TP53 c.775G>C ;(p.D259H)

Variant ID: 17-7577506-C-G

NM_000546.5(TP53):c.775G>C;(p.D259H)

This variant was identified in 25 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: 775G>C
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
  • mmc5.xlsx, sheet 1
View BVdb publication page



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: 775G>C
PubMed Link: 35306340
Variant Present in the following documents:
  • mmc3.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: 775G>C; D259H
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



EGFR-Mutated Squamous Cell Lung Cancer and Its Association With Outcomes.

Frontiers In Oncology
Jin, Rui R; Peng, Ling L; Shou, Jiawei J; Wang, Jin J; Jin, Yin Y; Liang, Fei F; Zhao, Jing J; Wu, Mengmeng M; Li, Qin Q; Zhang, Bin B; Wu, Xiaoying X; Lan, Fen F; Xia, Lixia L; Yan, Junrong J; Shao, Yang Y; Stebbing, Justin J; Shen, Huahao H; Li, Wen W; Xia, Yang Y
Publication Date: 2021

Variant appearance in text: TP53: 775G>C; D259H
PubMed Link: 34195081
Variant Present in the following documents:
  • Table_2.xlsx, sheet 2
View BVdb publication page



Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients.

Genome Medicine
Tsui, Dana W Y DWY; Cheng, Michael L ML; Shady, Maha M; Yang, Julie L JL; Stephens, Dennis D; Won, Helen H; Srinivasan, Preethi P; Huberman, Kety K; Meng, Fanli F; Jing, Xiaohong X; Patel, Juber J; Hasan, Maysun M; Johnson, Ian I; Gedvilaite, Erika E; Houck-Loomis, Brian B; Socci, Nicholas D ND; Selcuklu, S Duygu SD; Seshan, Venkatraman E VE; Zhang, Hongxin H; Chakravarty, Debyani D; Zehir, Ahmet A; Benayed, Ryma R; Arcila, Maria M; Ladanyi, Marc M; Funt, Samuel A SA; Feldman, Darren R DR; Li, Bob T BT; Razavi, Pedram P; Rosenberg, Jonathan J; Bajorin, Dean D; Iyer, Gopa G; Abida, Wassim W; Scher, Howard I HI; Rathkopf, Dana D; Viale, Agnes A; Berger, Michael F MF; Solit, David B DB
Publication Date: 2021-05-31

Variant appearance in text: TP53: D259H
PubMed Link: 34059130
Variant Present in the following documents:
  • 13073_2021_898_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genetic alteration of Chinese patients with rectal mucosal melanoma.

Bmc Cancer
Li, Huan H; Yang, Lujing L; Lai, Yumei Y; Wang, Xintong X; Han, Xinyin X; Liu, Siyao S; Wang, Dongliang D; Li, Xiaojuan X; Hu, Nana N; Kong, Yan Y; Si, Lu L; Li, Zhongwu Z
Publication Date: 2021-05-27

Variant appearance in text: TP53: 775G>C; D259H
PubMed Link: 34044811
Variant Present in the following documents:
  • 12885_2021_8383_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



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

Jama Oncology
Cobain, Erin F EF; Wu, Yi-Mi YM; Vats, Pankaj P; Chugh, Rashmi R; Worden, Francis F; Smith, David C DC; Schuetze, Scott M SM; Zalupski, Mark M MM; Sahai, Vaibhav V; Alva, Ajjai A; Schott, Anne F AF; Caram, Megan E V MEV; Hayes, Daniel F DF; Stoffel, Elena M EM; Jacobs, Michelle F MF; Kumar-Sinha, Chandan C; Cao, Xuhong X; Wang, Rui R; Lucas, David D; Ning, Yu Y; Rabban, Erica E; Bell, Janice J; Camelo-Piragua, Sandra S; Udager, Aaron M AM; Cieslik, Marcin M; Lonigro, Robert J RJ; Kunju, Lakshmi P LP; Robinson, Dan R DR; Talpaz, Moshe M; Chinnaiyan, Arul M AM
Publication Date: 2021-04-01

Variant appearance in text: TP53: D259H
PubMed Link: 33630025
Variant Present in the following documents:
  • jamaoncol-e207987-s004.xlsx, sheet 2
View BVdb publication page



Characterization of the genomic landscape and actionable mutations in Chinese breast cancers by clinical sequencing.

Nature Communications
Lang, Guan-Tian GT; Jiang, Yi-Zhou YZ; Shi, Jin-Xiu JX; Yang, Fan F; Li, Xiao-Guang XG; Pei, Yu-Chen YC; Zhang, Chen-Hui CH; Ma, Ding D; Xiao, Yi Y; Hu, Peng-Chen PC; Wang, Hai H; Yang, Yun-Song YS; Guo, Lin-Wei LW; Lu, Xun-Xi XX; Xue, Meng-Zhu MZ; Wang, Peng P; Cao, A-Yong AY; Ling, Hong H; Wang, Zhong-Hua ZH; Yu, Ke-Da KD; Di, Gen-Hong GH; Li, Da-Qiang DQ; Wang, Yun-Jin YJ; Yu, Ying Y; Shi, Le-Ming LM; Hu, Xin X; Huang, Wei W; Shao, Zhi-Ming ZM
Publication Date: 2020-11-10

Variant appearance in text: TP53: D259H
PubMed Link: 33173047
Variant Present in the following documents:
  • 41467_2020_19342_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: TP53: D259H
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Discovery of actionable genetic alterations with targeted panel sequencing in children with relapsed or refractory solid tumors.

Plos One
Lee, Ji Won JW; Kim, Nayoung K D NKD; Lee, Soo Hyun SH; Cho, Hee Won HW; Ma, Youngeun Y; Ju, Hee Young HY; Yoo, Keon Hee KH; Sung, Ki Woong KW; Koo, Hong Hoe HH; Park, Woong-Yang WY
Publication Date: 2019

Variant appearance in text: TP53: D259H
PubMed Link: 31747416
Variant Present in the following documents:
  • pone.0224227.s002.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: TP53: Asp259His
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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: D259H
PubMed Link: 31034466
Variant Present in the following documents:
  • pcbi.1006981.s010.xlsx, sheet 1
View BVdb publication page



Clinical Relevance of Genomic Changes in Recurrent Pediatric Solid Tumors.

Translational Oncology
Lee, Boram B; Lee, Ji Won JW; Shim, Joon Ho JH; Joung, Je-Gun JG; Yun, Jae Won JW; Bae, Joon Seol JS; Shin, Hyun-Tae HT; Sung, Ki Woong KW; Park, Woong-Yang WY
Publication Date: 2018-12

Variant appearance in text: TP53: D259H
PubMed Link: 30216764
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Impact of genomic alterations on lapatinib treatment outcome and cell-free genomic landscape during HER2 therapy in HER2+ gastric cancer patients.

Annals Of Oncology : Official Journal Of The European Society For Medical Oncology
Kim, S T ST; Banks, K C KC; Pectasides, E E; Kim, S Y SY; Kim, K K; Lanman, R B RB; Talasaz, A A; An, J J; Choi, M G MG; Lee, J H JH; Sohn, T S TS; Bae, J M JM; Kim, S S; Park, S H SH; Park, J O JO; Park, Y S YS; Lim, H Y HY; Kim, N K D NKD; Park, W W; Lee, H H; Bass, A J AJ; Kim, K K; Kang, W K WK; Lee, J J
Publication Date: 2018-04-01

Variant appearance in text: TP53: D259H
PubMed Link: 29409051
Variant Present in the following documents:
  • mdy034.pdf
View BVdb publication page



Comprehensive Mutation and Copy Number Profiling in Archived Circulating Breast Cancer Tumor Cells Documents Heterogeneous Resistance Mechanisms.

Cancer Research
Paoletti, Costanza C; Cani, Andi K AK; Larios, Jose M JM; Hovelson, Daniel H DH; Aung, Kimberly K; Darga, Elizabeth P EP; Cannell, Emily M EM; Baratta, Paul J PJ; Liu, Chia-Jen CJ; Chu, David D; Yazdani, Maryam M; Blevins, Allen R AR; Sero, Valeria V; Tokudome, Nahomi N; Thomas, Dafydd G DG; Gersch, Christina C; Schott, Anne F AF; Wu, Yi-Mi YM; Lonigro, Robert R; Robinson, Dan R DR; Chinnaiyan, Arul M AM; Bischoff, Farideh Z FZ; Johnson, Michael D MD; Park, Ben H BH; Hayes, Daniel F DF; Rae, James M JM; Tomlins, Scott A SA
Publication Date: 2018-02-15

Variant appearance in text: TP53: D259H
PubMed Link: 29233927
Variant Present in the following documents:
  • Main text
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: 775G>C; D259H
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Low-burden TP53 mutations in chronic phase of myeloproliferative neoplasms: association with age, hydroxyurea administration, disease type and JAK2 mutational status.

Leukemia
Kubesova, B B; Pavlova, S S; Malcikova, J J; Kabathova, J J; Radova, L L; Tom, N N; Tichy, B B; Plevova, K K; Kantorova, B B; Fiedorova, K K; Slavikova, M M; Bystry, V V; Kissova, J J; Gisslinger, B B; Gisslinger, H H; Penka, M M; Mayer, J J; Kralovics, R R; Pospisilova, S S; Doubek, M M
Publication Date: 2018-02

Variant appearance in text: TP53: D259H
PubMed Link: 28744014
Variant Present in the following documents:
  • Main text
  • leu2017230x2.xlsx, sheet 1
  • leu2017230a.pdf
View BVdb publication page



Strong FGFR3 staining is a marker for FGFR3 fusions in diffuse gliomas.

Neuro-Oncology
Granberg, Kirsi J KJ; Annala, Matti M; Lehtinen, Birgitta B; Kesseli, Juha J; Haapasalo, Joonas J; Ruusuvuori, Pekka P; Yli-Harja, Olli O; Visakorpi, Tapio T; Haapasalo, Hannu H; Nykter, Matti M; Zhang, Wei W
Publication Date: 2017-09-01

Variant appearance in text: TP53: D259H
PubMed Link: 28379477
Variant Present in the following documents:
  • nox028_suppl_Supplementary_Table_5.xlsx, sheet 1
View BVdb publication page



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: D259H
PubMed Link: 27527004
Variant Present in the following documents:
  • srep31321-s5.xls, sheet 1
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: D259H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Nature Communications
Witkiewicz, Agnieszka K AK; McMillan, Elizabeth A EA; Balaji, Uthra U; Baek, GuemHee G; Lin, Wan-Chi WC; Mansour, John J; Mollaee, Mehri M; Wagner, Kay-Uwe KU; Koduru, Prasad P; Yopp, Adam A; Choti, Michael A MA; Yeo, Charles J CJ; McCue, Peter P; White, Michael A MA; Knudsen, Erik S ES
Publication Date: 2015-04-09

Variant appearance in text: p53: D259H
PubMed Link: 25855536
Variant Present in the following documents:
  • ncomms7744-s2.xlsx, 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: D259H
PubMed Link: 25348012
Variant Present in the following documents:
  • 13059_2014_484_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



IDH1/IDH2 but not TP53 mutations predict prognosis in Bulgarian glioblastoma patients.

Biomed Research International
Stancheva, Gergana G; Goranova, Teodora T; Laleva, Maria M; Kamenova, Margarita M; Mitkova, Atanaska A; Velinov, Nikolay N; Poptodorov, George G; Mitev, Vanio V; Kaneva, Radka R; Gabrovsky, Nikolay N
Publication Date: 2014

Variant appearance in text: TP53: 775G>C
PubMed Link: 24868540
Variant Present in the following documents:
  • Main text
  • BMRI2014-654727.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: D259H
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



The NAB-Brk signal bifurcates at JNK to independently induce apoptosis and compensatory proliferation.

The Journal Of Biological Chemistry
Suissa, Yaron Y; Ziv, Oren O; Dinur, Tama T; Arama, Eli E; Gerlitz, Offer O
Publication Date: 2011-04-29

Variant appearance in text: p53: D259H
PubMed Link: 21385866
Variant Present in the following documents:
  • Main text
View BVdb publication page