TP53 c.587G>A ;(p.R196Q)

Variant ID: 17-7578262-C-T

NM_000546.5(TP53):c.587G>A;(p.R196Q)

This variant was identified in 73 publications

View GRCh38 version.




Publications:


P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Acta Neuropathologica Communications
Vij, Meenakshi M; Cho, Benjamin B BB; Yokoda, Raquel T RT; Rashidipour, Omid O; Umphlett, Melissa M; Richardson, Timothy E TE; Tsankova, Nadejda M NM
Publication Date: 2023-05-03

Variant appearance in text: TP53: R196Q
PubMed Link: 37138345
Variant Present in the following documents:
  • 40478_2023_1573_MOESM1_ESM.xlsx, sheet 1
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: 587G>A; R196Q
PubMed Link: 36807650
Variant Present in the following documents:
  • 41375_2023_1845_MOESM1_ESM.pdf
View BVdb publication page



Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: TP53: R196Q
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM7_ESM.xlsx, sheet 1
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Dynamics of age- versus therapy-related clonal hematopoiesis in long-term survivors of pediatric cancer.

Cancer Discovery
Hagiwara, Kohei K; Natarajan, Sivaraman S; Wang, Zhaoming Z; Zubair, Haseeb H; Mulder, Heather L HL; Dong, Li L; Plyler, Emily M EM; Thimmaiah, Padma P; Ma, Xiaotu X; Ness, Kirsten K KK; Li, Zhenghong Z; Mulrooney, Daniel A DA; Wilson, Carmen L CL; Yasui, Yutaka Y; Hudson, Melissa M MM; Easton, John J; Robison, Leslie L LL; Zhang, Jinghui J
Publication Date: 2023-02-08

Variant appearance in text: TP53: R196Q
PubMed Link: 36751942
Variant Present in the following documents:
  • cd-22-0956_tables_s2_s7_s8_s9_suppst1.xlsx, sheet 4
View BVdb publication page



Identification of TP53 mutations in circulating tumour DNA in high grade serous ovarian carcinoma using next generation sequencing technologies.

Scientific Reports
Calapre, Leslie L; Giardina, Tindaro T; Beasley, Aaron B AB; Reid, Anna L AL; Stewart, Colin C; Amanuel, Benhur B; Meniawy, Tarek M TM; Gray, Elin S ES
Publication Date: 2023-01-06

Variant appearance in text: TP53: R196Q
PubMed Link: 36609632
Variant Present in the following documents:
  • Main text
  • 41598_2023_Article_27445.pdf
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: R196Q
PubMed Link: 36561320
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
  • Table2.xlsx, sheet 7
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: 587G>A; Arg196Gln; rs483352697
PubMed Link: 36353970
Variant Present in the following documents:
  • CGE-103-247-s001.xlsx, sheet 1
View BVdb publication page



Analysis of matched primary and recurrent BRCA1/2 mutation-associated tumors identifies recurrence-specific drivers.

Nature Communications
Shah, Jennifer B JB; Pueschl, Dana D; Wubbenhorst, Bradley B; Fan, Mengyao M; Pluta, John J; D'Andrea, Kurt K; Hubert, Anna P AP; Shilan, Jake S JS; Zhou, Wenting W; Kraya, Adam A AA; Llop Guevara, Alba A; Ruan, Catherine C; Serra, Violeta V; Balmaña, Judith J; Feldman, Michael M; Morin, Pat J PJ; Nayak, Anupma A; Maxwell, Kara N KN; Domchek, Susan M SM; Nathanson, Katherine L KL
Publication Date: 2022-11-07

Variant appearance in text: TP53: R196Q
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM5_ESM.xlsx, sheet 2
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 2
  • 41467_2022_34523_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.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: 587G>A; R196Q
PubMed Link: 36311816
Variant Present in the following documents:
  • crc-22-0314-s02.xlsx, sheet 6
View BVdb publication page



Predictive mutation signature of immunotherapy benefits in NSCLC based on machine learning algorithms.

Frontiers In Immunology
Liu, Zhichao Z; Lin, Guo G; Yan, Zeping Z; Li, Linduo L; Wu, Xingchen X; Shi, Jingrong J; He, Jianxing J; Zhao, Lei L; Liang, Hengrui H; Wang, Wei W
Publication Date: 2022

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
View BVdb publication page



Utilization of cytologic cell blocks for targeted sequencing of solid tumors.

Cancer Medicine
Vormittag-Nocito, Erica E; Kumar, Ravindra R; Narayan, Kunwar Digvijay KD; Chen, Zhengjia Z; David, Odile O; Behm, Frederick F; Mohapatra, Gayatry G
Publication Date: 2022-09-20

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 36125633
Variant Present in the following documents:
  • CAM4-12-4042-s001.xlsx, sheet 1
View BVdb publication page



EPHA5 mutation was associated with adverse outcome of atezolizumab treatment in late-stage non-small cell lung cancers.

Bmc Pulmonary Medicine
Li, Zhenxiang Z; Zhou, Qing Q; Wang, Qi Q; Wang, Haiyong H; Yue, Weiming W
Publication Date: 2022-09-19

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
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: 587G>A
PubMed Link: 36117989
Variant Present in the following documents:
  • mmc4.xlsx, sheet 1
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: TP53: R196Q
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
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: R196Q
PubMed Link: 35831314
Variant Present in the following documents:
  • 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3
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: R196Q
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: R196Q
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, sheet 1
View BVdb publication page



Ultrasensitive profiling of UV-induced mutations identifies thousands of subclinical facial tumors in tuberous sclerosis complex.

The Journal Of Clinical Investigation
Klonowska, Katarzyna K; Grevelink, Joannes M JM; Giannikou, Krinio K; Ogorek, Barbara A BA; Herbert, Zachary T ZT; Thorner, Aaron R AR; Darling, Thomas N TN; Moss, Joel J; Kwiatkowski, David J DJ
Publication Date: 2022-05-16

Variant appearance in text: TP53: Arg196Gln
PubMed Link: 35358092
Variant Present in the following documents:
  • jci-132-155858-s182.pdf
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: R196Q
PubMed Link: 35259128
Variant Present in the following documents:
  • jciinsight-7-156534-s067.xlsx, sheet 1
View BVdb publication page



Systematic review and meta-analysis of genomic alterations in acral melanoma.

Pigment Cell & Melanoma Research
Broit, Natasa N; Johansson, Peter A PA; Rodgers, Chloe B CB; Walpole, Sebastian T ST; Hayward, Nicholas K NK; Pritchard, Antonia L AL
Publication Date: 2022-05

Variant appearance in text: TP53: R196Q; rs483352697
PubMed Link: 35229492
Variant Present in the following documents:
  • PCMR-35-369-s003.xlsx, sheet 8
View BVdb publication page



CD19-directed chimeric antigen receptor T cell therapy in Waldenström macroglobulinemia: a preclinical model and initial clinical experience.

Journal For Immunotherapy Of Cancer
Palomba, M Lia ML; Qualls, David D; Monette, Sebastien S; Sethi, Shenon S; Dogan, Ahmet A; Roshal, Mikhail M; Senechal, Brigitte B; Wang, Xiuyan X; Rivière, Isabelle I; Sadelain, Michel M; Brentjens, Renier J RJ; Park, Jae H JH; Smith, Eric L EL
Publication Date: 2022-02

Variant appearance in text: TP53: R196Q
PubMed Link: 35173030
Variant Present in the following documents:
  • jitc-2021-004128.pdf
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: rs483352697
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Plos Genetics
Audain, Enrique E; Wilsdon, Anna A; Breckpot, Jeroen J; Izarzugaza, Jose M G JMG; Fitzgerald, Tomas W TW; Kahlert, Anne-Karin AK; Sifrim, Alejandro A; Wünnemann, Florian F; Perez-Riverol, Yasset Y; Abdul-Khaliq, Hashim H; Bak, Mads M; Bassett, Anne S AS; Benson, D Woodrow DW; Berger, Felix F; Daehnert, Ingo I; Devriendt, Koenraad K; Dittrich, Sven S; Daubeney, Piers Ef PE; Garg, Vidu V; Hackmann, Karl K; Hoff, Kirstin K; Hofmann, Philipp P; Dombrowsky, Gregor G; Pickardt, Thomas T; Bauer, Ulrike U; Keavney, Bernard D BD; Klaassen, Sabine S; Kramer, Hans-Heiner HH; Marshall, Christian R CR; Milewicz, Dianna M DM; Lemaire, Scott S; Coselli, Joseph S JS; Mitchell, Michael E ME; Tomita-Mitchell, Aoy A; Prakash, Siddharth K SK; Stamm, Karl K; Stewart, Alexandre F R AFR; Silversides, Candice K CK; Siebert, Reiner R; Stiller, Brigitte B; Rosenfeld, Jill A JA; Vater, Inga I; Postma, Alex V AV; Caliebe, Almuth A; Brook, J David JD; Andelfinger, Gregor G; Hurles, Matthew E ME; Thienpont, Bernard B; Larsen, Lars Allan LA; Hitz, Marc-Phillip MP
Publication Date: 2021-07

Variant appearance in text: TP53: 587G>A
PubMed Link: 34324492
Variant Present in the following documents:
  • pgen.1009679.s019.xlsx, sheet 3
View BVdb publication page



The landscape of driver mutations in cutaneous squamous cell carcinoma.

Npj Genomic Medicine
Chang, Darwin D; Shain, A Hunter AH
Publication Date: 2021-07-16

Variant appearance in text: TP53: R196Q
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
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: 587G>A; R196Q
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 4
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 2
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Clinicopathologic and Genomic Landscape of Breast Carcinoma Brain Metastases.

The Oncologist
Huang, Richard S P RSP; Haberberger, James J; McGregor, Kimberly K; Mata, Douglas A DA; Decker, Brennan B; Hiemenz, Matthew C MC; Lechpammer, Mirna M; Danziger, Natalie N; Schiavone, Kelsie K; Creeden, James J; Graf, Ryon P RP; Strowd, Roy R; Lesser, Glenn J GJ; Razis, Evangelia D ED; Bartsch, Rupert R; Giannoudis, Athina A; Bhogal, Talvinder T; Lin, Nancy U NU; Pusztai, Lajos L; Ross, Jeffrey S JS; Palmieri, Carlo C; Ramkissoon, Shakti H SH
Publication Date: 2021-10

Variant appearance in text: TP53: R196Q
PubMed Link: 34105210
Variant Present in the following documents:
  • Main text
View BVdb publication page



Circulating Tumor DNA Analyses Predict Disease Recurrence in Non-Muscle-Invasive Bladder Cancer.

Frontiers In Oncology
Zhang, Jinghua J; Dai, Daofeng D; Tian, Junqiang J; Li, Lifeng L; Bai, Jing J; Xu, Yaping Y; Wang, Zhiping Z; Tang, Aifa A
Publication Date: 2021

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 33996580
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: TP53: R196Q
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
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: 587G>A; R196Q
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: 587G>A; R196Q
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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: rs483352697
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



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: rs483352697
PubMed Link: 33257846
Variant Present in the following documents:
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 4
  • 41418_2020_672_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



The rs78378222 prevalence and the copy loss of the protective allele A in the tumor tissue of diffuse large B-cell lymphoma.

Peerj
Voropaeva, Elena N EN; Orlov, Yuriy L YL; Pospelova, Tatiana I TI; Gurageva, Anna A AA; Voevoda, Mikhail I MI; Maksimov, Vladimir N VN; Seregina, Olga B OB; Churkina, Maria I MI
Publication Date: 2020

Variant appearance in text: TP53: Arg196Gln
PubMed Link: 33240649
Variant Present in the following documents:
  • Main text
  • peerj-08-10335.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: TP53: R196Q
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
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: R196Q
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
View BVdb publication page



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: R196Q
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_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: R196Q
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
View BVdb publication page



Tissue gene mutation profiles in patients with colorectal cancer and their clinical implications.

Biomedical Reports
Ye, Jun J; Lin, Mei M; Zhang, Chuanmeng C; Zhu, Xiaowei X; Li, Sumeng S; Liu, Hui H; Yin, Jianfeng J; Yu, Hong H; Zhu, Kuichun K
Publication Date: 2020-07

Variant appearance in text: TP53: R196Q
PubMed Link: 32440349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Functional Classification of TP53 Mutations in Acute Myeloid Leukemia.

Cancers
Dutta, Sayantanee S; Pregartner, Gudrun G; Rücker, Frank G FG; Heitzer, Ellen E; Zebisch, Armin A; Bullinger, Lars L; Berghold, Andrea A; Döhner, Konstanze K; Sill, Heinz H
Publication Date: 2020-03-10

Variant appearance in text: TP53: 587G>A
PubMed Link: 32164171
Variant Present in the following documents:
  • Main text
  • cancers-12-00637.pdf
View BVdb publication page



A model combining clinical and genomic factors to predict response to PD-1/PD-L1 blockade in advanced urothelial carcinoma.

British Journal Of Cancer
Nassar, Amin H AH; Mouw, Kent W KW; Jegede, Opeyemi O; Shinagare, Atul B AB; Kim, Jaegil J; Liu, Chia-Jen CJ; Pomerantz, Mark M; Harshman, Lauren C LC; Van Allen, Eliezer M EM; Wei, Xiao X XX; McGregor, Bradley B; Choudhury, Atish D AD; Preston, Mark A MA; Dong, Fei F; Signoretti, Sabina S; Lindeman, Neal I NI; Bellmunt, Joaquim J; Choueiri, Toni K TK; Sonpavde, Guru G; Kwiatkowski, David J DJ
Publication Date: 2020-02

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 31857723
Variant Present in the following documents:
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 14
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 5
  • 41416_2019_686_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Prediction of clinical benefit from androgen deprivation therapy in salivary duct carcinoma patients.

International Journal Of Cancer
van Boxtel, Wim W; Verhaegh, Gerald W GW; van Engen-van Grunsven, Ilse A IA; van Strijp, Dianne D; Kroeze, Leonie I LI; Ligtenberg, Marjolein J MJ; van Zon, Hans B HB; Hendriksen, Yara Y; Keizer, Diederick D; van de Stolpe, Anja A; Schalken, Jack A JA; van Herpen, Carla M CM
Publication Date: 2020-06-01

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 31745978
Variant Present in the following documents:
  • IJC-146-3196-s001.pdf
View BVdb publication page



Rare Pediatric Invasive Gliofibroma Has BRAFV600E Mutation and Transiently Responds to Targeted Therapy Before Progressive Clonal Evolution.

Jco Precision Oncology
Kaneva, Kristiyana K; Yeo, Kee Kiat KK; Hawes, Debra D; Ji, Jianling J; Biegel, Jaclyn A JA; Nelson, Marvin D MD; Bluml, Stefan S; Krieger, Mark D MD; Erdreich-Epstein, Anat A
Publication Date: 2019

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 31179415
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Comparison of DNA Mutation and Copy Number Profiles of Primary Breast Cancers and Paired Brain Metastases for Identifying Clinically Relevant Genetic Alterations in Brain Metastases.

Cancers
Tyran, Marguerite M; Carbuccia, Nadine N; Garnier, Séverine S; Guille, Arnaud A; Adelaïde, José J; Finetti, Pascal P; Toulzian, Julien J; Viens, Patrice P; Tallet, Agnès A; Goncalves, Anthony A; Metellus, Philippe P; Birnbaum, Daniel D; Chaffanet, Max M; Bertucci, François F
Publication Date: 2019-05-13

Variant appearance in text: TP53: R196Q
PubMed Link: 31086113
Variant Present in the following documents:
  • Main text
  • cancers-11-00665.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: 587G>A; Arg196Gln
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
  • supp_mcs.a003921_Supplemental_Table_2.xlsx, sheet 1
View BVdb publication page



Clinical aspects of TP53 gene inactivation in diffuse large B-cell lymphoma.

Bmc Medical Genomics
Voropaeva, Elena N EN; Pospelova, Tatyana I TI; Voevoda, Mikhail I MI; Maksimov, Vladimir N VN; Orlov, Yuriy L YL; Seregina, Olga B OB
Publication Date: 2019-03-13

Variant appearance in text: TP53: R196Q
PubMed Link: 30871527
Variant Present in the following documents:
  • Main text
  • 12920_2019_Article_484.pdf
View BVdb publication page



DNA methylation changes and somatic mutations as tumorigenic events in Lynch syndrome-associated adenomas retaining mismatch repair protein expression.

Ebiomedicine
Mäki-Nevala, Satu S; Valo, Satu S; Ristimäki, Ari A; Sarhadi, Virinder V; Knuutila, Sakari S; Nyström, Minna M; Renkonen-Sinisalo, Laura L; Lepistö, Anna A; Mecklin, Jukka-Pekka JP; Peltomäki, Päivi P
Publication Date: 2019-01

Variant appearance in text: TP53: Arg196Gln
PubMed Link: 30578081
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

Human Mutation
de Andrade, Kelvin C KC; Frone, Megan N MN; Wegman-Ostrosky, Talia T; Khincha, Payal P PP; Kim, Jung J; Amadou, Amina A; Santiago, Karina M KM; Fortes, Fernanda P FP; Lemonnier, Nathanaël N; Mirabello, Lisa L; Stewart, Douglas R DR; Hainaut, Pierre P; Kowalski, Luiz P LP; Savage, Sharon A SA; Achatz, Maria I MI
Publication Date: 2019-01

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 30352134
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical implications of subclonal TP53 mutations in acute myeloid leukemia.

Haematologica
Prochazka, Katharina T KT; Pregartner, Gudrun G; Rücker, Frank G FG; Heitzer, Ellen E; Pabst, Gabriel G; Wölfler, Albert A; Zebisch, Armin A; Berghold, Andrea A; Döhner, Konstanze K; Sill, Heinz H
Publication Date: 2019-03

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 30309854
Variant Present in the following documents:
  • 2018.205013.PROCHAZKA_SUPPL.pdf
View BVdb publication page



Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Nature Communications
Momozawa, Yukihide Y; Iwasaki, Yusuke Y; Parsons, Michael T MT; Kamatani, Yoichiro Y; Takahashi, Atsushi A; Tamura, Chieko C; Katagiri, Toyomasa T; Yoshida, Teruhiko T; Nakamura, Seigo S; Sugano, Kokichi K; Miki, Yoshio Y; Hirata, Makoto M; Matsuda, Koichi K; Spurdle, Amanda B AB; Kubo, Michiaki M
Publication Date: 2018-10-04

Variant appearance in text: TP53: 587G>A; Arg196Gln; rs483352697
PubMed Link: 30287823
Variant Present in the following documents:
  • 41467_2018_6581_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Effective osimertinib treatment in a patient with discordant T790 M mutation detection between liquid biopsy and tissue biopsy.

Bmc Cancer
Mambetsariev, Isa I; Vora, Lalit L; Yu, Kim Wai KW; Salgia, Ravi R
Publication Date: 2018-03-21

Variant appearance in text: TP53: R196Q
PubMed Link: 29562902
Variant Present in the following documents:
  • Main text
View BVdb publication page



The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Oncotarget
Muscat, Andrea M AM; Wong, Nicholas C NC; Drummond, Katharine J KJ; Algar, Elizabeth M EM; Khasraw, Mustafa M; Verhaak, Roel R; Field, Kathryn K; Rosenthal, Mark A MA; Ashley, David M DM
Publication Date: 2018-01-30

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 29487696
Variant Present in the following documents:
  • oncotarget-09-7844-s003.xlsx, sheet 1
View BVdb publication page



Analysis of Tissue and Circulating Tumor DNA by Next-Generation Sequencing of Hepatocellular Carcinoma: Implications for Targeted Therapeutics.

Molecular Cancer Therapeutics
Ikeda, Sadakatsu S; Lim, Jordan S JS; Kurzrock, Razelle R
Publication Date: 2018-05

Variant appearance in text: TP53: R196Q
PubMed Link: 29483209
Variant Present in the following documents:
  • Main text
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: R196Q
PubMed Link: 29409051
Variant Present in the following documents:
  • Main text
  • mdy034.pdf
View BVdb publication page



Cancer gene profiling in non-small cell lung cancers reveals activating mutations in JAK2 and JAK3 with therapeutic implications.

Genome Medicine
Li, Shuyu D SD; Ma, Meng M; Li, Hui H; Waluszko, Aneta A; Sidorenko, Tatyana T; Schadt, Eric E EE; Zhang, David Y DY; Chen, Rong R; Ye, Fei F
Publication Date: 2017-10-30

Variant appearance in text: TP53: 587G>A; R196Q
PubMed Link: 29082853
Variant Present in the following documents:
  • 13073_2017_478_MOESM1_ESM.xlsx, sheet 2
View BVdb publication page



Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.

Molecular Genetics & Genomic Medicine
DeRycke, Melissa S MS; Gunawardena, Shanaka S; Balcom, Jessica R JR; Pickart, Angela M AM; Waltman, Lindsey A LA; French, Amy J AJ; McDonnell, Shannon S; Riska, Shaun M SM; Fogarty, Zachary C ZC; Larson, Melissa C MC; Middha, Sumit S; Eckloff, Bruce W BW; Asmann, Yan W YW; Ferber, Matthew J MJ; Haile, Robert W RW; Gallinger, Steven S; Clendenning, Mark M; Rosty, Christophe C; Win, Aung K AK; Buchanan, Daniel D DD; Hopper, John L JL; Newcomb, Polly A PA; Le Marchand, Loic L; Goode, Ellen L EL; Lindor, Noralane M NM; Thibodeau, Stephen N SN
Publication Date: 2017-09

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 28944238
Variant Present in the following documents:
  • MGG3-5-553-s002.xlsx, sheet 2
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: 587G>A; R196Q
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: TP53: 587G>A; Arg196Gln
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



PIK3CA Mutations Contribute to Acquired Cetuximab Resistance in Patients with Metastatic Colorectal Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Xu, Jian-Ming JM; Wang, Yan Y; Wang, You-Liang YL; Wang, Yan Y; Liu, Tao T; Ni, Ming M; Li, Man-Sheng MS; Lin, Li L; Ge, Fei-Jiao FJ; Gong, Chun C; Gu, Jun-Yan JY; Jia, Ru R; Wang, He-Fei HF; Chen, Yu-Ling YL; Liu, Rong-Rui RR; Zhao, Chuan-Hua CH; Tan, Zhao-Li ZL; Jin, Yang Y; Zhu, Yun-Ping YP; Ogino, Shuji S; Qian, Zhi-Rong ZR
Publication Date: 2017-08-15

Variant appearance in text: TP53: R196Q
PubMed Link: 28424201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Mutational landscape reflects the biological continuum of plasma cell dyscrasias.

Blood Cancer Journal
Rossi, A A; Voigtlaender, M M; Janjetovic, S S; Thiele, B B; Alawi, M M; März, M M; Brandt, A A; Hansen, T T; Radloff, J J; Schön, G G; Hegenbart, U U; Schönland, S S; Langer, C C; Bokemeyer, C C; Binder, M M
Publication Date: 2017-02-24

Variant appearance in text: TP53: R196Q
PubMed Link: 28234344
Variant Present in the following documents:
  • Main text
  • bcj201719a.pdf
View BVdb publication page