TP53 c.754C>T ;(p.L252F)

Variant ID: 17-7577527-G-A

NM_000546.5(TP53):c.754C>T;(p.L252F)

This variant was identified in 21 publications

View GRCh38 version.




Publications:


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: 754C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: TP53: 754C>T
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



Prevalence of Germline Sequence Variations Among Patients With Pancreatic Cancer in China.

Jama Network Open
Yin, Lingdi L; Wei, Jishu J; Lu, Zipeng Z; Huang, Shimeng S; Gao, Hao H; Chen, Jianmin J; Guo, Feng F; Tu, Min M; Xiao, Bin B; Xi, Chunhua C; Zhang, Kai K; Li, Qiang Q; Wu, Junli J; Gao, Wentao W; Jiang, Kuirong K; Yu, Jun J; Miao, Yi Y
Publication Date: 2022-02-01

Variant appearance in text: TP53: 754C>T
PubMed Link: 35171259
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: L252F
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
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: 754C>T; L252F
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
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: L252F
PubMed Link: 34097174
Variant Present in the following documents:
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2
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: 754C>T; L252F
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
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: 754C>T; L252F
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_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: L252F
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



TP53 Mutation Analysis in Gastric Cancer and Clinical Outcomes of Patients with Metastatic Disease Treated with Ramucirumab/Paclitaxel or Standard Chemotherapy.

Cancers
Graziano, Francesco F; Fischer, Nicholas W NW; Bagaloni, Irene I; Di Bartolomeo, Maria M; Lonardi, Sara S; Vincenzi, Bruno B; Perrone, Giuseppe G; Fornaro, Lorenzo L; Ongaro, Elena E; Aprile, Giuseppe G; Bisonni, Renato R; Prisciandaro, Michele M; Malkin, David D; Gariépy, Jean J; Fassan, Matteo M; Loupakis, Fotios F; Sarti, Donatella D; Del Prete, Michela M; Catalano, Vincenzo V; Alessandroni, Paolo P; Magnani, Mauro M; Ruzzo, Annamaria A
Publication Date: 2020-07-24

Variant appearance in text: TP53: L252F
PubMed Link: 32722340
Variant Present in the following documents:
  • Main text
  • cancers-12-02049.pdf
View BVdb publication page



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: L252F
PubMed Link: 32704382
Variant Present in the following documents:
  • 41421_2020_177_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



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: L252F
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 12
View BVdb publication page



Prospective study of the efficacy and utility of TP53 mutations in circulating tumor DNA as a non-invasive biomarker of treatment response monitoring in patients with high-grade serous ovarian carcinoma.

Journal Of Gynecologic Oncology
Kim, Yong Man YM; Lee, Shin Wha SW; Lee, Young Jae YJ; Lee, Ha Young HY; Lee, Jong Eun JE; Choi, Eun Kyung EK
Publication Date: 2019-05

Variant appearance in text: TP53: L252F
PubMed Link: 30887755
Variant Present in the following documents:
  • jgo-30-e32-s004.xls, sheet 1
View BVdb publication page



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: 754C>T; L252F
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.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: 754C>T; L252F
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



REGene: a literature-based knowledgebase of animal regeneration that bridge tissue regeneration and cancer.

Scientific Reports
Zhao, Min M; Rotgans, Bronwyn B; Wang, Tianfang T; Cummins, S F SF
Publication Date: 2016-03-15

Variant appearance in text: TP53: L252F
PubMed Link: 26975833
Variant Present in the following documents:
  • srep23167-s9.xls, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: p53: L252F
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



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: L252F
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



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: L252F
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



p53 suppresses type II endometrial carcinomas in mice and governs endometrial tumour aggressiveness in humans.

Embo Molecular Medicine
Wild, Peter J PJ; Ikenberg, Kristian K; Fuchs, Thomas J TJ; Rechsteiner, Markus M; Georgiev, Strahil S; Fankhauser, Niklaus N; Noske, Aurelia A; Roessle, Matthias M; Caduff, Rosmarie R; Dellas, Athanassios A; Fink, Daniel D; Moch, Holger H; Krek, Wilhelm W; Frew, Ian J IJ
Publication Date: 2012-08

Variant appearance in text: p53: L252F
PubMed Link: 22678923
Variant Present in the following documents:
  • emmm0004-0808-SD2.pdf
View BVdb publication page



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: L252F
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page