TP53 c.538G>T ;(p.E180*)

Variant ID: 17-7578392-C-A

NM_000546.5(TP53):c.538G>T;(p.E180*)

This variant was identified in 68 publications

View GRCh38 version.




Publications:


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: E180*; rs879253911
PubMed Link: 37031196
Variant Present in the following documents:
  • 41467_2023_37647_MOESM4_ESM.xlsx, sheet 6
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: 538G>T; Glu180Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: 538G>T; E180*
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



The High Expression of p53 Is Predictive of Poor Survival Rather TP53 Mutation in Esophageal Squamous Cell Carcinoma.

Journal Of Oncology
Jin, Yan Y; Zhao, Xueke X; Song, Xin X; Wang, Ran R; Fan, Zongmin Z; Wang, Panpan P; Yang, Miaomiao M; Zhou, Fuyou F; Bao, Qide Q; Wang, Lidong L
Publication Date: 2023

Variant appearance in text: p53: E180X
PubMed Link: 36660245
Variant Present in the following documents:
  • JO2023-3801526.pdf
View BVdb publication page



ESR1 gene amplification and MAP3K mutations are selected during adjuvant endocrine therapies in relapsing Hormone Receptor-positive, HER2-negative breast cancer (HR+ HER2- BC).

Plos Genetics
Ferrando, Lorenzo L; Vingiani, Andrea A; Garuti, Anna A; Vernieri, Claudio C; Belfiore, Antonino A; Agnelli, Luca L; Dagrada, Gianpaolo G; Ivanoiu, Diana D; Bonizzi, Giuseppina G; Munzone, Elisabetta E; Lippolis, Luana L; Dameri, Martina M; Ravera, Francesco F; Colleoni, Marco M; Viale, Giuseppe G; Magnani, Luca L; Ballestrero, Alberto A; Zoppoli, Gabriele G; Pruneri, Giancarlo G
Publication Date: 2023-01-03

Variant appearance in text: rs879253911
PubMed Link: 36595552
Variant Present in the following documents:
  • pgen.1010563.s004.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: rs879253911
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



Spatial genomics maps the structure, nature and evolution of cancer clones.

Nature
Lomakin, Artem A; Svedlund, Jessica J; Strell, Carina C; Gataric, Milana M; Shmatko, Artem A; Rukhovich, Gleb G; Park, Jun Sung JS; Ju, Young Seok YS; Dentro, Stefan S; Kleshchevnikov, Vitalii V; Vaskivskyi, Vasyl V; Li, Tong T; Bayraktar, Omer Ali OA; Pinder, Sarah S; Richardson, Andrea L AL; Santagata, Sandro S; Campbell, Peter J PJ; Russnes, Hege H; Gerstung, Moritz M; Nilsson, Mats M; Yates, Lucy R LR
Publication Date: 2022-11

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 36352222
Variant Present in the following documents:
  • 41586_2022_5425_MOESM6_ESM.xlsx, sheet 8
  • 41586_2022_5425_MOESM6_ESM.xlsx, sheet 5
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: 538G>T; E180*
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Genomic characteristics of two breast malignant phyllodes tumors during pregnancy and lactation identified through whole-exome sequencing.

Orphanet Journal Of Rare Diseases
Lei, Ting T; Shen, Mengjia M; Deng, Xu X; Shi, Yongqiang Y; Peng, Yan Y; Wang, Hui H; Chen, Tongbing T
Publication Date: 2022-10-21

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 36271373
Variant Present in the following documents:
  • Main text
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: 538G>T; E180*
PubMed Link: 36238300
Variant Present in the following documents:
  • Table_1.xlsx, sheet 4
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: 538G>T; E180*
PubMed Link: 36123678
Variant Present in the following documents:
  • 12890_2022_2161_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: TP53: E180X
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_3.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: E180*
PubMed Link: 35941190
Variant Present in the following documents:
  • 41598_2022_Article_17848.pdf
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: E180*
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
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: E180*
PubMed Link: 35705558
Variant Present in the following documents:
  • 41467_2022_30496_MOESM2_ESM.xls, 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: E180*
PubMed Link: 35562349
Variant Present in the following documents:
  • 41467_2022_30342_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.

Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04

Variant appearance in text: N/A
PubMed Link: 35508466
Variant Present in the following documents:
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: rs879253911
PubMed Link: 35505283
Variant Present in the following documents:
  • 12885_2022_9619_MOESM1_ESM.xlsx, sheet 9
View BVdb publication page



Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.

Cancer Medicine
Liu, Binliang B; Yi, Zongbi Z; Guan, Yanfang Y; Ouyang, Quchang Q; Li, Chunxiao C; Guan, Xiuwen X; Lv, Dan D; Li, Lixi L; Zhai, Jingtong J; Qian, Haili H; Xu, Binghe B; Ma, Fei F; Zeng, Yixin Y
Publication Date: 2022-07

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 35393784
Variant Present in the following documents:
  • CAM4-11-2767-s001.xlsx, sheet 1
View BVdb publication page



Plasma Genotyping at the Time of Diagnostic Tissue Biopsy Decreases Time-to-Treatment in Patients With Advanced NSCLC-Results From a Prospective Pilot Study.

Jto Clinical And Research Reports
Thompson, Jeffrey C JC; Aggarwal, Charu C; Wong, Janeline J; Nimgaonkar, Vivek V; Hwang, Wei-Ting WT; Andronov, Michelle M; Dibardino, David M DM; Hutchinson, Christoph T CT; Ma, Kevin C KC; Lanfranco, Anthony A; Moon, Edmund E; Haas, Andrew R AR; Singh, Aditi P AP; Ciunci, Christine A CA; Marmarelis, Melina M; D'Avella, Christopher C; Cohen, Justine V JV; Bauml, Joshua M JM; Cohen, Roger B RB; Langer, Corey J CJ; Vachani, Anil A; Carpenter, Erica L EL
Publication Date: 2022-04

Variant appearance in text: TP53: E180*
PubMed Link: 35392653
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Individualized circulating tumor DNA monitoring in head and neck squamous cell carcinoma.

Cancer Medicine
Kogo, Ryunosuke R; Manako, Tomomi T; Iwaya, Takeshi T; Nishizuka, Satoshi S; Hiraki, Hayato H; Sasaki, Yasushi Y; Idogawa, Masashi M; Tokino, Takashi T; Koide, Ayaka A; Komune, Noritaka N; Yasumatsu, Ryuji R; Nakagawa, Takashi T
Publication Date: 2022-11

Variant appearance in text: TP53: 538G>T
PubMed Link: 35352507
Variant Present in the following documents:
  • CAM4-11-3960-s001.xlsx, sheet 3
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Mefatinib as first-line treatment of patients with advanced EGFR-mutant non-small-cell lung cancer: a phase Ib/II efficacy and biomarker study.

Signal Transduction And Targeted Therapy
Wang, Pingli P; Li, Yuping Y; Lv, Dongqing D; Yang, Lingge L; Ding, Liren L; Zhou, Jianya J; Hong, Wei W; Chen, Youfei Y; Zhang, Dongqing D; He, Susu S; Zhou, Jianying J; Wang, Kai K
Publication Date: 2021-11-01

Variant appearance in text: TP53: E180*
PubMed Link: 34719670
Variant Present in the following documents:
  • 41392_2021_773_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



GATA2 deficiency syndrome: A decade of discovery.

Human Mutation
Homan, Claire C CC; Venugopal, Parvathy P; Arts, Peer P; Shahrin, Nur H NH; Feurstein, Simone S; Rawlings, Lesley L; Lawrence, David M DM; Andrews, James J; King-Smith, Sarah L SL; Harvey, Natasha L NL; Brown, Anna L AL; Scott, Hamish S HS; Hahn, Christopher N CN
Publication Date: 2021-11

Variant appearance in text: TP53: 538G>T; Glu180*
PubMed Link: 34387894
Variant Present in the following documents:
  • HUMU-42-1399-s001.xlsx, sheet 1
View BVdb publication page



The genomic landscape of 85 advanced neuroendocrine neoplasms reveals subtype-heterogeneity and potential therapeutic targets.

Nature Communications
van Riet, Job J; van de Werken, Harmen J G HJG; Cuppen, Edwin E; Eskens, Ferry A L M FALM; Tesselaar, Margot M; van Veenendaal, Linde M LM; Klümpen, Heinz-Josef HJ; Dercksen, Marcus W MW; Valk, Gerlof D GD; Lolkema, Martijn P MP; Sleijfer, Stefan S; Mostert, Bianca B
Publication Date: 2021-07-29

Variant appearance in text: TP53: 538G>T; Glu180Ter
PubMed Link: 34326338
Variant Present in the following documents:
  • 41467_2021_24812_MOESM4_ESM.xlsx, sheet 7
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: 538G>T; E180*
PubMed Link: 34253785
Variant Present in the following documents:
  • 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 5
  • 41598_2021_93715_MOESM3_ESM.xlsx, sheet 6
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 9
View BVdb publication page



Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications
Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A
Publication Date: 2021-04-14

Variant appearance in text: TP53: E180*
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.xlsx, sheet 1
View BVdb publication page



ARID2 deficiency promotes tumor progression and is associated with higher sensitivity to chemotherapy in lung cancer.

Oncogene
Moreno, Thaidy T; Monterde, Beatriz B; González-Silva, Laura L; Betancor-Fernández, Isabel I; Revilla, Carlos C; Agraz-Doblas, Antonio A; Freire, Javier J; Isidro, Pablo P; Quevedo, Laura L; Blanco, Rosa R; Montes-Moreno, Santiago S; Cereceda, Laura L; Astudillo, Aurora A; Casar, Berta B; Crespo, Piero P; Morales Torres, Cristina C; Scaffidi, Paola P; Gómez-Román, Javier J; Salido, Eduardo E; Varela, Ignacio I
Publication Date: 2021-04

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 33742126
Variant Present in the following documents:
  • EMS118565-supplement-Suppl__Table_3.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: 538G>T; E180*
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: 538G>T; E180*
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.

Npj Breast Cancer
Yi, Zongbi Z; Rong, Guohua G; Guan, Yanfang Y; Li, Jin J; Chang, Lianpeng L; Li, Hui H; Liu, Binliang B; Wang, Wenna W; Guan, Xiuwen X; Ouyang, Quchang Q; Li, Lixi L; Zhai, Jingtong J; Li, Chunxiao C; Li, Lifeng L; Xia, Xuefeng X; Yang, Ling L; Qian, Haili H; Yi, Xin X; Xu, Binghe B; Ma, Fei F
Publication Date: 2020

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 33145402
Variant Present in the following documents:
  • 41523_2020_201_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Profiling Identifies Outcome-Relevant Mechanisms of Innate and Acquired Resistance to Third-Generation Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Therapy in Lung Cancer.

Jco Precision Oncology
Michels, Sebastian S; Heydt, Carina C; van Veggel, Bianca B; Deschler-Baier, Barbara B; Pardo, Nuria N; Monkhorst, Kim K; Rüsseler, Vanessa V; Stratmann, Jan J; Griesinger, Frank F; Steinhauser, Susanne S; Kostenko, Anna A; Diebold, Joachim J; Fassunke, Jana J; Fischer, Rieke R; Engel-Riedel, Walburga W; Gautschi, Oliver O; Geissinger, Eva E; Haneder, Stefan S; Ihle, Michaela A MA; Kopp, Hans-Georg HG; de Langen, Adrianus J AJ; Martinez-Marti, Alex A; Nogova, Lucia L; Persigehl, Thorsten T; Plenker, Dennis D; Puesken, Michael M; Rodermann, Ernst E; Rosenwald, Andreas A; Scheel, Andreas H AH; Scheffler, Matthias M; Spengler, Werner W; Seggewiss-Bernhardt, Ruth R; Brägelmann, Johannes J; Sebastian, Martin M; Vrugt, Bart B; Hellmich, Martin M; Sos, Martin L ML; Heukamp, Lukas C LC; Felip, Enriqueta E; Merkelbach-Bruse, Sabine S; Smit, Egbert F EF; Büttner, Reinhard R; Wolf, Jürgen J
Publication Date: 2019

Variant appearance in text: TP53: E180*
PubMed Link: 32914023
Variant Present in the following documents:
  • Main text
  • PO.18.00210.pdf
View BVdb publication page



The TP53 mutation rate differs in breast cancers that arise in women with high or low mammographic density.

Npj Breast Cancer
Cheasley, Dane D; Devereux, Lisa L; Hughes, Siobhan S; Nickson, Carolyn C; Procopio, Pietro P; Lee, Grant G; Li, Na N; Pridmore, Vicki V; Elder, Kenneth K; Bruce Mann, G G; Kader, Tanjina T; Rowley, Simone M SM; Fox, Stephen B SB; Byrne, David D; Saunders, Hugo H; Fujihara, Kenji M KM; Lim, Belle B; Gorringe, Kylie L KL; Campbell, Ian G IG
Publication Date: 2020

Variant appearance in text: p53: 538G>T
PubMed Link: 32802943
Variant Present in the following documents:
  • 41523_2020_176_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Identification of relevant genetic alterations in cancer using topological data analysis.

Nature Communications
Rabadán, Raúl R; Mohamedi, Yamina Y; Rubin, Udi U; Chu, Tim T; Alghalith, Adam N AN; Elliott, Oliver O; Arnés, Luis L; Cal, Santiago S; Obaya, Álvaro J ÁJ; Levine, Arnold J AJ; Cámara, Pablo G PG
Publication Date: 2020-07-30

Variant appearance in text: TP53: E180*
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: E180X
PubMed Link: 32686686
Variant Present in the following documents:
  • 41467_2020_17386_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Genomic assessment distinguishes intrapulmonary metastases from synchronous primary lung cancers.

Journal Of Thoracic Disease
Corsini, Erin M EM; Wang, Jinliang J; Wu, Chia-Chin CC; Fujimoto, Junya J; Negrao, Marcelo V MV; Chen, Runzhe R; Quek, Kelly K; Mitchell, Kyle G KG; Chow, Chi-Wan B CB; Little, Latasha L; Gumbs, Curtis C; Song, Xingzhi X; Behrens, Carmen C; Correa, Arlene M AM; Antonoff, Mara B MB; Swisher, Stephen G SG; Heymach, John V JV; Zhang, Jianhua J; Wistuba, Ignacio I II; Futreal, P Andrew PA; Sepesi, Boris B; Zhang, Jianjun J
Publication Date: 2020-05

Variant appearance in text: TP53: E180X
PubMed Link: 32642098
Variant Present in the following documents:
  • Main text
  • jtd-12-05-1952.pdf
View BVdb publication page



mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Publication Date: 2020-06-23

Variant appearance in text: TP53: E180*
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Comprehensive Genomic Profiling of Rare Tumors: Routes to Targeted Therapies.

Frontiers In Oncology
Wang, Shuhang S; Chen, Rongrong R; Tang, Yu Y; Yu, Yue Y; Fang, Yuan Y; Huang, Huiyao H; Wu, Dawei D; Fang, Hong H; Bai, Ying Y; Sun, Chao C; Yu, Anqi A; Fan, Qi Q; Gu, Dejian D; Yi, Xin X; Li, Ning N
Publication Date: 2020

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 32373528
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
View BVdb publication page



Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.

Communications Biology
Dong, Xiaobao X; Huang, Dandan D; Yi, Xianfu X; Zhang, Shijie S; Wang, Zhao Z; Yan, Bin B; Chung Sham, Pak P; Chen, Kexin K; Jun Li, Mulin M
Publication Date: 2020-01-07

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Genomics of lethal prostate cancer at diagnosis and castration resistance.

The Journal Of Clinical Investigation
Mateo, Joaquin J; Seed, George G; Bertan, Claudia C; Rescigno, Pasquale P; Dolling, David D; Figueiredo, Ines I; Miranda, Susana S; Nava Rodrigues, Daniel D; Gurel, Bora B; Clarke, Matthew M; Atkin, Mark M; Chandler, Rob R; Messina, Carlo C; Sumanasuriya, Semini S; Bianchini, Diletta D; Barrero, Maialen M; Petermolo, Antonella A; Zafeiriou, Zafeiris Z; Fontes, Mariane M; Perez-Lopez, Raquel R; Tunariu, Nina N; Fulton, Ben B; Jones, Robert R; McGovern, Ursula U; Ralph, Christy C; Varughese, Mohini M; Parikh, Omi O; Jain, Suneil S; Elliott, Tony T; Sandhu, Shahneen S; Porta, Nuria N; Hall, Emma E; Yuan, Wei W; Carreira, Suzanne S; de Bono, Johann S JS
Publication Date: 2020-04-01

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 31874108
Variant Present in the following documents:
  • jci-130-132031-s100.xlsx, sheet 1
View BVdb publication page



NOTCH and DNA repair pathways are more frequently targeted by genomic alterations in inflammatory than in non-inflammatory breast cancers.

Molecular Oncology
Bertucci, François F; Rypens, Charlotte C; Finetti, Pascal P; Guille, Arnaud A; Adélaïde, José J; Monneur, Audrey A; Carbuccia, Nadine N; Garnier, Séverine S; Dirix, Piet P; Gonçalves, Anthony A; Vermeulen, Peter P; Debeb, Bisrat G BG; Wang, Xiaoping X; Dirix, Luc L; Ueno, Naoto T NT; Viens, Patrice P; Cristofanilli, Massimo M; Chaffanet, Max M; Birnbaum, Daniel D; Van Laere, Steven S
Publication Date: 2020-03

Variant appearance in text: TP53: E180*
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Identification of predictors of drug sensitivity using patient-derived models of esophageal squamous cell carcinoma.

Nature Communications
Su, Dan D; Zhang, Dadong D; Jin, Jiaoyue J; Ying, Lisha L; Han, Miao M; Chen, Kaiyan K; Li, Bin B; Wu, Junzhou J; Xie, Zhenghua Z; Zhang, Fanrong F; Lin, Yihui Y; Cheng, Guoping G; Li, Jing-Yu JY; Huang, Minran M; Wang, Jinchao J; Wang, Kailai K; Zhang, Jianjun J; Li, Fugen F; Xiong, Lei L; Futreal, Andrew A; Mao, Weimin W
Publication Date: 2019-11-07

Variant appearance in text: TP53: 538G>T
PubMed Link: 31700061
Variant Present in the following documents:
  • 41467_2019_12846_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: TP53: Glu180*
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Profiling of Circulating Free DNA Using Targeted and Genome-wide Sequencing in Patients with SCLC.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer
Mohan, Sumitra S; Foy, Victoria V; Ayub, Mahmood M; Leong, Hui Sun HS; Schofield, Pieta P; Sahoo, Sudhakar S; Descamps, Tine T; Kilerci, Bedirhan B; Smith, Nigel K NK; Carter, Mathew M; Priest, Lynsey L; Zhou, Cong C; Carr, T Hedley TH; Miller, Crispin C; Faivre-Finn, Corinne C; Blackhall, Fiona F; Rothwell, Dominic G DG; Dive, Caroline C; Brady, Gerard G
Publication Date: 2020-02

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 31629061
Variant Present in the following documents:
  • mmc2.xlsx, sheet 3
View BVdb publication page



Targeted Gene Next-Generation Sequencing Panel in Patients with Advanced Lung Adenocarcinoma: Paving the Way for Clinical Implementation.

Cancers
Fernandes, Maria Gabriela O MGO; Jacob, Maria M; Martins, Natália N; Moura, Conceição Souto CS; Guimarães, Susana S; Reis, Joana Pereira JP; Justino, Ana A; Pina, Maria João MJ; Cirnes, Luís L; Sousa, Catarina C; Pinto, Josué J; Marques, José Agostinho JA; Machado, José Carlos JC; Hespanhol, Venceslau V; Costa, José Luis JL
Publication Date: 2019-08-22

Variant appearance in text: TP53: 538G>T
PubMed Link: 31443496
Variant Present in the following documents:
  • Main text
  • cancers-11-01229-s001.pdf
  • cancers-11-01229.pdf
View BVdb publication page



Targeted deep sequencing from multiple sources demonstrates increased NOTCH1 alterations in lung cancer patient plasma.

Cancer Medicine
Liao, Yuwei Y; Ma, Zhaokui Z; Zhang, Yu Y; Li, Dan D; Lv, Dekang D; Chen, Zhisheng Z; Li, Peiying P; Ai-Dherasi, Aisha A; Zheng, Feng F; Tian, Jichao J; Zou, Kun K; Wang, Yue Y; Wang, Dongxia D; Cordova, Miguel M; Zhou, Huan H; Li, Xiuhua X; Liu, Dan D; Yu, Ruofei R; Zhang, Qingzheng Q; Zhang, Xiaolong X; Zhang, Jian J; Zhang, Xuehong X; Zhang, Xia X; Li, Yulong Y; Shao, Yanyan Y; Song, Luyao L; Liu, Ruimei R; Wang, Yichen Y; Sufiyan, Sufiyan S; Liu, Quentin Q; Owen, Gareth I GI; Li, Zhiguang Z; Chen, Jun J
Publication Date: 2019-09

Variant appearance in text: TP53: E180X
PubMed Link: 31369215
Variant Present in the following documents:
  • CAM4-8-5673-s008.xlsx, sheet 5
View BVdb publication page



Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.

Modern Pathology : An Official Journal Of The United States And Canadian Academy Of Pathology, Inc
Eich, Marie-Lisa ML; Rodriguez Pena, Maria Del Carmen MDC; Springer, Simeon U SU; Taheri, Diana D; Tregnago, Aline C AC; Salles, Daniela C DC; Bezerra, Stephania Martins SM; Cunha, Isabela W IW; Fujita, Kazutoshi K; Ertoy, Dilek D; Bivalacqua, Trinity J TJ; Tomasetti, Cristian C; Papadopoulos, Nickolas N; Kinzler, Ken W KW; Vogelstein, Bert B; Netto, George J GJ
Publication Date: 2019-10

Variant appearance in text: TP53: E180*
PubMed Link: 31028363
Variant Present in the following documents:
  • NIHMS1525315-supplement-2.xlsx, sheet 1
View BVdb publication page



Molecular profiling of cancer patients enables personalized combination therapy: the I-PREDICT study.

Nature Medicine
Sicklick, Jason K JK; Kato, Shumei S; Okamura, Ryosuke R; Schwaederle, Maria M; Hahn, Michael E ME; Williams, Casey B CB; De, Pradip P; Krie, Amy A; Piccioni, David E DE; Miller, Vincent A VA; Ross, Jeffrey S JS; Benson, Adam A; Webster, Jennifer J; Stephens, Philip J PJ; Lee, J Jack JJ; Fanta, Paul T PT; Lippman, Scott M SM; Leyland-Jones, Brian B; Kurzrock, Razelle R
Publication Date: 2019-05

Variant appearance in text: TP53: E180*
PubMed Link: 31011206
Variant Present in the following documents:
  • NIHMS1522524-supplement-Sup_Tables_1_-_2.xlsx, sheet 2
View BVdb publication page



Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.

Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 30545397
Variant Present in the following documents:
  • 13045_2018_679_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



p53 regulates CD46 expression and measles virus infection in myeloma cells.

Blood Advances
Lok, Anne A; Descamps, Geraldine G; Tessoulin, Benoit B; Chiron, David D; Eveillard, Marion M; Godon, Catherine C; Le Bris, Yannick Y; Vabret, Astrid A; Bellanger, Celine C; Maillet, Laurent L; Barillé-Nion, Sophie S; Gregoire, Marc M; Fonteneau, Jean-François JF; Le Gouill, Steven S; Moreau, Philippe P; Tangy, Frederic F; Amiot, Martine M; Moreau-Aubry, Agnes A; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-11

Variant appearance in text: TP53: E180*
PubMed Link: 30530776
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genomic and Transcriptomic Characterization Links Cell Lines with Aggressive Head and Neck Cancers.

Cell Reports
Cheng, Hui H; Yang, Xinping X; Si, Han H; Saleh, Anthony D AD; Xiao, Wenming W; Coupar, Jamie J; Gollin, Susanne M SM; Ferris, Robert L RL; Issaeva, Natalia N; Yarbrough, Wendell G WG; Prince, Mark E ME; Carey, Thomas E TE; Van Waes, Carter C; Chen, Zhong Z
Publication Date: 2018-10-30

Variant appearance in text: TP53: E180X
PubMed Link: 30380422
Variant Present in the following documents:
  • NIHMS1511993-supplement-6.xlsx, sheet 1
View BVdb publication page



Circulating tumor DNA analysis depicts subclonal architecture and genomic evolution of small cell lung cancer.

Nature Communications
Nong, Jingying J; Gong, Yuhua Y; Guan, Yanfang Y; Yi, Xin X; Yi, Yuting Y; Chang, Lianpeng L; Yang, Ling L; Lv, Jialin J; Guo, Zhirong Z; Jia, Hongyan H; Chu, Yuxing Y; Liu, Tao T; Chen, Ming M; Byers, Lauren L; Roarty, Emily E; Lam, Vincent K VK; Papadimitrakopoulou, Vassiliki A VA; Wistuba, Ignacio I; Heymach, John V JV; Glisson, Bonnie B; Liao, Zhongxing Z; Lee, J Jack JJ; Futreal, P Andrew PA; Zhang, Shucai S; Xia, Xuefeng X; Zhang, Jianjun J; Wang, Jinghui J
Publication Date: 2018-08-06

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 30082701
Variant Present in the following documents:
  • 41467_2018_5327_MOESM9_ESM.xlsx, sheet 1
  • 41467_2018_5327_MOESM6_ESM.xlsx, sheet 1
  • 41467_2018_5327_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Personalized Medicine in the Oncology Clinic: Implementation and Outcomes of the Johns Hopkins Molecular Tumor Board.

Jco Precision Oncology
Dalton, W Brian WB; Forde, Patrick M PM; Kang, Hyunseok H; Connolly, Roisin M RM; Stearns, Vered V; Gocke, Christopher D CD; Eshleman, James R JR; Axilbund, Jennifer J; Petry, Dana D; Geoghegan, Cindy C; Wolff, Antonio C AC; Loeb, David M DM; Pratilas, Christine A CA; Meyer, Christian F CF; Christenson, Eric S ES; Slater, Shannon A SA; Ensminger, Jennifer J; Parsons, Heather A HA; Park, Ben H BH; Lauring, Josh J
Publication Date: 2017

Variant appearance in text: TP53: E180*
PubMed Link: 30003184
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analytical Validation of a Hybrid Capture-Based Next-Generation Sequencing Clinical Assay for Genomic Profiling of Cell-Free Circulating Tumor DNA.

The Journal Of Molecular Diagnostics : Jmd
Clark, Travis A TA; Chung, Jon H JH; Kennedy, Mark M; Hughes, Jason D JD; Chennagiri, Niru N; Lieber, Daniel S DS; Fendler, Bernard B; Young, Lauren L; Zhao, Mandy M; Coyne, Michael M; Breese, Virginia V; Young, Geneva G; Donahue, Amy A; Pavlick, Dean D; Tsiros, Alyssa A; Brennan, Timothy T; Zhong, Shan S; Mughal, Tariq T; Bailey, Mark M; He, Jie J; Roels, Steven S; Frampton, Garrett M GM; Spoerke, Jill M JM; Gendreau, Steven S; Lackner, Mark M; Schleifman, Erica E; Peters, Eric E; Ross, Jeffrey S JS; Ali, Siraj M SM; Miller, Vincent A VA; Gregg, Jeffrey P JP; Stephens, Philip J PJ; Welsh, Allison A; Otto, Geoff A GA; Lipson, Doron D
Publication Date: 2018-09

Variant appearance in text: TP53: E180*
PubMed Link: 29936259
Variant Present in the following documents:
  • mmc10.xlsx, sheet 1
View BVdb publication page



Somatic POLE exonuclease domain mutations are early events in sporadic endometrial and colorectal carcinogenesis, determining driver mutational landscape, clonal neoantigen burden and immune response.

The Journal Of Pathology
Temko, Daniel D; Van Gool, Inge C IC; Rayner, Emily E; Glaire, Mark M; Makino, Seiko S; Brown, Matthew M; Chegwidden, Laura L; Palles, Claire C; Depreeuw, Jeroen J; Beggs, Andrew A; Stathopoulou, Chaido C; Mason, John J; Baker, Ann-Marie AM; Williams, Marc M; Cerundolo, Vincenzo V; Rei, Margarida M; Taylor, Jenny C JC; Schuh, Anna A; Ahmed, Ahmed A; Amant, Frédéric F; Lambrechts, Diether D; Smit, Vincent Thbm VT; Bosse, Tjalling T; Graham, Trevor A TA; Church, David N DN; Tomlinson, Ian I
Publication Date: 2018-07

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 29604063
Variant Present in the following documents:
  • PATH-245-283-s022.xlsx, sheet 1
View BVdb publication page



Targeted next generation sequencing identified clinically actionable mutations in patients with esophageal sarcomatoid carcinoma.

Bmc Cancer
Lu, Hongyang H; Yang, Shifeng S; Zhu, Huineng H; Tong, Xiaoling X; Xie, Fajun F; Qin, Jing J; Han, Na N; Wu, Xue X; Fan, Yun Y; Shao, Yang W YW; Mao, Weimin W
Publication Date: 2018-03-05

Variant appearance in text: TP53: E180X
PubMed Link: 29506494
Variant Present in the following documents:
  • 12885_2018_4159_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Genomic Evolution of Breast Cancer Metastasis and Relapse.

Cancer Cell
Yates, Lucy R LR; Knappskog, Stian S; Wedge, David D; Farmery, James H R JHR; Gonzalez, Santiago S; Martincorena, Inigo I; Alexandrov, Ludmil B LB; Van Loo, Peter P; Haugland, Hans Kristian HK; Lilleng, Peer Kaare PK; Gundem, Gunes G; Gerstung, Moritz M; Pappaemmanuil, Elli E; Gazinska, Patrycja P; Bhosle, Shriram G SG; Jones, David D; Raine, Keiran K; Mudie, Laura L; Latimer, Calli C; Sawyer, Elinor E; Desmedt, Christine C; Sotiriou, Christos C; Stratton, Michael R MR; Sieuwerts, Anieta M AM; Lynch, Andy G AG; Martens, John W JW; Richardson, Andrea L AL; Tutt, Andrew A; Lønning, Per Eystein PE; Campbell, Peter J PJ
Publication Date: 2017-08-14

Variant appearance in text: TP53: E180*
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 3
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: 538G>T; E180*
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden.

Genome Medicine
Chalmers, Zachary R ZR; Connelly, Caitlin F CF; Fabrizio, David D; Gay, Laurie L; Ali, Siraj M SM; Ennis, Riley R; Schrock, Alexa A; Campbell, Brittany B; Shlien, Adam A; Chmielecki, Juliann J; Huang, Franklin F; He, Yuting Y; Sun, James J; Tabori, Uri U; Kennedy, Mark M; Lieber, Daniel S DS; Roels, Steven S; White, Jared J; Otto, Geoffrey A GA; Ross, Jeffrey S JS; Garraway, Levi L; Miller, Vincent A VA; Stephens, Phillip J PJ; Frampton, Garrett M GM
Publication Date: 2017-04-19

Variant appearance in text: TP53: E180*
PubMed Link: 28420421
Variant Present in the following documents:
  • 13073_2017_424_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Optimized p53 immunohistochemistry is an accurate predictor of TP53 mutation in ovarian carcinoma.

The Journal Of Pathology. Clinical Research
Köbel, Martin M; Piskorz, Anna M AM; Lee, Sandra S; Lui, Shuhong S; LePage, Cecile C; Marass, Francesco F; Rosenfeld, Nitzan N; Mes Masson, Anne-Marie AM; Brenton, James D JD
Publication Date: 2016-10

Variant appearance in text: TP53: E180X
PubMed Link: 27840695
Variant Present in the following documents:
  • CJP2-2-247-s010.xlsx, sheet 1
View BVdb publication page



Concordance between genomic alterations assessed by next-generation sequencing in tumor tissue or circulating cell-free DNA.

Oncotarget
Chae, Young Kwang YK; Davis, Andrew A AA; Carneiro, Benedito A BA; Chandra, Sunandana S; Mohindra, Nisha N; Kalyan, Aparna A; Kaplan, Jason J; Matsangou, Maria M; Pai, Sachin S; Costa, Ricardo R; Jovanovic, Borko B; Cristofanilli, Massimo M; Platanias, Leonidas C LC; Giles, Francis J FJ
Publication Date: 2016-10-04

Variant appearance in text: TP53: E180*
PubMed Link: 27588476
Variant Present in the following documents:
  • oncotarget-07-65364-s001.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Targeted Next Generation Sequencing as a Reliable Diagnostic Assay for the Detection of Somatic Mutations in Tumours Using Minimal DNA Amounts from Formalin Fixed Paraffin Embedded Material.

Plos One
de Leng, Wendy W J WW; Gadellaa-van Hooijdonk, Christa G CG; Barendregt-Smouter, Françoise A S FA; Koudijs, Marco J MJ; Nijman, Ies I; Hinrichs, John W J JW; Cuppen, Edwin E; van Lieshout, Stef S; Loberg, Robert D RD; de Jonge, Maja M; Voest, Emile E EE; de Weger, Roel A RA; Steeghs, Neeltje N; Langenberg, Marlies H G MH; Sleijfer, Stefan S; Willems, Stefan M SM; Lolkema, Martijn P MP
Publication Date: 2016

Variant appearance in text: TP53: E180*
PubMed Link: 26919633
Variant Present in the following documents:
  • pone.0149405.s010.xlsx, sheet 1
View BVdb publication page



Prevalence and phenotypic correlations of EIF1AX mutations in thyroid nodules.

Endocrine-Related Cancer
Karunamurthy, Arivarasan A; Panebianco, Federica F; J Hsiao, Susan S; Vorhauer, Jennie J; Nikiforova, Marina N MN; Chiosea, Simion S; Nikiforov, Yuri E YE
Publication Date: 2016-04

Variant appearance in text: TP53: E180*
PubMed Link: 26911375
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multiplex PCR and Next Generation Sequencing for the Non-Invasive Detection of Bladder Cancer.

Plos One
Ward, Douglas G DG; Baxter, Laura L; Gordon, Naheema S NS; Ott, Sascha S; Savage, Richard S RS; Beggs, Andrew D AD; James, Jonathan D JD; Lickiss, Jennifer J; Green, Shaun S; Wallis, Yvonne Y; Wei, Wenbin W; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, K K KK; Mathews, Glenn M GM; Patel, Prashant P; Griffiths, Michael M; Bryan, Richard T RT
Publication Date: 2016

Variant appearance in text: TP53: 538G>T; E180*
PubMed Link: 26901314
Variant Present in the following documents:
  • pone.0149756.s006.xlsx, sheet 1
View BVdb publication page



Loss of heterozygosity: what is it good for?

Bmc Medical Genomics
Ryland, Georgina L GL; Doyle, Maria A MA; Goode, David D; Boyle, Samantha E SE; Choong, David Y H DY; Rowley, Simone M SM; Li, Jason J; , ; Bowtell, David D L DD; Tothill, Richard W RW; Campbell, Ian G IG; Gorringe, Kylie L KL
Publication Date: 2015-08-01

Variant appearance in text: TP53: 538G>T; Glu180X
PubMed Link: 26231170
Variant Present in the following documents:
  • 12920_2015_123_MOESM2_ESM.xlsx, sheet 1
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Exome sequencing of serous endometrial tumors identifies recurrent somatic mutations in chromatin-remodeling and ubiquitin ligase complex genes.

Nature Genetics
Le Gallo, Matthieu M; O'Hara, Andrea J AJ; Rudd, Meghan L ML; Urick, Mary Ellen ME; Hansen, Nancy F NF; O'Neil, Nigel J NJ; Price, Jessica C JC; Zhang, Suiyuan S; England, Bryant M BM; Godwin, Andrew K AK; Sgroi, Dennis C DC; , ; Hieter, Philip P; Mullikin, James C JC; Merino, Maria J MJ; Bell, Daphne W DW
Publication Date: 2012-12

Variant appearance in text: TP53: 538G>T; Glu180*
PubMed Link: 23104009
Variant Present in the following documents:
  • NIHMS412622-supplement-1.pdf
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Extremely high Tp53 mutation load in esophageal squamous cell carcinoma in Golestan Province, Iran.

Plos One
Abedi-Ardekani, Behnoush B; Kamangar, Farin F; Sotoudeh, Masoud M; Villar, Stephanie S; Islami, Farhad F; Aghcheli, Karim K; Nasrollahzadeh, Dariush D; Taghavi, Noushin N; Dawsey, Sanford M SM; Abnet, Christian C CC; Hewitt, Stephen M SM; Fahimi, Saman S; Saidi, Farrokh F; Brennan, Paul P; Boffetta, Paolo P; Malekzadeh, Reza R; Hainaut, Pierre P
Publication Date: 2011

Variant appearance in text: TP53: 538G>T; E180X
PubMed Link: 22216294
Variant Present in the following documents:
View BVdb publication page