Publications:

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Combinatorial batching of DNA for ultralow-cost detection of pathogenic variants.

Genome Medicine

Stoltze, Ulrik Kristoffer UK; Hagen, Christian Munch CM; van Overeem Hansen, Thomas T; Byrjalsen, Anna A; Gerdes, Anne-Marie AM; Yakimov, Victor V; Rasmussen, Simon S; Bækvad-Hansen, Marie M; Hougaard, David Michael DM; Schmiegelow, Kjeld K; Hjalgrim, Henrik H; Wadt, Karin K; Bybjerg-Grauholm, Jonas J

Publication Date: 2023-03-14

Variant appearance in text: TP53: Ile254Thr

PubMed Link: 36918911

Variant Present in the following documents:

• Main text
• 13073_2023_Article_1167.pdf

View BVdb publication page

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

Iscience

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

Publication Date: 2022-12-22

Variant appearance in text: TP53: I254T

PubMed Link: 36536675

Variant Present in the following documents:

• mmc3.xls, sheet 1

View BVdb publication page

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Comprehensive clinicopathological and genomic profiling of gallbladder cancer reveals actionable targets in half of patients.

Npj Precision Oncology

de Bitter, Tessa J J TJJ; de Reuver, Philip R PR; de Savornin Lohman, Elise A J EAJ; Kroeze, Leonie I LI; Vink-Börger, Marianne E ME; van Vliet, Shannon S; Simmer, Femke F; von Rhein, Daniel D; Jansen, Erik A M EAM; Verheij, Joanne J; van Herpen, Carla M L CML; Nagtegaal, Iris D ID; Ligtenberg, Marjolijn J L MJL; van der Post, Rachel S RS

Publication Date: 2022-11-05

Variant appearance in text: TP53: 761T>C; Ile254Thr

PubMed Link: 36335173

Variant Present in the following documents:

• 41698_2022_327_MOESM2_ESM.xlsx, sheet 3

View BVdb publication page

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CTCF DNA-binding domain undergoes dynamic and selective protein-protein interactions.

Iscience

Zhou, Rong R; Tian, Kai K; Huang, Jie J; Duan, Wenjia W; Fu, Hongye H; Feng, Ying Y; Wang, Hui H; Jiang, Yongpeng Y; Li, Yuanjun Y; Wang, Rui R; Hu, Jiazhi J; Ma, Hanhui H; Qi, Zhi Z; Ji, Xiong X

Publication Date: 2022-09-16

Variant appearance in text: p53: 761T>C

PubMed Link: 36117989

Variant Present in the following documents:

• mmc4.xlsx, sheet 1

View BVdb publication page

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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: I254T

PubMed Link: 36071046

Variant Present in the following documents:

• 41467_2022_32962_MOESM15_ESM.xlsx, sheet 22

View BVdb publication page

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Unique Growth Pattern Presentation of a Papillary Renal Cell Carcinoma.

Diagnostics (Basel, Switzerland)

Harich, Octavia Oana OO; Olteanu, Gheorghe-Emilian GE; Mihai, Ioana Maria IM; Benta, Marius M; Isabella, Gavriliuc Oana GO; Virgil, Paunescu P; Bojin, Florina Maria FM

Publication Date: 2022-08-06

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 36010254

Variant Present in the following documents:

• diagnostics-12-01904.pdf

View BVdb publication page

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Prognostic value of baseline genetic features and newly identified TP53 mutations in advanced breast cancer.

Molecular Oncology

Zhang, Lanxin L; Sun, Siwen S; Zhao, Xiaotian X; Liu, Jingwen J; Xu, Yang Y; Xu, Lingzhi L; Song, Chen C; Li, Na N; Yu, Jing J; Zhao, Shanshan S; Yu, Peiyao P; Fang, Fengqi F; Xie, Jiping J; Ji, Xuening X; Yu, Ruoying R; Ou, Qiuxiang Q; Zhao, Zuowei Z; Li, Man M

Publication Date: 2022-10

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 35971249

Variant Present in the following documents:

• MOL2-16-3689-s003.xlsx, sheet 1
• MOL2-16-3689-s005.xlsx, sheet 1

View BVdb publication page

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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: I254T

PubMed Link: 35871175

Variant Present in the following documents:

• 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1

View BVdb publication page

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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: 761T>C

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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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: 761T>C; I254T

PubMed Link: 35814426

Variant Present in the following documents:

• DataSheet_1.xlsx, sheet 2

View BVdb publication page

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p53 wild-type colorectal cancer cells that express a fetal gene signature are associated with metastasis and poor prognosis.

Nature Communications

Solé, Laura L; Lobo-Jarne, Teresa T; Álvarez-Villanueva, Daniel D; Alonso-Marañón, Josune J; Guillén, Yolanda Y; Guix, Marta M; Sangrador, Irene I; Rozalén, Catalina C; Vert, Anna A; Barbachano, Antonio A; Lop, Joan J; Salido, Marta M; Bellosillo, Beatriz B; García-Romero, Raquel R; Garrido, Marta M; González, Jessica J; Martínez-Iniesta, María M; López-Arribillaga, Erika E; Salazar, Ramón R; Montagut, Clara C; Torres, Ferrán F; Iglesias, Mar M; Celià-Terrassa, Toni T; Muñoz, Alberto A; Villanueva, Alberto A; Bigas, Anna A; Espinosa, Lluís L

Publication Date: 2022-05-23

Variant appearance in text: TP53: I254T

PubMed Link: 35606354

Variant Present in the following documents:

• 41467_2022_30382_MOESM1_ESM.pdf

View BVdb publication page

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Response prediction and risk stratification of patients with rectal cancer after neoadjuvant therapy through an analysis of circulating tumour DNA.

Ebiomedicine

Liu, Wenyang W; Li, Yifei Y; Tang, Yuan Y; Song, Qianqian Q; Wang, Jingjing J; Li, Ning N; Chen, Silin S; Shi, Jinming J; Wang, Shulian S; Li, Yexiong Y; Jiao, Yuchen Y; Zeng, Yixin Y; Jin, Jing J

Publication Date: 2022-04

Variant appearance in text: TP53: 761T>C

PubMed Link: 35306340

Variant Present in the following documents:

• mmc3.xlsx, sheet 2

View BVdb publication page

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Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Molecular Oncology

Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C

Publication Date: 2022-05

Variant appearance in text: TP53: I254T

PubMed Link: 34866317

Variant Present in the following documents:

• MOL2-16-1969-s001.pdf

View BVdb publication page

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Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Frontiers In Endocrinology

Hescheler, Daniel A DA; Riemann, Burkhard B; Hartmann, Milan J M MJM; Michel, Maximilian M; Faust, Michael M; Bruns, Christiane J CJ; Alakus, Hakan H; Chiapponi, Costanza C

Publication Date: 2021

Variant appearance in text: TP53: I254T

PubMed Link: 34630336

Variant Present in the following documents:

• Table_1.xlsx, sheet 2

View BVdb publication page

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A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports

Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM

Publication Date: 2021-07-12

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 34253785

Variant Present in the following documents:

• 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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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: 761T>C; I254T

PubMed Link: 33704917

Variant Present in the following documents:

• TCA-12-1271-s003.xls, sheet 1

View BVdb publication page

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

Jama Oncology

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

Publication Date: 2021-04-01

Variant appearance in text: TP53: I254T

PubMed Link: 33630025

Variant Present in the following documents:

• jamaoncol-e207987-s004.xlsx, sheet 2

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 761T>C

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM2_ESM.pdf

View BVdb publication page

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Identification and functional characterization of new missense SNPs in the coding region of the TP53 gene.

Cell Death And Differentiation

Doffe, Flora F; Carbonnier, Vincent V; Tissier, Manon M; Leroy, Bernard B; Martins, Isabelle I; Mattsson, Johanna S M JSM; Micke, Patrick P; Pavlova, Sarka S; Pospisilova, Sarka S; Smardova, Jana J; Joerger, Andreas C AC; Wiman, Klas G KG; Kroemer, Guido G; Soussi, Thierry T

Publication Date: 2021-05

Variant appearance in text: TP53: 761T>C

PubMed Link: 33257846

Variant Present in the following documents:

• Main text
• 41418_2020_Article_672.pdf
• 41418_2020_672_MOESM2_ESM.pdf

View BVdb publication page

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High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Ebiomedicine

Toulmonde, Maud M; Lucchesi, Carlo C; Verbeke, Stéphanie S; Crombe, Amandine A; Adam, Julien J; Geneste, Damien D; Chaire, Vanessa V; Laroche-Clary, Audrey A; Perret, Raul R; Bertucci, François F; Bertolo, Frederic F; Bianchini, Laurence L; Dadone-Montaudie, Bérengère B; Hembrough, Todd T; Sweet, Steve S; Kim, Yeoun Jin YJ; Cecchi, Fabiola F; Le Loarer, François F; Italiano, Antoine A

Publication Date: 2020-12

Variant appearance in text: TP53: 761T>C

PubMed Link: 33254023

Variant Present in the following documents:

• mmc5.xlsx, sheet 1

View BVdb publication page

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Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.

Journal For Immunotherapy Of Cancer

Hong, Tae Hee TH; Cha, Hongui H; Shim, Joon Ho JH; Lee, Boram B; Chung, Jongsuk J; Lee, Chung C; Kim, Nayoung K D NKD; Choi, Yoon-La YL; Hwang, Soohyun S; Lee, Yoomi Y; Park, Sehhoon S; Jung, Hyun Ae HA; Kim, Ji-Yeon JY; Park, Yeon Hee YH; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Lee, Se-Hoon SH; Park, Woong-Yang WY

Publication Date: 2020-10

Variant appearance in text: TP53: I254T

PubMed Link: 33077514

Variant Present in the following documents:

• jitc-2020-001199supp002.pdf

View BVdb publication page

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SET Domain Containing 2 Deficiency in Myelodysplastic Syndrome.

Frontiers In Genetics

Li, Jiaming J; Peng, Zhenping Z; Luo, Fangxiu F; Chen, Yu Y

Publication Date: 2020

Variant appearance in text: TP53: I254T

PubMed Link: 32849799

Variant Present in the following documents:

• Presentation_1.pdf

View BVdb publication page

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Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Nature Communications

Pandey, Akhilesh A; Stawiski, Eric W EW; Durinck, Steffen S; Gowda, Harsha H; Goldstein, Leonard D LD; Barbhuiya, Mustafa A MA; Schröder, Markus S MS; Sreenivasamurthy, Sreelakshmi K SK; Kim, Sun-Whe SW; Phalke, Sameer S; Suryamohan, Kushal K; Lee, Kayla K; Chakraborty, Papia P; Kode, Vasumathi V; Shi, Xiaoshan X; Chatterjee, Aditi A; Datta, Keshava K; Khan, Aafaque A AA; Subbannayya, Tejaswini T; Wang, Jing J; Chaudhuri, Subhra S; Gupta, Sanjiv S; Shrivastav, Braj Raj BR; Jaiswal, Bijay S BS; Poojary, Satish S SS; Bhunia, Shushruta S; Garcia, Patricia P; Bizama, Carolina C; Rosa, Lorena L; Kwon, Wooil W; Kim, Hongbeom H; Han, Youngmin Y; Yadav, Thakur Deen TD; Ramprasad, Vedam L VL; Chaudhuri, Amitabha A; Modrusan, Zora Z; Roa, Juan Carlos JC; Tiwari, Pramod Kumar PK; Jang, Jin-Young JY; Seshagiri, Somasekar S

Publication Date: 2020-08-24

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 32839463

Variant Present in the following documents:

• 41467_2020_17880_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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Defining relative mutational difficulty to understand cancer formation.

Cell Discovery

Shan, Lin L; Yu, Jiao J; He, Zhengjin Z; Chen, Shishuang S; Liu, Mingxian M; Ding, Hongyu H; Xu, Liang L; Zhao, Jie J; Yang, Ailing A; Jiang, Hai H

Publication Date: 2020

Variant appearance in text: p53: I254T

PubMed Link: 32704382

Variant Present in the following documents:

• 41421_2020_177_MOESM6_ESM.xlsx, sheet 1
• 41421_2020_177_MOESM5_ESM.xlsx, sheet 1

View BVdb publication page

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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: I254T

PubMed Link: 32686686

Variant Present in the following documents:

• 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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The first malignant primary hepatic glomus tumor: A case report.

International Journal Of Surgery Case Reports

Aversa, John G JG; Monroe, Cara C; Levi, Amelia A; Papanicolau-Sengos, Antonios A; Kleiner, David E DE; Hernandez, Jonathan M JM

Publication Date: 2020

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 32422580

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association

Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H

Publication Date: 2020-07

Variant appearance in text: TP53: I254T

PubMed Link: 32107691

Variant Present in the following documents:

• 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12

View BVdb publication page

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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: I254T

PubMed Link: 31844144

Variant Present in the following documents:

• 41375_2019_691_MOESM7_ESM.xlsx, sheet 2

View BVdb publication page

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Therapeutic targeting of mutant p53 in pediatric acute lymphoblastic leukemia.

Haematologica

Demir, Salih S; Boldrin, Elena E; Sun, Qian Q; Hampp, Stephanie S; Tausch, Eugen E; Eckert, Cornelia C; Ebinger, Martin M; Handgretinger, Rupert R; Kronnie, Geertruy Te GT; Wiesmüller, Lisa L; Stilgenbauer, Stephan S; Selivanova, Galina G; Debatin, Klaus-Michael KM; Meyer, Lüder Hinrich LH

Publication Date: 2020-01

Variant appearance in text: TP53: I254T

PubMed Link: 31073076

Variant Present in the following documents:

• Main text
• 1050170.pdf

View BVdb publication page

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Finding driver mutations in cancer: Elucidating the role of background mutational processes.

Plos Computational Biology

Brown, Anna-Leigh AL; Li, Minghui M; Goncearenco, Alexander A; Panchenko, Anna R AR

Publication Date: 2019-04

Variant appearance in text: TP53: I254T

PubMed Link: 31034466

Variant Present in the following documents:

• pcbi.1006981.s010.xlsx, sheet 1

View BVdb publication page

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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: 761T>C; I254T

PubMed Link: 30886117

Variant Present in the following documents:

• supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page

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Germ-line and somatic EPHA2 coding variants in lens aging and cataract.

Plos One

Bennett, Thomas M TM; M'Hamdi, Oussama O; Hejtmancik, J Fielding JF; Shiels, Alan A

Publication Date: 2017

Variant appearance in text: TP53: I254T

PubMed Link: 29267365

Variant Present in the following documents:

• pone.0189881.s007.xlsx, sheet 1

View BVdb publication page

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Mitochondrial mutations drive prostate cancer aggression.

Nature Communications

Hopkins, Julia F JF; Sabelnykova, Veronica Y VY; Weischenfeldt, Joachim J; Simon, Ronald R; Aguiar, Jennifer A JA; Alkallas, Rached R; Heisler, Lawrence E LE; Zhang, Junyan J; Watson, John D JD; Chua, Melvin L K MLK; Fraser, Michael M; Favero, Francesco F; Lawerenz, Chris C; Plass, Christoph C; Sauter, Guido G; McPherson, John D JD; van der Kwast, Theodorus T; Korbel, Jan J; Schlomm, Thorsten T; Bristow, Robert G RG; Boutros, Paul C PC

Publication Date: 2017-09-22

Variant appearance in text: TP53: I254T

PubMed Link: 28939825

Variant Present in the following documents:

• Main text
• 41467_2017_Article_377.pdf

View BVdb publication page

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Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications

Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ

Publication Date: 2017-08-04

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 28775315

Variant Present in the following documents:

• 41467_2017_289_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Germline TP53 mutations result into a constitutive defect of p53 DNA binding and transcriptional response to DNA damage.

Human Molecular Genetics

Zerdoumi, Yasmine Y; Lanos, Raphaël R; Raad, Sabine S; Flaman, Jean-Michel JM; Bougeard, Gaëlle G; Frebourg, Thierry T; Tournier, Isabelle I

Publication Date: 2017-07-15

Variant appearance in text: p53: 761T>C

PubMed Link: 28369373

Variant Present in the following documents:

• Main text
• ddx106.pdf

View BVdb publication page

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: TP53: I254T

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1
• srep31321-s5.xls, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: TP53: I254T

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Genomic landscape of cutaneous T cell lymphoma.

Nature Genetics

Choi, Jaehyuk J; Goh, Gerald G; Walradt, Trent T; Hong, Bok S BS; Bunick, Christopher G CG; Chen, Kan K; Bjornson, Robert D RD; Maman, Yaakov Y; Wang, Tiffany T; Tordoff, Jesse J; Carlson, Kacie K; Overton, John D JD; Liu, Kristina J KJ; Lewis, Julia M JM; Devine, Lesley L; Barbarotta, Lisa L; Foss, Francine M FM; Subtil, Antonio A; Vonderheid, Eric C EC; Edelson, Richard L RL; Schatz, David G DG; Boggon, Titus J TJ; Girardi, Michael M; Lifton, Richard P RP

Publication Date: 2015-09

Variant appearance in text: TP53: I254T

PubMed Link: 26192916

Variant Present in the following documents:

• Main text
• NIHMS702568-supplement-1.pdf
• nihms702568.pdf

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Prevalence and functional consequence of TP53 mutations in pediatric adrenocortical carcinoma: a children's oncology group study.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology

Wasserman, Jonathan D JD; Novokmet, Ana A; Eichler-Jonsson, Claudia C; Ribeiro, Raul C RC; Rodriguez-Galindo, Carlos C; Zambetti, Gerard P GP; Malkin, David D

Publication Date: 2015-02-20

Variant appearance in text: p53: I254T

PubMed Link: 25584008

Variant Present in the following documents:

• Main text

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Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.

Genome Biology

Martelotto, Luciano G LG; Ng, Charlotte Ky CK; De Filippo, Maria R MR; Zhang, Yan Y; Piscuoglio, Salvatore S; Lim, Raymond S RS; Shen, Ronglai R; Norton, Larry L; Reis-Filho, Jorge S JS; Weigelt, Britta B

Publication Date: 2014-10-28

Variant appearance in text: TP53: I254T

PubMed Link: 25348012

Variant Present in the following documents:

• 13059_2014_484_MOESM2_ESM.xlsx, sheet 1

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Detection of TP53 dysfunction in chronic lymphocytic leukemia by an in vitro functional assay based on TP53 activation by the non-genotoxic drug Nutlin-3: a proposal for clinical application.

Journal Of Hematology & Oncology

Pozzo, Federico F; Dal Bo, Michele M; Peragine, Nadia N; Bomben, Riccardo R; Zucchetto, Antonella A; Rossi, Francesca F; Degan, Massimo M; Rossi, Davide D; Chiarenza, Annalisa A; Grossi, Alberto A; Di Raimondo, Francesco F; Zaja, Francesco F; Pozzato, Gabriele G; Secchiero, Paola P; Gaidano, Gianluca G; Del Poeta, Giovanni G; Zauli, Giorgio G; Fo À, Robin R; Guarini, Anna A; Gattei, Valter V

Publication Date: 2013-11-05

Variant appearance in text: TP53: 761T>C; I254T

PubMed Link: 24283248

Variant Present in the following documents:

• 1756-8722-6-83-S1.pdf

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Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research

Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C

Publication Date: 2011-09-01

Variant appearance in text: TP53: I254T

PubMed Link: 21727090

Variant Present in the following documents:

• supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1

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Mutations in Rb1 pathway-related genes are associated with poor prognosis in anaplastic astrocytomas.

British Journal Of Cancer

Bäcklund, L M LM; Nilsson, B R BR; Liu, L L; Ichimura, K K; Collins, V P VP

Publication Date: 2005-07-11

Variant appearance in text: TP53: I254T

PubMed Link: 15970925

Variant Present in the following documents:

• Main text
• 93-6602661a.pdf

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