TP53 c.523C>T ;(p.R175C)

Variant ID: 17-7578407-G-A

NM_000546.5(TP53):c.523C>T;(p.R175C)

This variant was identified in 135 publications

View GRCh38 version.




Publications:


Circulating tumor DNA reveals mechanisms of lorlatinib resistance in patients with relapsed/refractory ALK-driven neuroblastoma.

Nature Communications
Berko, Esther R ER; Witek, Gabriela M GM; Matkar, Smita S; Petrova, Zaritza O ZO; Wu, Megan A MA; Smith, Courtney M CM; Daniels, Alex A; Kalna, Joshua J; Kennedy, Annie A; Gostuski, Ivan I; Casey, Colleen C; Krytska, Kateryna K; Gerelus, Mark M; Pavlick, Dean D; Ghazarian, Susan S; Park, Julie R JR; Marachelian, Araz A; Maris, John M JM; Goldsmith, Kelly C KC; Radhakrishnan, Ravi R; Lemmon, Mark A MA; Mossé, Yaël P YP
Publication Date: 2023-05-05

Variant appearance in text: TP53: R175C
PubMed Link: 37147298
Variant Present in the following documents:
  • 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Surveillance of cfDNA Hot Spot Mutations in NSCLC Patients during Disease Progression.

International Journal Of Molecular Sciences
Sestokaite, Agne A; Gedvilaite, Vaida V; Cicenas, Saulius S; Sabaliauskaite, Rasa R; Jarmalaite, Sonata S
Publication Date: 2023-04-09

Variant appearance in text: TP53: R175C
PubMed Link: 37108122
Variant Present in the following documents:
  • Main text
  • ijms-24-06958.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: TP53: R175C
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 3
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
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: 523C>T; Arg175Cys; rs138729528
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



Recapitulating thyroid cancer histotypes through engineering embryonic stem cells.

Nature Communications
Veschi, Veronica V; Turdo, Alice A; Modica, Chiara C; Verona, Francesco F; Di Franco, Simone S; Gaggianesi, Miriam M; Tirrò, Elena E; Di Bella, Sebastiano S; Iacono, Melania Lo ML; Pantina, Vincenzo Davide VD; Porcelli, Gaetana G; Mangiapane, Laura Rosa LR; Bianca, Paola P; Rizzo, Aroldo A; Sciacca, Elisabetta E; Pillitteri, Irene I; Vella, Veronica V; Belfiore, Antonino A; Bongiorno, Maria Rita MR; Pistone, Giuseppe G; Memeo, Lorenzo L; Colarossi, Lorenzo L; Giuffrida, Dario D; Colarossi, Cristina C; Vigneri, Paolo P; Todaro, Matilde M; Stassi, Giorgio G
Publication Date: 2023-03-11

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Evolution of synchronous female bilateral breast cancers and response to treatment.

Nature Medicine
Hamy, Anne-Sophie AS; Abécassis, Judith J; Driouch, Keltouma K; Darrigues, Lauren L; Vandenbogaert, Mathias M; Laurent, Cecile C; Zaccarini, Francois F; Sadacca, Benjamin B; Delomenie, Myriam M; Laas, Enora E; Mariani, Odette O; Lam, Thanh T; Grandal, Beatriz B; Laé, Marick M; Bieche, Ivan I; Vacher, Sophie S; Pierga, Jean-Yves JY; Brain, Etienne E; Vallot, Celine C; Hotton, Judicael J; Richer, Wilfrid W; Rocha, Dario D; Tariq, Zakia Z; Becette, Veronique V; Meseure, Didier D; Lesage, Laetitia L; Vincent-Salomon, Anne A; Filmann, Natalie N; Furlanetto, Jenny J; Loibl, Sibylle S; Dumas, Elise E; Waterfall, Joshua J JJ; Reyal, Fabien F
Publication Date: 2023-03-06

Variant appearance in text: TP53: R175C
PubMed Link: 36879128
Variant Present in the following documents:
  • 41591_2023_Article_2216.pdf
View BVdb publication page



Pan-cancer clinical impact of latent drivers from double mutations.

Communications Biology
Yavuz, Bengi Ruken BR; Tsai, Chung-Jung CJ; Nussinov, Ruth R; Tuncbag, Nurcan N
Publication Date: 2023-02-20

Variant appearance in text: TP53: R175C
PubMed Link: 36808143
Variant Present in the following documents:
  • 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3
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: 523C>T; R175C
PubMed Link: 36807650
Variant Present in the following documents:
  • 41375_2023_1845_MOESM1_ESM.pdf
View BVdb publication page



Significance of logistic regression scoring model based on natural killer cell-mediated cytotoxic pathway in the diagnosis of colon cancer.

Frontiers In Immunology
Ye, Zhen Z; Zhang, Huanhuan H; Liang, Jianwei J; Yi, Shuying S; Zhan, Xianquan X
Publication Date: 2023

Variant appearance in text: TP53: R175C; rs138729528
PubMed Link: 36742322
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_8.xlsx, sheet 1
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: TP53: R175C
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 7
View BVdb publication page



A sex-informed approach to improve the personalised decision making process in myelodysplastic syndromes: a multicentre, observational cohort study.

The Lancet. Haematology
,
Publication Date: 2022-11-24

Variant appearance in text: TP53: 523C>T
PubMed Link: 36436542
Variant Present in the following documents:
  • mmc2.xlsx, sheet 1
View BVdb publication page



Mutant p53 in cancer: from molecular mechanism to therapeutic modulation.

Cell Death & Disease
Chen, Xiaohua X; Zhang, Taotao T; Su, Wei W; Dou, Zhihui Z; Zhao, Dapeng D; Jin, Xiaodong X; Lei, Huiwen H; Wang, Jing J; Xie, Xiaodong X; Cheng, Bo B; Li, Qiang Q; Zhang, Hong H; Di, Cuixia C
Publication Date: 2022-11-18

Variant appearance in text: p53: R175C
PubMed Link: 36400749
Variant Present in the following documents:
  • Main text
  • 41419_2022_Article_5408.pdf
View BVdb publication page



Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.

Nature Communications
Boström, Martin M; Larsson, Erik E
Publication Date: 2022-11-17

Variant appearance in text: TP53: R175C
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent missense variants in clonal hematopoiesis-related genes present in the general population.

Clinical Genetics
Ariste, Olivier O; de la Grange, Pierre P; Veitia, Reiner A RA
Publication Date: 2022-11-10

Variant appearance in text: TP53: 523C>T; Arg175Cys; rs138729528
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Uterine lavage identifies cancer mutations and increased TP53 somatic mutation burden in individuals with ovarian cancer.

Cancer Research Communications
Ghezelayagh, Talayeh S TS; Kohrn, Brendan F BF; Fredrickson, Jeanne J; Manhardt, Enna E; Radke, Marc R MR; Katz, Ronit R; Gray, Heidi J HJ; Urban, Renata R RR; Pennington, Kathryn P KP; Liao, John B JB; Doll, Kemi M KM; Simons, Elise J EJ; Burzawa, Jennifer K JK; Goff, Barbara A BA; Speiser, Paul P; Swisher, Elizabeth M EM; Norquist, Barbara M BM; Risques, Rosa Ana RA
Publication Date: 2022-10

Variant appearance in text: TP53: 523C>T; R175C
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



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: 523C>T
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
View BVdb publication page



Fragment size and dynamics of EGFR-mutated tumor-derived DNA provide prognostic information regarding EGFR-TKI efficacy in patients with EGFR-mutated NSCLC.

Scientific Reports
Kunimasa, Kei K; Nishino, Kazumi K; Sato, Yoshiharu Y; Mori, Masahide M; Ihara, Shoichi S; Suzuki, Hidekazu H; Nagatomo, Izumi I; Kumagai, Toru T; Morishima, Toshitaka T; Imamura, Fumio F
Publication Date: 2022-08-08

Variant appearance in text: TP53: R175C
PubMed Link: 35941190
Variant Present in the following documents:
  • 41598_2022_Article_17848.pdf
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: TP53: R175C
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 3
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Risk of ipsilateral breast tumor recurrence and contralateral breast cancer in patients with and without TP53 variant in a large series of breast cancer patients.

Breast (Edinburgh, Scotland)
Guo, Yonghai Y; Wan, Qiting Q; Ouyang, Tao T; Li, Jinfeng J; Wang, Tianfeng T; Fan, Zhaoqing Z; Xie, Yuntao Y
Publication Date: 2022-10

Variant appearance in text: TP53: 523C>T; R175C
PubMed Link: 35820297
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



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: 523C>T; R175C
PubMed Link: 35814426
Variant Present in the following documents:
  • DataSheet_1.xlsx, sheet 2
View BVdb publication page



Reversal of viral and epigenetic HLA class I repression in Merkel cell carcinoma.

The Journal Of Clinical Investigation
Lee, Patrick C PC; Klaeger, Susan S; Le, Phuong M PM; Korthauer, Keegan K; Cheng, Jingwei J; Ananthapadmanabhan, Varsha V; Frost, Thomas C TC; Stevens, Jonathan D JD; Wong, Alan Yl AY; Iorgulescu, J Bryan JB; Tarren, Anna Y AY; Chea, Vipheaviny A VA; Carulli, Isabel P IP; Lemvigh, Camilla K CK; Pedersen, Christina B CB; Gartin, Ashley K AK; Sarkizova, Siranush S; Wright, Kyle T KT; Li, Letitia W LW; Nomburg, Jason J; Li, Shuqiang S; Huang, Teddy T; Liu, Xiaoxi X; Pomerance, Lucas L; Doherty, Laura M LM; Apffel, Annie M AM; Wallace, Luke J LJ; Rachimi, Suzanna S; Felt, Kristen D KD; Wolff, Jacquelyn O JO; Witten, Elizabeth E; Zhang, Wandi W; Neuberg, Donna D; Lane, William J WJ; Zhang, Guanglan G; Olsen, Lars R LR; Thakuria, Manisha M; Rodig, Scott J SJ; Clauser, Karl R KR; Starrett, Gabriel J GJ; Doench, John G JG; Buhrlage, Sara J SJ; Carr, Steven A SA; DeCaprio, James A JA; Wu, Catherine J CJ; Keskin, Derin B DB
Publication Date: 2022-07-01

Variant appearance in text: TP53: R175C
PubMed Link: 35775490
Variant Present in the following documents:
  • jci-132-151666-s199.xlsx, sheet 1
View BVdb publication page



Genomic landscape of pathogenic mutation of APC, KRAS, TP53, PIK3CA, and MLH1 in Indonesian colorectal cancer.

Plos One
Marbun, Vania Myralda Giamour VMG; Erlina, Linda L; Lalisang, Toar Jean Maurice TJM
Publication Date: 2022

Variant appearance in text: TP53: R175C
PubMed Link: 35709138
Variant Present in the following documents:
  • Main text
  • pone.0267090.pdf
View BVdb publication page



Clinical genomic profiling in the management of patients with soft tissue and bone sarcoma.

Nature Communications
Gounder, Mrinal M MM; Agaram, Narasimhan P NP; Trabucco, Sally E SE; Robinson, Victoria V; Ferraro, Richard A RA; Millis, Sherri Z SZ; Krishnan, Anita A; Lee, Jessica J; Attia, Steven S; Abida, Wassim W; Drilon, Alexander A; Chi, Ping P; Angelo, Sandra P D' SP; Dickson, Mark A MA; Keohan, Mary Lou ML; Kelly, Ciara M CM; Agulnik, Mark M; Chawla, Sant P SP; Choy, Edwin E; Chugh, Rashmi R; Meyer, Christian F CF; Myer, Parvathi A PA; Moore, Jessica L JL; Okimoto, Ross A RA; Pollock, Raphael E RE; Ravi, Vinod V; Singh, Arun S AS; Somaiah, Neeta N; Wagner, Andrew J AJ; Healey, John H JH; Frampton, Garrett M GM; Venstrom, Jeffrey M JM; Ross, Jeffrey S JS; Ladanyi, Marc M; Singer, Samuel S; Brennan, Murray F MF; Schwartz, Gary K GK; Lazar, Alexander J AJ; Thomas, David M DM; Maki, Robert G RG; Tap, William D WD; Ali, Siraj M SM; Jin, Dexter X DX
Publication Date: 2022-06-15

Variant appearance in text: TP53: R175C
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Pathophysiologic and clinical implications of molecular profiles resultant from deletion 5q.

Ebiomedicine
Adema, Vera V; Palomo, Laura L; Walter, Wencke W; Mallo, Mar M; Hutter, Stephan S; La Framboise, Thomas T; Arenillas, Leonor L; Meggendorfer, Manja M; Radivoyevitch, Tomas T; Xicoy, Blanca B; Pellagatti, Andrea A; Haferlach, Claudia C; Boultwood, Jacqueline J; Kern, Wolfgang W; Visconte, Valeria V; Sekeres, Mikkael M; Barnard, John J; Haferlach, Torsten T; Solé, Francesc F; Maciejewski, Jaroslaw P JP
Publication Date: 2022-06

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 35617825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
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: R175C
PubMed Link: 35562349
Variant Present in the following documents:
  • 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Establishment of patient-derived organoids and a characterization-based drug discovery platform for treatment of pancreatic cancer.

Bmc Cancer
Watanabe, Sadanori S; Yogo, Akitada A; Otsubo, Tsuguteru T; Umehara, Hiroki H; Oishi, Jun J; Kodo, Toru T; Masui, Toshihiko T; Takaishi, Shigeo S; Seno, Hiroshi H; Uemoto, Shinji S; Hatano, Etsuro E
Publication Date: 2022-05-03

Variant appearance in text: rs138729528
PubMed Link: 35505283
Variant Present in the following documents:
  • 12885_2022_9619_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Characterization of disease-propagating stem cells responsible for myeloproliferative neoplasm-blast phase.

Jci Insight
Wang, Xiaoli X; Rampal, Raajit K RK; Hu, Cing Siang CS; Tripodi, Joseph J; Farnoud, Noushin N; Petersen, Bruce B; Rossi, Michael R MR; Patel, Minal M; McGovern, Erin E; Najfeld, Vesna V; Iancu-Rubin, Camelia C; Lu, Min M; Davis, Andrew A; Kremyanskaya, Marina M; Weinberg, Rona Singer RS; Mascarenhas, John J; Hoffman, Ronald R
Publication Date: 2022-04-22

Variant appearance in text: TP53: R175C
PubMed Link: 35259128
Variant Present in the following documents:
  • jciinsight-7-156534-s067.xlsx, sheet 1
View BVdb publication page



Base editing sensor libraries for high-throughput engineering and functional analysis of cancer-associated single nucleotide variants.

Nature Biotechnology
Sánchez-Rivera, Francisco J FJ; Diaz, Bianca J BJ; Kastenhuber, Edward R ER; Schmidt, Henri H; Katti, Alyna A; Kennedy, Margaret M; Tem, Vincent V; Ho, Yu-Jui YJ; Leibold, Josef J; Paffenholz, Stella V SV; Barriga, Francisco M FM; Chu, Kevan K; Goswami, Sukanya S; Wuest, Alexandra N AN; Simon, Janelle M JM; Tsanov, Kaloyan M KM; Chakravarty, Debyani D; Zhang, Hongxin H; Leslie, Christina S CS; Lowe, Scott W SW; Dow, Lukas E LE
Publication Date: 2022-06

Variant appearance in text: TP53: R175C
PubMed Link: 35165384
Variant Present in the following documents:
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 4
  • NIHMS1760571-supplement-Supplementary_Table_S2.xlsx, sheet 6
View BVdb publication page



TP53_PROF: a machine learning model to predict impact of missense mutations in TP53.

Briefings In Bioinformatics
Ben-Cohen, Gil G; Doffe, Flora F; Devir, Michal M; Leroy, Bernard B; Soussi, Thierry T; Rosenberg, Shai S
Publication Date: 2022-03-10

Variant appearance in text: TP53: 523C>T; R175C; rs138729528
PubMed Link: 35043155
Variant Present in the following documents:
  • Main text
  • supplementary_figure_s4a_and_b_bbab524.pdf
  • supplementary_table_s7_bbab524.xlsx, sheet 2
  • bbab524.pdf
View BVdb publication page



Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine
Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T
Publication Date: 2022-01-05

Variant appearance in text: TP53: R175C
PubMed Link: 34989160
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1861.pdf
View BVdb publication page



Clinicopathological and genetic study of a rare occurrence: Malignant transformation of fibrous dysplasia of the jaws.

Molecular Genetics & Genomic Medicine
Shi, Ruirui R; Li, Xuefen X; Zhang, Jianyun J; Chen, Feng F; Ma, Ming M; Feng, Yanrui Y; Li, Tiejun T
Publication Date: 2022-01

Variant appearance in text: TP53: R175C
PubMed Link: 34989160
Variant Present in the following documents:
  • Main text
  • MGG3-10-e1861.pdf
View BVdb publication page



Harmonizing variant classification for return of results in the All of Us Research Program.

Human Mutation
Harrison, Steven M SM; Austin-Tse, Christina A CA; Kim, Serra S; Lebo, Matthew M; Leon, Annette A; Murdock, David D; Radhakrishnan, Aparna A; Shirts, Brian H BH; Steeves, Marcie M; Venner, Eric E; Gibbs, Richard A RA; Jarvik, Gail P GP; Rehm, Heidi L HL
Publication Date: 2022-08

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 34923710
Variant Present in the following documents:
  • HUMU-43-1114-s002.xlsx, sheet 1
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



MicroSEC filters sequence errors for formalin-fixed and paraffin-embedded samples.

Communications Biology
Ikegami, Masachika M; Kohsaka, Shinji S; Hirose, Takeshi T; Ueno, Toshihide T; Inoue, Satoshi S; Kanomata, Naoki N; Yamauchi, Hideko H; Mori, Taisuke T; Sekine, Shigeki S; Inamoto, Yoshihiro Y; Yatabe, Yasushi Y; Kobayashi, Hiroshi H; Tanaka, Sakae S; Mano, Hiroyuki H
Publication Date: 2021-12-15

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 34912045
Variant Present in the following documents:
  • 42003_2021_2930_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Comparable genetic alteration profiles between gastric cancers with current and past Helicobacter pylori infection.

Scientific Reports
Tsuyuki, Sho S; Takeshima, Hideyuki H; Sekine, Shigeki S; Yamagata, Yukinori Y; Ando, Takayuki T; Yamashita, Satoshi S; Maeda, Shin S; Yoshikawa, Takaki T; Ushijima, Toshikazu T
Publication Date: 2021-12-06

Variant appearance in text: TP53: 523C>T
PubMed Link: 34873204
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_2761.pdf
View BVdb publication page



Integrating real-time in vivo tumour genomes for longitudinal analysis and management of glioma recurrence.

Clinical And Translational Medicine
Sheng, Zhiyuan Z; Yu, Jinliang J; Deng, Kaiyuan K; Bu, Yage Y; Wu, Shuang S; Xu, Sensen S; Gao, Yushuai Y; Zhang, Qianqian Q; Yan, Zhaoyue Z; Bu, Chaojie C; Chen, Zhongcan Z; Gu, Jianjun J; Jia, Yan Y; Gao, Xinya X; Zemmar, Ajmal A; Sumardi, Fitri F; Hernesniemi, Juha J; Kong, Lingfei L; Liu, Gang G; Li, Ming M; Wang, Meiyun M; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021-11

Variant appearance in text: TP53: 523C>T; Arg175Cys
PubMed Link: 34841677
Variant Present in the following documents:
  • CTM2-11-e567-s004.xlsx, sheet 5
  • CTM2-11-e567-s004.xlsx, sheet 6
View BVdb publication page



Multiscale heterogeneity in gastric adenocarcinoma evolution is an obstacle to precision medicine.

Genome Medicine
Röcken, Christoph C; Amallraja, Anu A; Halske, Christine C; Opasic, Luka L; Traulsen, Arne A; Behrens, Hans-Michael HM; Krüger, Sandra S; Liu, Anne A; Haag, Jochen J; Egberts, Jan-Hendrik JH; Rosenstiel, Philip P; Meißner, Tobias T
Publication Date: 2021-11-08

Variant appearance in text: TP53: R175C
PubMed Link: 34749812
Variant Present in the following documents:
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 6
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 16
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 17
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 12
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 14
  • 13073_2021_975_MOESM2_ESM.xlsx, sheet 13
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Tumor DNA From Tumor In Situ Fluid Reveals Mutation Landscape of Minimal Residual Disease After Glioma Surgery and Risk of Early Recurrence.

Frontiers In Oncology
Yu, Jinliang J; Sheng, Zhiyuan Z; Wu, Shuang S; Gao, Yushuai Y; Yan, Zhaoyue Z; Bu, Chaojie C; Gu, Jianjun J; Bu, Yage Y; Deng, Kaiyuan K; Xu, Sensen S; Chen, Zhongcan Z; Zhang, Qianqian Q; Zemmar, Ajmal A; Hernesniemi, Juha J; Wang, Meiyun M; Liu, Gang G; Li, Tianxiao T; Bu, Xingyao X
Publication Date: 2021

Variant appearance in text: TP53: 523C>T
PubMed Link: 34712610
Variant Present in the following documents:
  • DataSheet_1.xls, sheet 4
  • DataSheet_1.xls, sheet 2
  • DataSheet_1.xls, sheet 5
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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: R175C
PubMed Link: 34630336
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Targeting mutant p53 for cancer therapy: direct and indirect strategies.

Journal Of Hematology & Oncology
Hu, Jiahao J; Cao, Jiasheng J; Topatana, Win W; Juengpanich, Sarun S; Li, Shijie S; Zhang, Bin B; Shen, Jiliang J; Cai, Liuxin L; Cai, Xiujun X; Chen, Mingyu M
Publication Date: 2021-09-28

Variant appearance in text: p53: R175C
PubMed Link: 34583722
Variant Present in the following documents:
  • Main text
  • 13045_2021_Article_1169.pdf
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Oncogene Concatenated Enriched Amplicon Nanopore Sequencing for rapid, accurate, and affordable somatic mutation detection.

Genome Biology
Thirunavukarasu, Deepak D; Cheng, Lauren Y LY; Song, Ping P; Chen, Sherry X SX; Borad, Mitesh J MJ; Kwong, Lawrence L; James, Phillip P; Turner, Daniel J DJ; Zhang, David Yu DY
Publication Date: 2021-09-06

Variant appearance in text: TP53: 523C>T; R175C
PubMed Link: 34482832
Variant Present in the following documents:
  • 13059_2021_2449_MOESM2_ESM.xlsx, sheet 3
  • 13059_2021_2449_MOESM2_ESM.xlsx, sheet 2
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Structural and Drug Targeting Insights on Mutant p53.

Cancers
Gomes, Ana Sara AS; Ramos, Helena H; Inga, Alberto A; Sousa, Emília E; Saraiva, Lucília L
Publication Date: 2021-07-03

Variant appearance in text: p53: R175C
PubMed Link: 34283062
Variant Present in the following documents:
  • Main text
  • cancers-13-03344.pdf
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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: 523C>T; R175C
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
View BVdb publication page



Integrated Analysis of Genomic and Immunological Features in Lung Adenocarcinoma With Micropapillary Component.

Frontiers In Oncology
Zhang, Shirong S; Xu, Yang Y; Zhao, Pan P; Bao, Hua H; Wang, Xiyong X; Liu, Rui R; Xu, Rujun R; Xiang, Jingjing J; Jiang, Hong H; Yan, Junrong J; Wu, Xue X; Shao, Yang Y; Liang, Jiafeng J; Wu, Qiong Q; Zhang, Zhihao Z; Lu, Shun S; Ma, Shenglin S
Publication Date: 2021

Variant appearance in text: TP53: 523C>T
PubMed Link: 34221970
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
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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: R175C
PubMed Link: 34097174
Variant Present in the following documents:
  • Main text
View BVdb publication page



Differential chromatin accessibility landscape of gain-of-function mutant p53 tumours.

Bmc Cancer
Dhaka, Bhavya B; Sabarinathan, Radhakrishnan R
Publication Date: 2021-06-05

Variant appearance in text: p53: R175C
PubMed Link: 34090364
Variant Present in the following documents:
  • Main text
  • 12885_2021_Article_8362.pdf
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Rely on Each Other: DNA Binding Cooperativity Shapes p53 Functions in Tumor Suppression and Cancer Therapy.

Cancers
Timofeev, Oleg O; Stiewe, Thorsten T
Publication Date: 2021-05-17

Variant appearance in text: p53: R175C
PubMed Link: 34067731
Variant Present in the following documents:
  • Main text
  • cancers-13-02422.pdf
View BVdb publication page