TP53 c.743G>A ;(p.R248Q)

Variant ID: 17-7577538-C-T

NM_000546.5(TP53):c.743G>A;(p.R248Q)

This variant was identified in 1564 publications

View GRCh38 version.




Publications:


Phase 1b trial of anti-EGFR antibody JMT101 and Osimertinib in EGFR exon 20 insertion-positive non-small-cell lung cancer.

Nature Communications
Zhao, Shen S; Zhuang, Wu W; Han, Baohui B; Song, Zhengbo Z; Guo, Wei W; Luo, Feng F; Wu, Lin L; Hu, Yi Y; Wang, Huijuan H; Dong, Xiaorong X; Jiang, Da D; Wang, Mingxia M; Miao, Liyun L; Wang, Qian Q; Zhang, Junping J; Fu, Zhenming Z; Huang, Yihua Y; Xu, Chunwei C; Hu, Longyu L; Li, Lei L; Hu, Rong R; Yang, Yang Y; Li, Mengke M; Yang, Xiugao X; Zhang, Li L; Huang, Yan Y; Fang, Wenfeng W
Publication Date: 2023-06-12

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 37308490
Variant Present in the following documents:
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 7
  • 41467_2023_39139_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Targeting the p53 signaling pathway in cancers: Molecular mechanisms and clinical studies.

Medcomm
Shen, Jinze J; Wang, Qurui Q; Mao, Yunan Y; Gao, Wei W; Duan, Shiwei S
Publication Date: 2023-06

Variant appearance in text: p53: R248Q
PubMed Link: 37256211
Variant Present in the following documents:
  • Main text
  • MCO2-4-e288.pdf
View BVdb publication page



p53 at the Crossroads between Doxorubicin-Induced Cardiotoxicity and Resistance: A Nutritional Balancing Act.

Nutrients
Guo, Yuanfang Y; Tang, Yufeng Y; Lu, Guangping G; Gu, Junlian J
Publication Date: 2023-05-10

Variant appearance in text: p53: R248Q
PubMed Link: 37242146
Variant Present in the following documents:
  • Main text
  • nutrients-15-02259.pdf
View BVdb publication page



Monitoring Treatment Response, Early Recurrence, and Survival in Uterine Serous Carcinoma and Carcinosarcoma Patients Using Personalized Circulating Tumor DNA Biomarkers.

International Journal Of Molecular Sciences
Bellone, Stefania S; McNamara, Blair B; Mutlu, Levent L; Demirkiran, Cem C; Hartwich, Tobias Max Philipp TMP; Harold, Justin J; Yang-Hartwich, Yang Y; Siegel, Eric R ER; Santin, Alessandro D AD
Publication Date: 2023-05-17

Variant appearance in text: TP53: R248Q
PubMed Link: 37240216
Variant Present in the following documents:
  • ijms-24-08873.pdf
View BVdb publication page



In Vitro Effects of Low-energy Ultrasound Treatment on Healthy CD3/CD8+ Lymphocytes, Red blood cells, Acute Myeloid leukemia cells, and Jurkat cell line.

Journal Of Cancer
De Leonardis, Francesco F; Barile, Simona Nicole SN; Cianci, Claudia C; Pisano, Isabella I; Merla, Giuseppe G; Pappalettera, Giovanni G; Casavola, Caterina C; Pappalettere, Carmine C
Publication Date: 2023

Variant appearance in text: p53: R248Q
PubMed Link: 37215443
Variant Present in the following documents:
  • jcav14p1088.pdf
View BVdb publication page



TP53 Alterations in Myelodysplastic Syndromes and Acute Myeloid Leukemia.

Biomedicines
Rahmé, Ramy R; Braun, Thorsten T; Manfredi, James J JJ; Fenaux, Pierre P
Publication Date: 2023-04-11

Variant appearance in text: p53: R248Q
PubMed Link: 37189770
Variant Present in the following documents:
  • Main text
  • biomedicines-11-01152.pdf
View BVdb publication page



Mutations in Homologous Recombination Genes and Loss of Heterozygosity Status in Advanced-Stage Breast Carcinoma.

Cancers
Bartow, Brooke B BB; Siegal, Gene P GP; Yalniz, Ceren C; Elkhanany, Ahmed M AM; Huo, Lei L; Ding, Qingqing Q; Sahin, Aysegul A AA; Guo, Hua H; Magi-Galluzzi, Cristina C; Harada, Shuko S; Huang, Xiao X
Publication Date: 2023-04-28

Variant appearance in text: TP53: R248Q
PubMed Link: 37173992
Variant Present in the following documents:
  • cancers-15-02524.pdf
View BVdb publication page



Case 10: A 30-Year-Old Woman With Breast Mass and Family History of Cancer.

Journal Of Korean Medical Science
Shin, Kabsoo K; Lee, Jeongmin J; Kang, Jun J; Yoo, Tae-Kyung TK; Lee, Jieun J
Publication Date: 2023-05-08

Variant appearance in text: TP53: 743G>A
PubMed Link: 37158774
Variant Present in the following documents:
  • jkms-38-e138.pdf
View BVdb publication page



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: R248Q
PubMed Link: 37147298
Variant Present in the following documents:
  • 41467_2023_38195_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



TP53 somatic mutations in Asian breast cancer are associated with subtype-specific effects.

Breast Cancer Research : Bcr
Ragu, Mohana Eswari ME; Lim, Joanna Mei Ch'wan JMC; Ng, Pei-Sze PS; Yip, Cheng-Har CH; Rajadurai, Pathmanathan P; Teo, Soo-Hwang SH; Pan, Jia-Wern JW
Publication Date: 2023-04-26

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 37101199
Variant Present in the following documents:
  • 13058_2023_1635_MOESM1_ESM.pdf
View BVdb publication page



Meta-analysis of commonly mutated genes in leptomeningeal carcinomatosis.

Peerj
Congur, Irem I; Koni, Ekin E; Onat, Onur Emre OE; Tokcaer Keskin, Zeynep Z
Publication Date: 2023

Variant appearance in text: TP53: R248Q
PubMed Link: 37096065
Variant Present in the following documents:
  • peerj-11-15250-s005.xlsx, sheet 1
View BVdb publication page



Combined inhibition of BCL-2 and MCL-1 overcomes BAX deficiency-mediated resistance of TP53-mutant acute myeloid leukemia to individual BH3 mimetics.

Blood Cancer Journal
Carter, Bing Z BZ; Mak, Po Yee PY; Tao, Wenjing W; Ayoub, Edward E; Ostermann, Lauren B LB; Huang, Xuelin X; Loghavi, Sanam S; Boettcher, Steffen S; Nishida, Yuki Y; Ruvolo, Vivian V; Hughes, Paul E PE; Morrow, Phuong K PK; Haferlach, Torsten T; Kornblau, Steven S; Muftuoglu, Muharrem M; Andreeff, Michael M
Publication Date: 2023-04-24

Variant appearance in text: TP53: R248Q
PubMed Link: 37088806
Variant Present in the following documents:
  • Main text
  • 41408_2023_Article_830.pdf
View BVdb publication page



Utilizing cell-free DNA to predict risk of developing brain metastases in patients with metastatic breast cancer.

Npj Breast Cancer
Vidula, Neelima N; Niemierko, Andrzej A; Hesler, Katherine K; Ryan, Lianne L; Moy, Beverly B; Isakoff, Steven S; Ellisen, Leif L; Juric, Dejan D; Bardia, Aditya A
Publication Date: 2023-04-19

Variant appearance in text: TP53: R248Q
PubMed Link: 37076495
Variant Present in the following documents:
  • 41523_2023_528_MOESM1_ESM.pdf
View BVdb publication page



Dynamics of Sequence and Structural Cell-Free DNA Landscapes in Small-Cell Lung Cancer.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Sivapalan, Lavanya L; Iams, Wade T WT; Belcaid, Zineb Z; Scott, Susan C SC; Niknafs, Noushin N; Balan, Archana A; White, James R JR; Kopparapu, Prasad P; Cann, Christopher C; Landon, Blair V BV; Pereira, Gavin G; Velculescu, Victor E VE; Hann, Christine L CL; Lovly, Christine M CM; Anagnostou, Valsamo V
Publication Date: 2023-04-18

Variant appearance in text: TP53: R248Q
PubMed Link: 37071497
Variant Present in the following documents:
  • ccr-22-2242_ts1-9_suppts1-9.xlsx, sheet 6
View BVdb publication page



Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients.

Frontiers In Oncology
Liu, Yixiao Y; Jin, Bo B; Shen, Cheng C; Gao, Xianshu X; Qi, Xin X; Ma, Mingwei M; Li, Hongzhen H; Hao, Han H; Tang, Qi Q; Yang, Kaiwei K; Mi, Yue Y; Guan, Jie J; Feng, Xuero X; He, Zhisong Z; Li, Haixia H; Yu, Wei W
Publication Date: 2023

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 37064136
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Homogenous TP53mut-associated tumor biology across mutation and cancer types revealed by transcriptome analysis.

Cell Death Discovery
Romanovsky, Eva E; Kluck, Klaus K; Ourailidis, Iordanis I; Menzel, Michael M; Beck, Susanne S; Ball, Markus M; Kazdal, Daniel D; Christopoulos, Petros P; Schirmacher, Peter P; Stiewe, Thorsten T; Stenzinger, Albrecht A; Budczies, Jan J
Publication Date: 2023-04-14

Variant appearance in text: TP53: R248Q
PubMed Link: 37059713
Variant Present in the following documents:
  • Main text
  • 41420_2023_Article_1413.pdf
View BVdb publication page



clevRvis: visualization techniques for clonal evolution.

Gigascience
Sandmann, Sarah S; Inserte, Clara C; Varghese, Julian J
Publication Date: 2022-12-28

Variant appearance in text: TP53: Arg248Gln
PubMed Link: 37039116
Variant Present in the following documents:
  • Main text
  • giad020_giga-d-22-00248_revision_2.pdf
  • giad020_giga-d-22-00248_original_submission.pdf
  • giad020.pdf
  • giad020_giga-d-22-00248_revision_1.pdf
View BVdb publication page



Predicting response to enzalutamide and abiraterone in metastatic prostate cancer using whole-omics machine learning.

Nature Communications
de Jong, Anouk C AC; Danyi, Alexandra A; van Riet, Job J; de Wit, Ronald R; Sjöström, Martin M; Feng, Felix F; de Ridder, Jeroen J; Lolkema, Martijn P MP
Publication Date: 2023-04-08

Variant appearance in text: TP53: R248Q; rs11540652
PubMed Link: 37031196
Variant Present in the following documents:
  • 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6
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: R248Q
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



Somatic mutation detection and KRAS amplification in testicular germ cell tumors.

Frontiers In Oncology
Cabral, Eduardo R M ERM; Pacanhella, Marilia F MF; Lengert, Andre V H AVH; Dos Reis, Mariana B MB; Leal, Leticia F LF; de Lima, Marcos A MA; da Silva, Aline L V ALV; Pinto, Icaro A IA; Reis, Rui M RM; Pinto, Mariana T MT; Cárcano, Flavio M FM
Publication Date: 2023

Variant appearance in text: TP53: R248Q
PubMed Link: 37007070
Variant Present in the following documents:
  • Main text
  • fonc-13-1133363.pdf
View BVdb publication page



Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.

Bmc Cancer
Xie, Jianjiang J; Yao, Weishen W; Chen, Lingxiu L; Zhu, Wenjun W; Liu, Qiang Q; Geng, Geng G; Fang, Jing J; Zhao, Yang Y; Xiao, Li L; Huang, Zhenhua Z; Zhao, Jing J
Publication Date: 2023-03-31

Variant appearance in text: TP53: Arg248Gln
PubMed Link: 37004022
Variant Present in the following documents:
  • 12885_2023_10674_MOESM1_ESM.xlsx, sheet 1
  • 12885_2023_10674_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Rewired m6A epitranscriptomic networks link mutant p53 to neoplastic transformation.

Nature Communications
Xu, An A; Liu, Mo M; Huang, Mo-Fan MF; Zhang, Yang Y; Hu, Ruifeng R; Gingold, Julian A JA; Liu, Ying Y; Zhu, Dandan D; Chien, Chian-Shiu CS; Wang, Wei-Chen WC; Liao, Zian Z; Yuan, Fei F; Hsu, Chih-Wei CW; Tu, Jian J; Yu, Yao Y; Rosen, Taylor T; Xiong, Feng F; Jia, Peilin P; Yang, Yi-Ping YP; Bazer, Danielle A DA; Chen, Ya-Wen YW; Li, Wenbo W; Huff, Chad D CD; Zhu, Jay-Jiguang JJ; Aguilo, Francesca F; Chiou, Shih-Hwa SH; Boles, Nathan C NC; Lai, Chien-Chen CC; Hung, Mien-Chie MC; Zhao, Zhongming Z; Van Nostrand, Eric L EL; Zhao, Ruiying R; Lee, Dung-Fang DF
Publication Date: 2023-03-27

Variant appearance in text: p53: R248Q
PubMed Link: 36973285
Variant Present in the following documents:
  • Main text
  • 41467_2023_Article_37398.pdf
View BVdb publication page



Characteristics and prognosis of rrDLBCL with TP53 mutations and a high-risk subgroup represented by the co-mutations of DDX3X-TP53.

Cancer Medicine
Gao, Fan F; Hu, Kai K; Zheng, Peihao P; Shi, Hui H; Ke, Xiaoyan X
Publication Date: 2023-03-27

Variant appearance in text: p53: 743G>A; rs11540652
PubMed Link: 36971051
Variant Present in the following documents:
  • CAM4-12-10267-s002.xlsx, sheet 1
  • CAM4-12-10267-s001.xlsx, sheet 1
View BVdb publication page



Integrative proteogenomic characterization of early esophageal cancer.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Zhang, Qiao Q; Liu, Hui H; Xu, Fujiang F; Guo, Chunmei C; Qin, Zhaoyu Z; Wang, Haixing H; Feng, Jinwen J; Liu, Yang Y; Chen, Weijie W; Zhang, Xue X; Bai, Lin L; Tian, Sha S; Tan, Subei S; Xu, Chen C; Song, Qi Q; Liu, Yalan Y; Zhong, Yunshi Y; Chen, Tianyin T; Zhou, Pinghong P; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-25

Variant appearance in text: rs11540652
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



Different impacts of TP53 mutations on cell cycle-related gene expression among cancer types.

Scientific Reports
Sasaki, Keiju K; Takahashi, Shin S; Ouchi, Kota K; Otsuki, Yasufumi Y; Wakayama, Shonosuke S; Ishioka, Chikashi C
Publication Date: 2023-03-24

Variant appearance in text: TP53: R248Q
PubMed Link: 36964217
Variant Present in the following documents:
  • 41598_2023_32092_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



RBFOX2 modulates a metastatic signature of alternative splicing in pancreatic cancer.

Nature
Jbara, Amina A; Lin, Kuan-Ting KT; Stossel, Chani C; Siegfried, Zahava Z; Shqerat, Haya H; Amar-Schwartz, Adi A; Elyada, Ela E; Mogilevsky, Maxim M; Raitses-Gurevich, Maria M; Johnson, Jared L JL; Yaron, Tomer M TM; Ovadia, Ofek O; Jang, Gun Ho GH; Danan-Gotthold, Miri M; Cantley, Lewis C LC; Levanon, Erez Y EY; Gallinger, Steven S; Krainer, Adrian R AR; Golan, Talia T; Karni, Rotem R
Publication Date: 2023-03-22

Variant appearance in text: TP53: R248Q
PubMed Link: 36949200
Variant Present in the following documents:
  • 41586_2023_5820_MOESM4_ESM.xlsx, sheet 1
  • 41586_2023_5820_MOESM4_ESM.xlsx, sheet 3
View BVdb publication page



Novel Scheme for Defining the Clinical Implications of TP53 Mutations in Myeloid Neoplasia.

Research Square
Bahaj, Waled W; Kewan, Tariq T; Gurnari, Carmelo C; Durmaz, Arda A; Ponvilawan, Ben B; Pandit, Ishani I; Kubota, Yasuo Y; Ogbue, Olisaemeka D OD; Zawit, Misam M; Madanat, Yazan Y; Bat, Taha T; Balasubramanian, Suresh K SK; Awada, Hussein H; Ahmed, Ramsha R; Mori, Minako M; Meggendorfer, Manja M; Haferlach, Torsten T; Visconte, Valeria V; Maciejewski, Jaroslaw P JP
Publication Date: 2023-03-09

Variant appearance in text: TP53: R248Q
PubMed Link: 36945617
Variant Present in the following documents:
  • nihpp-rs2656206v1.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: TP53: R248Q
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Multiomic neuropathology improves diagnostic accuracy in pediatric neuro-oncology.

Nature Medicine
Sturm, Dominik D; Capper, David D; Andreiuolo, Felipe F; Gessi, Marco M; Kölsche, Christian C; Reinhardt, Annekathrin A; Sievers, Philipp P; Wefers, Annika K AK; Ebrahimi, Azadeh A; Suwala, Abigail K AK; Gielen, Gerrit H GH; Sill, Martin M; Schrimpf, Daniel D; Stichel, Damian D; Hovestadt, Volker V; Daenekas, Bjarne B; Rode, Agata A; Hamelmann, Stefan S; Previti, Christopher C; Jäger, Natalie N; Buchhalter, Ivo I; Blattner-Johnson, Mirjam M; Jones, Barbara C BC; Warmuth-Metz, Monika M; Bison, Brigitte B; Grund, Kerstin K; Sutter, Christian C; Hirsch, Steffen S; Dikow, Nicola N; Hasselblatt, Martin M; Schüller, Ulrich U; Gerber, Nicolas U NU; White, Christine L CL; Buntine, Molly K MK; Kinross, Kathryn K; Algar, Elizabeth M EM; Hansford, Jordan R JR; Gottardo, Nicholas G NG; Hernáiz Driever, Pablo P; Gnekow, Astrid A; Witt, Olaf O; Müller, Hermann L HL; Calaminus, Gabriele G; Fleischhack, Gudrun G; Kordes, Uwe U; Mynarek, Martin M; Rutkowski, Stefan S; Frühwald, Michael C MC; Kramm, Christof M CM; von Deimling, Andreas A; Pietsch, Torsten T; Sahm, Felix F; Pfister, Stefan M SM; Jones, David T W DTW
Publication Date: 2023-03-16

Variant appearance in text: TP53: R248Q
PubMed Link: 36928815
Variant Present in the following documents:
  • 41591_2023_2255_MOESM3_ESM.xlsx, sheet 5
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: 743G>A; R248Q; rs11540652
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
  • crc-22-0136-s01.xlsx, sheet 3
View BVdb publication page



REGγ promotes mantle cell lymphoma cell apoptosis by downregulating NF-κB signaling.

Translational Cancer Research
Zeng, Xin-Xin XX; Guo, Wan-Wei WW; Shen, Ju J; Jiang, Yu-Ying YY; Liu, Shuang S; Zhang, Xu-Hui XH
Publication Date: 2023-02-28

Variant appearance in text: p53: R248Q
PubMed Link: 36915576
Variant Present in the following documents:
  • tcr-12-02-310.pdf
View BVdb publication page



A generalizable machine learning framework for classifying DNA repair defects using ctDNA exomes.

Npj Precision Oncology
Ritch, Elie J EJ; Herberts, Cameron C; Warner, Evan W EW; Ng, Sarah W S SWS; Kwan, Edmond M EM; Bacon, Jack V W JVW; Bernales, Cecily Q CQ; Schönlau, Elena E; Fonseca, Nicolette M NM; Giri, Veda N VN; Maurice-Dror, Corinne C; Vandekerkhove, Gillian G; Jones, Steven J M SJM; Chi, Kim N KN; Wyatt, Alexander W AW
Publication Date: 2023-03-13

Variant appearance in text: TP53: R248Q
PubMed Link: 36914848
Variant Present in the following documents:
  • 41698_2023_366_MOESM2_ESM.xlsx, sheet 4
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: R248Q
PubMed Link: 36906579
Variant Present in the following documents:
  • 41467_2023_36922_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Discovering Synergistic Compounds with BYL-719 in PI3K Overactivated Basal-like PDXs.

Cancers
Boyd, David C DC; Zboril, Emily K EK; Olex, Amy L AL; Leftwich, Tess J TJ; Hairr, Nicole S NS; Byers, Holly A HA; Valentine, Aaron D AD; Altman, Julia E JE; Alzubi, Mohammad A MA; Grible, Jacqueline M JM; Turner, Scott A SA; Ferreira-Gonzalez, Andrea A; Dozmorov, Mikhail G MG; Harrell, J Chuck JC
Publication Date: 2023-03-03

Variant appearance in text: TP53: 743G>A
PubMed Link: 36900375
Variant Present in the following documents:
  • cancers-15-01582.pdf
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: TP53: R248Q
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Combinatorial BCL-2 family expression in Acute Myeloid Leukemia Stem Cells predicts clinical response to Azacitidine/Venetoclax.

Cancer Discovery
Waclawiczek, Alexander A; Leppa, Aino-Maija AM; Renders, Simon S; Stumpf, Karolin K; Reyneri, Cecilia C; Betz, Barbara B; Janssen, Maike M; Shahswar, Rabia R; Donato, Elisa E; Karpova, Darja D; Thiel, Vera V; Unglaub, Julia M JM; Grabowski, Susanna S; Gryzik, Stefanie S; Vierbaum, Lisa L; Schlenk, Richard F RF; Rollig, Christoph C; Hundemer, Michael M; Pabst, Caroline C; Heuser, Michael M; Raffel, Simon S; Muller-Tidow, Carsten C; Sauer, Tim T; Trumpp, Andreas A
Publication Date: 2023-03-09

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 36892565
Variant Present in the following documents:
  • cd-22-0939_supplementary_tables_1-7_suppst1.xlsx, sheet 2
View BVdb publication page



Integration of deep learning with Ramachandran plot molecular dynamics simulation for genetic variant classification.

Iscience
Tam, Benjamin B; Qin, Zixin Z; Zhao, Bojin B; Wang, San Ming SM; Lei, Chon Lok CL
Publication Date: 2023-03-17

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 36879825
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
  • mmc4.xlsx, sheet 1
  • mmc2.xlsx, sheet 1
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A Phenogenetic Axis that Modulates Clinical Manifestation and Predicts Treatment Outcome in Primary Myeloid Neoplasms.

Cancer Research Communications
Shen, Qiujin Q; Feng, Yahui Y; Gong, Xiaowen X; Jia, Yujiao Y; Gao, Qingyan Q; Jiao, Xiaokang X; Qi, Saibing S; Liu, Xueou X; Wei, Hui H; Huang, Bingqing B; Zhao, Ningning N; Song, Xiaoqiang X; Ma, Yueshen Y; Liang, Shihao S; Zhang, Donglei D; Qin, Li L; Wang, Ying Y; Qu, Shiqiang S; Zou, Yao Y; Chen, Yumei Y; Guo, Ye Y; Yi, Shuhua S; An, Gang G; Jiao, Zengtao Z; Zhang, Song S; Li, Linfeng L; Yan, Jun J; Wang, Huijun H; Song, Zhen Z; Mi, Yingchang Y; Qiu, Lugui L; Zhu, Xiaofan X; Wang, Jianxiang J; Xiao, Zhijian Z; Chen, Junren J
Publication Date: 2022-04

Variant appearance in text: TP53: 743G>A; R248Q
PubMed Link: 36873623
Variant Present in the following documents:
  • crc-21-0194-s05.xlsx, sheet 1
View BVdb publication page



Cooperativity between H3.3K27M and PDGFRA poses multiple therapeutic vulnerabilities in human iPSC-derived diffuse midline glioma avatars.

Biorxiv : The Preprint Server For Biology
Skinner, Kasey R KR; Koga, Tomoyuki T; Miki, Shunichiro S; Gruener, Robert F RF; Grigore, Florina-Nicoleta FN; Torii, Emma H EH; Seelig, Davis M DM; Suzuki, Yuta Y; Kawauchi, Daisuke D; Lin, Benjamin B; Malicki, Denise M DM; Chen, Clark C CC; Benveniste, Etty N EN; Patel, Rakesh P RP; McFarland, Braden C BC; Huang, R Stephanie RS; Jones, Chris C; Mackay, Alan A; Miller, C Ryan CR; Furnari, Frank B FB
Publication Date: 2023-02-24

Variant appearance in text: TP53: R248Q
PubMed Link: 36865329
Variant Present in the following documents:
  • Main text
View BVdb publication page



Codon-specific KRAS mutations predict survival benefit of trifluridine/tipiracil in metastatic colorectal cancer.

Nature Medicine
van de Haar, Joris J; Ma, Xuhui X; Ooft, Salo N SN; van der Helm, Pim W PW; Hoes, Louisa R LR; Mainardi, Sara S; Pinato, David J DJ; Sun, Kristi K; Salvatore, Lisa L; Tortora, Giampaolo G; Zurlo, Ina Valeria IV; Leo, Silvana S; Giampieri, Riccardo R; Berardi, Rossana R; Gelsomino, Fabio F; Merz, Valeria V; Mazzuca, Federica F; Antonuzzo, Lorenzo L; Rosati, Gerardo G; Stavraka, Chara C; Ross, Paul P; Rodriquenz, Maria Grazia MG; Pavarana, Michele M; Messina, Carlo C; Iveson, Timothy T; Zoratto, Federica F; Thomas, Anne A; Fenocchio, Elisabetta E; Ratti, Margherita M; Depetris, Ilaria I; Cergnul, Massimiliano M; Morelli, Cristina C; Libertini, Michela M; Parisi, Alessandro A; De Tursi, Michele M; Zanaletti, Nicoletta N; Garrone, Ornella O; Graham, Janet J; Longarini, Raffaella R; Gobba, Stefania Maria SM; Petrillo, Angelica A; Tamburini, Emiliano E; La Verde, Nicla N; Petrelli, Fausto F; Ricci, Vincenzo V; Wessels, Lodewyk F A LFA; Ghidini, Michele M; Cortellini, Alessio A; Voest, Emile E EE; Valeri, Nicola N
Publication Date: 2023-03-02

Variant appearance in text: TP53: Arg248Gln
PubMed Link: 36864254
Variant Present in the following documents:
  • 41591_2023_2240_MOESM2_ESM.xlsx, sheet 4
View BVdb publication page



Integrative pan-cancer genomic and transcriptomic analyses of refractory metastatic cancer.

Cancer Discovery
Pradat, Yoann Y; Viot, Julien J; Yurchenko, Andrey A AA; Gunbin, Konstantin K; Cerbone, Luigi L; Deloger, Marc M; Grisay, Guillaume G; Verlingue, Loic L; Scott, Veronique V; Padioleau, Ismael I; Panunzi, Leonardo L; Michiels, Stefan S; Hollebecque, Antoine A; Jules-Clement, Gerome G; Mezquita, Laura L; Laine, Antoine A; Loriot, Yohann Y; Besse, Benjamin B; Friboulet, Luc L; Andre, Fabrice F; Cournede, Paul-Henry PH; Gautheret, Daniel D; Nikolaev, Sergey I SI
Publication Date: 2023-03-02

Variant appearance in text: TP53: 743G>A; R248Q; rs11540652
PubMed Link: 36862804
Variant Present in the following documents:
  • cd-22-0966_supplementary_tables_s1-s11_suppst1.xlsx, sheet 6
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Nanoparticle-mediated targeting of the fusion gene RUNX1/ETO in t(8;21)-positive acute myeloid leukaemia.

Leukemia
Issa, Hasan H; Swart, Laura E LE; Rasouli, Milad M; Ashtiani, Minoo M; Nakjang, Sirintra S; Jyotsana, Nidhi N; Schuschel, Konstantin K; Heuser, Michael M; Blair, Helen H; Heidenreich, Olaf O
Publication Date: 2023-02-23

Variant appearance in text: TP53: R248Q
PubMed Link: 36823395
Variant Present in the following documents:
  • Main text
  • 41375_2023_Article_1854.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: TP53: 743G>A; Arg248Gln
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: R248Q
PubMed Link: 36808143
Variant Present in the following documents:
  • 42003_2023_4519_MOESM3_ESM.xlsx, sheet 3
View BVdb publication page