffuse Glioma.

Frontiers In Oncology
Gates, Evan D H EDH; Yang, Jie J; Fukumura, Kazutaka K; Lin, Jonathan S JS; Weinberg, Jeffrey S JS; Prabhu, Sujit S SS; Long, Lihong L; Fuentes, David D; Sulman, Erik P EP; Huse, Jason T JT; Schellingerhout, Dawid D
Publication Date: 2019

Variant appearance in text: TP53: R174X
PubMed Link: 31417865
Variant Present in the following documents:
  • Data_Sheet_2.xlsx, sheet 1
View BVdb publication page



Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine
Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J
Publication Date: 2019-09

Variant appearance in text: TP53: R174X
PubMed Link: 31369215
Variant Present in the following documents:
  • CAM4-8-5673-s008.xlsx, sheet 5
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: R174X
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Establishment and genomic characterization of gingivobuccal carcinoma cell lines with smokeless tobacco associated genetic alterations and oncogenic PIK3CA mutation.

Scientific Reports
Pansare, Kshama K; Gardi, Nilesh N; Kamat, Sayee S; Dange, Prerana P; Previn, Rahul R; Gera, Poonam P; Kowtal, Pradnya P; Amin, Kishore K; Sarin, Rajiv R
Publication Date: 2019-06-04

Variant appearance in text: TP53: R174X
PubMed Link: 31164688
Variant Present in the following documents:
  • 41598_2019_44143_MOESM3_ESM.xls, sheet 1
  • 41598_2019_44143_MOESM2_ESM.xls, 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: R174*
PubMed Link: 30858924
Variant Present in the following documents:
  • oncotarget-10-1388-s002.xls, sheet 5
View BVdb publication page



Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: TP53: R174X
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
View BVdb publication page



Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.

Plos One
Olivier, Magali M; Bouaoun, Liacine L; Villar, Stephanie S; Robitaille, Alexis A; Cahais, Vincent V; Heguy, Adriana A; Byrnes, Graham G; Le Calvez-Kelm, Florence F; Torres-Mejía, Gabriela G; Alvarado-Cabrero, Isabel I; Imani-Razavi, Fazlollah Shahram FS; Inés Sánchez, Gloria G; Jaramillo, Roberto R; Porras, Carolina C; Rodriguez, Ana Cecilia AC; Garmendia, Maria Luisa ML; Soto, José Luis JL; Romieu, Isabelle I; Porter, Peggy P; Guenthoer, Jamie J; Rinaldi, Sabina S; ,
Publication Date: 2019

Variant appearance in text: TP53: R174X
PubMed Link: 30653559
Variant Present in the following documents:
  • pone.0210372.s001.xlsx, sheet 3
View BVdb publication page



Decoding Somatic Driver Gene Mutations and Affected Signaling Pathways in Human Medulloblastoma Subgroups.

Journal Of Cancer
Robbins, Charles J CJ; Bou-Dargham, Mayassa J MJ; Sanchez, Kevin K; Rosen, Matthew C MC; Sang, Qing-Xiang Amy QA
Publication Date: 2018

Variant appearance in text: TP53: R174X
PubMed Link: 30588243
Variant Present in the following documents:
  • jcav09p4596s2.xlsx, sheet 1
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: TP53: R174X
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Contribution of allelic imbalance to colorectal cancer.

Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
Publication Date: 2018-09-10

Variant appearance in text: TP53: R174X
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Reports
Campbell, Katie M KM; Lin, Tianxiang T; Zolkind, Paul P; Barnell, Erica K EK; Skidmore, Zachary L ZL; Winkler, Ashley E AE; Law, Jonathan H JH; Mardis, Elaine R ER; Wartman, Lukas D LD; Adkins, Douglas R DR; Chernock, Rebecca D RD; Griffith, Malachi M; Uppaluri, Ravindra R; Griffith, Obi L OL
Publication Date: 2018-08-21

Variant appearance in text: TP53: R174*
PubMed Link: 30134176
Variant Present in the following documents:
  • NIHMS1520774-supplement-Table_S2.xlsx, sheet 1
View BVdb publication page



Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports
Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-08-07

Variant appearance in text: TP53: R174X
PubMed Link: 30087429
Variant Present in the following documents:
  • 41598_2018_30330_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Elucidating therapeutic molecular targets in premenopausal Asian women with recurrent breast cancers.

Npj Breast Cancer
Yap, Yoon-Sim YS; Singh, Angad P AP; Lim, John H C JHC; Ahn, Jin-Hee JH; Jung, Kyung-Hae KH; Kim, Jeongeun J; Dent, Rebecca A RA; Ng, Raymond C H RCH; Kim, Sung-Bae SB; Chiang, Derek Y DY
Publication Date: 2018

Variant appearance in text: TP53: R174*
PubMed Link: 30062102
Variant Present in the following documents:
  • 41523_2018_70_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Targeted Next-Generation Sequencing Identifies Actionable Targets in Estrogen Receptor Positive and Estrogen Receptor Negative Endometriod Endometrial Cancer.

Frontiers In Pharmacology
Suhaimi, Siti Syazani SS; Ab Mutalib, Nurul-Syakima NS; Khor, Sheau S SS; Zain, Reena Rahayu Md RRM; Syafruddin, Saiful Effendi SE; Abu, Nadiah N; Mohd Dali, Ahmad Zailani Hatta AZH; Jamal, Rahman R
Publication Date: 2018

Variant appearance in text: TP53: R174X
PubMed Link: 30057548
Variant Present in the following documents:
  • Data_Sheet_1.xls, sheet 7
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Female genitourinary tract melanoma: mutation analysis with clinicopathologic correlation: a single-institution experience.

Melanoma Research
Saglam, Ozlen O; Naqvi, Syeda M H SMH; Zhang, Yonghong Y; Mesa, Tania T; Teer, Jamie K JK; Yoder, Sean S; Lee, Jae J; Messina, Jane J
Publication Date: 2018-12

Variant appearance in text: TP53: R174X
PubMed Link: 30028779
Variant Present in the following documents:
  • Main text
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Patterns of genomic evolution in advanced melanoma.

Nature Communications
Birkeland, E E; Zhang, S S; Poduval, D D; Geisler, J J; Nakken, S S; Vodak, D D; Meza-Zepeda, L A LA; Hovig, E E; Myklebost, O O; Knappskog, S S; Lønning, P E PE
Publication Date: 2018-07-10

Variant appearance in text: TP53: R174X
PubMed Link: 29991680
Variant Present in the following documents:
  • 41467_2018_5063_MOESM7_ESM.xlsx, sheet 1
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Prognostic significance of frequent CLDN18-ARHGAP26/6 fusion in gastric signet-ring cell cancer.

Nature Communications
Shu, Yang Y; Zhang, Weihan W; Hou, Qianqian Q; Zhao, Linyong L; Zhang, Shouyue S; Zhou, Jiankang J; Song, Xiaohai X; Zhang, Yan Y; Jiang, Dan D; Chen, Xinzu X; Wang, Peiqi P; Xia, Xuyang X; Liao, Fei F; Yin, Dandan D; Chen, Xiaolong X; Zhou, Xueyan X; Zhang, Duyu D; Yin, Senlin S; Yang, Kun K; Liu, Jianping J; Fu, Leilei L; Zhang, Lan L; Wang, Yuelan Y; Zhang, Junlong J; An, Yunfei Y; Cheng, Hua H; Zheng, Bin B; Sun, Hongye H; Zhao, Yinglan Y; Wang, Yongsheng Y; Xie, Dan D; Ouyang, Liang L; Wang, Ping P; Zhang, Wei W; Qiu, Meng M; Fu, Xianghui X; Dai, Lunzhi L; He, Gu G; Yang, Hanshuo H; Cheng, Wei W; Yang, Li L; Liu, Bo B; Li, Weimin W; Dong, Biao B; Zhou, Zongguang Z; Wei, Yuquan Y; Peng, Yong Y; Xu, Heng H; Hu, Jiankun J
Publication Date: 2018-06-30

Variant appearance in text: TP53: R174X
PubMed Link: 29961079
Variant Present in the following documents:
  • 41467_2018_4907_MOESM4_ESM.xlsx, sheet 1
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Targeted deep sequencing of CD34+ cells from peripheral blood can reproduce bone marrow molecular profile in myelodysplastic syndromes.

American Journal Of Hematology
Martin, Roman R; Acha, Pamela P; Ganster, Christina C; Palomo, Laura L; Dierks, Sascha S; Fuster-Tormo, Francisco F; Mallo, Mar M; Ademà, Vera V; Gómez-Marzo, Paula P; De Haro, Nuri N; Solanes, Neus N; Zamora, Lurdes L; Xicoy, Blanca B; Shirneshan, Katayoon K; Flach, Johanna J; Braulke, Friederike F; Schanz, Julie J; Kominowski, Arkadiusz A; Stromburg, Martin M; Brockmann, Alina A; Trümper, Lorenz L; Solé, Francesc F; Haase, Detlef D
Publication Date: 2018-06

Variant appearance in text: TP53: R174X
PubMed Link: 29575088
Variant Present in the following documents:
View BVdb publication page