TP53 c.681dup ;(p.D228*)

Variant ID: 17-7577599-C-CA

NM_000546.5(TP53):c.681dup;(p.D228*)

This variant was identified in 20 publications

View GRCh38 version.




Publications:


Dynamic BH3 profiling identifies pro-apoptotic drug combinations for the treatment of malignant pleural mesothelioma.

Nature Communications
Potter, Danielle S DS; Du, Ruochen R; Bohl, Stephan R SR; Chow, Kin-Hoe KH; Ligon, Keith L KL; Bueno, Raphael R; Letai, Anthony A
Publication Date: 2023-05-20

Variant appearance in text: TP53: 681dupT; D228*
PubMed Link: 37210412
Variant Present in the following documents:
  • 41467_2023_38552_MOESM1_ESM.pdf
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: 681dup; Asp228Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Clinical impact of TP53 disruption in chronic lymphocytic leukemia patients treated with ibrutinib: a campus CLL study.

Leukemia
Bomben, Riccardo R; Rossi, Francesca Maria FM; Vit, Filippo F; Bittolo, Tamara T; Zucchetto, Antonella A; Papotti, Robel R; Tissino, Erika E; Pozzo, Federico F; Degan, Massimo M; Polesel, Jerry J; Bulian, Pietro P; Marasca, Roberto R; Reda, Gianluigi G; Laurenti, Luca L; Olivieri, Jacopo J; Chiarenza, Annalisa A; Laureana, Roberta R; Postorino, Massimiliano M; Del Principe, Maria Ilaria MI; Cuneo, Antonio A; Gentile, Massimo M; Morabito, Fortunato F; Fronza, Gilberto G; Tafuri, Agostino A; Zaja, Francesco F; Foà, Robin R; Di Raimondo, Francesco F; Del Poeta, Giovanni G; Gattei, Valter V
Publication Date: 2023-02-18

Variant appearance in text: TP53: 681dup; D228*
PubMed Link: 36807650
Variant Present in the following documents:
  • 41375_2023_1845_MOESM1_ESM.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: N/A
PubMed Link: 35871175
Variant Present in the following documents:
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: 681dupT
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
View BVdb publication page



Application of mTORC1 Inhibitors for Tissue-Agnostic Management of Standard-Therapy-Refractory Solid Tumors.

Cancers
Taghizadeh, Hossein H; Maj-Hes, Agnieszka A; Prager, Gerald W GW; Müllauer, Leonhard L; Mader, Robert M RM
Publication Date: 2022-04-12

Variant appearance in text: TP53: 681dup
PubMed Link: 35454843
Variant Present in the following documents:
  • cancers-14-01936.pdf
View BVdb publication page



The Mutational Landscape of Early-Onset Breast Cancer: A Next-Generation Sequencing Analysis.

Frontiers In Oncology
Andrikopoulou, Angeliki A; Chatzinikolaou, Spyridoula S; Kyriopoulos, Ilias I; Bletsa, Garyfalia G; Kaparelou, Maria M; Liontos, Michalis M; Dimopoulos, Meletios-Athanasios MA; Zagouri, Flora F
Publication Date: 2021

Variant appearance in text: TP53: 681_682insT; Asp228Ter
PubMed Link: 35127508
Variant Present in the following documents:
  • Main text
  • fonc-11-797505.pdf
View BVdb publication page



PD-L1 for gallbladder cancer: case report.

Translational Cancer Research
Li, Xiaodong X; Xian, Qingying Q; Yan, Haijiao H; Lu, Lu L; Wang, Qi Q; Zhu, Danxia D; Wu, Jun J
Publication Date: 2020-05

Variant appearance in text: TP53: Asp228fs
PubMed Link: 35117737
Variant Present in the following documents:
  • Main text
  • tcr-09-05-3742.pdf
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: 681dup; D228*
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



Targeted Next-Generation Sequencing Combined With Circulating-Free DNA Deciphers Spatial Heterogeneity of Resected Multifocal Hepatocellular Carcinoma.

Frontiers In Immunology
Lin, Jianzhen J; Zhao, Songhui S; Wang, Dongxu D; Song, Yang Y; Che, Yue Y; Yang, Xu X; Mao, Jinzhu J; Xie, Fucun F; Long, Junyu J; Bai, Yi Y; Yang, Xiaobo X; Zhang, Lei L; Bian, Jin J; Lu, Xin X; Sang, Xinting X; Pan, Jie J; Wang, Kai K; Zhao, Haitao H
Publication Date: 2021

Variant appearance in text: TP53: 681dup
PubMed Link: 34211467
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



p53 is associated with high-risk and pinpoints TP53 missense mutations in mantle cell lymphoma.

British Journal Of Haematology
Rodrigues, Joana M JM; Hassan, May M; Freiburghaus, Catja C; Eskelund, Christian W CW; Geisler, Christian C; Räty, Riikka R; Kolstad, Arne A; Sundström, Christer C; Glimelius, Ingrid I; Grønbaek, Kirsten K; Kwiecinska, Anna A; Porwit, Anna A; Jerkeman, Mats M; Ek, Sara S
Publication Date: 2020-12

Variant appearance in text: TP53: 681dup
PubMed Link: 32748433
Variant Present in the following documents:
  • BJH-191-796-s003.pdf
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: 681dupT
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 13
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
View BVdb publication page



Analysis of solid tumor mutation profiles in liquid biopsy.

Cancer Medicine
Balaji, Sai A SA; Shanmugam, Ashwini A; Chougule, Anuradha A; Sridharan, Srikant S; Prabhash, Kumar K; Arya, Anuradha A; Chaubey, Aditya A; Hariharan, Arun A; Kolekar, Pandurang P; Sen, Manimala M; Ravichandran, Aarthi A; Katragadda, Shanmukh S; Sankaran, Satish S; Bhargava, Saurabh S; Kulkarni, Prashanth P; Rao, Suchitra S; Sunkavalli, Chinnababu C; Banavali, Shripad S; Joshi, Amit A; Noronha, Vanita V; Dutt, Amit A; Bahadur, Urvashi U; Hariharan, Ramesh R; Veeramachaneni, Vamsi V; Gupta, Vaijayanti V
Publication Date: 2018-11

Variant appearance in text: TP53: Asp228fs
PubMed Link: 30264478
Variant Present in the following documents:
  • CAM4-7-5439-s004.xlsx, sheet 6
  • CAM4-7-5439-s004.xlsx, sheet 3
  • CAM4-7-5439-s003.xlsx, sheet 6
  • CAM4-7-5439-s003.xlsx, sheet 3
View BVdb publication page



Heterogeneous mutation pattern in tumor tissue and circulating tumor DNA warrants parallel NGS panel testing.

Molecular Cancer
Guo, Qiaomei Q; Wang, Junlei J; Xiao, Jianfeng J; Wang, Lin L; Hu, Xiaomeng X; Yu, Wenjun W; Song, Gang G; Lou, Jiatao J; Chen, JianFeng J
Publication Date: 2018-08-28

Variant appearance in text: TP53: 681dupT; Asp228Ter
PubMed Link: 30153823
Variant Present in the following documents:
  • 12943_2018_875_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



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: 681dupT
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
  • 41422_2018_39_MOESM20_ESM.xls, sheet 1
View BVdb publication page



Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21

Variant appearance in text: TP53: 681_682insT; D228fs
PubMed Link: 29245897
Variant Present in the following documents:
  • oncotarget-08-99237-s003.xlsx, sheet 1
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TP53: 680_681insT; D228fs*1
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Assessing mutant p53 in primary high-grade serous ovarian cancer using immunohistochemistry and massively parallel sequencing.

Scientific Reports
Cole, Alexander J AJ; Dwight, Trisha T; Gill, Anthony J AJ; Dickson, Kristie-Ann KA; Zhu, Ying Y; Clarkson, Adele A; Gard, Gregory B GB; Maidens, Jayne J; Valmadre, Susan S; Clifton-Bligh, Roderick R; Marsh, Deborah J DJ
Publication Date: 2016-05-18

Variant appearance in text: p53: 681_682insT
PubMed Link: 27189670
Variant Present in the following documents:
  • srep26191-s1.pdf
View BVdb publication page



Assessing the clinical value of targeted massively parallel sequencing in a longitudinal, prospective population-based study of cancer patients.

British Journal Of Cancer
Wong, S Q SQ; Fellowes, A A; Doig, K K; Ellul, J J; Bosma, T J TJ; Irwin, D D; Vedururu, R R; Tan, A Y-C AY; Weiss, J J; Chan, K S KS; Lucas, M M; Thomas, D M DM; Dobrovic, A A; Parisot, J P JP; Fox, S B SB
Publication Date: 2015-04-14

Variant appearance in text: p53: 680_681insT
PubMed Link: 25742471
Variant Present in the following documents:
  • bjc201580x7.xls, sheet 1
View BVdb publication page



Preexisting TP53 mutation in therapy-related acute myeloid leukemia.

Annals Of Hematology
Schulz, Eduard E; Kashofer, Karl K; Heitzer, Ellen E; Mhatre, Ketaki N KN; Speicher, Michael R MR; Hoefler, Gerald G; Sill, Heinz H
Publication Date: 2015-03

Variant appearance in text: TP53: 681_681dupT
PubMed Link: 25135451
Variant Present in the following documents:
  • 277_2014_2191_MOESM1_ESM.pdf
View BVdb publication page