TP53 c.672G>A ;(p.E224=)

Variant ID: 17-7578177-C-T

NM_000546.5(TP53):c.672G>A;(p.E224=)

This variant was identified in 50 publications

View GRCh38 version.




Publications:


Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications
Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C
Publication Date: 2023-03-29

Variant appearance in text: rs267605076
PubMed Link: 36991000
Variant Present in the following documents:
  • 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3
View BVdb publication page



Integrated analysis of genomic and transcriptomic data for the discovery of splice-associated variants in cancer.

Nature Communications
Cotto, Kelsy C KC; Feng, Yang-Yang YY; Ramu, Avinash A; Richters, Megan M; Freshour, Sharon L SL; Skidmore, Zachary L ZL; Xia, Huiming H; McMichael, Joshua F JF; Kunisaki, Jason J; Campbell, Katie M KM; Chen, Timothy Hung-Po TH; Rozycki, Emily B EB; Adkins, Douglas D; Devarakonda, Siddhartha S; Sankararaman, Sumithra S; Lin, Yiing Y; Chapman, William C WC; Maher, Christopher A CA; Arora, Vivek V; Dunn, Gavin P GP; Uppaluri, Ravindra R; Govindan, Ramaswamy R; Griffith, Obi L OL; Griffith, Malachi M
Publication Date: 2023-03-22

Variant appearance in text: TP53: 672G>A
PubMed Link: 36949070
Variant Present in the following documents:
  • 41467_2023_37266_MOESM8_ESM.xlsx, sheet 1
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: 672G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
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: E224E
PubMed Link: 36660245
Variant Present in the following documents:
  • JO2023-3801526.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: rs267605076
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 7
View BVdb publication page



Splicing-Disrupting Mutations in Inherited Predisposition to Solid Pediatric Cancer.

Cancers
Alba-Pavón, Piedad P; Alaña, Lide L; Astigarraga, Itziar I; Villate, Olatz O
Publication Date: 2022-12-02

Variant appearance in text: TP53: 672G>A
PubMed Link: 36497448
Variant Present in the following documents:
  • Main text
  • cancers-14-05967.pdf
View BVdb publication page



Molecular diagnosis of pancreatobiliary tract cancer by detecting mutations and methylation changes in bile samples.

Eclinicalmedicine
He, Shun S; Zeng, Fanxin F; Yin, Huihui H; Wang, Pei P; Bai, Yinlei Y; Song, Qianqian Q; Chu, Jiangtao J; Huang, Zhen Z; Liu, Yumeng Y; Liu, Hong H; Chen, Qichen Q; Liu, Li L; Zhou, Jun J; Hu, Hanjie H; Li, Xingchen X; Li, Tengyan T; Wang, Guiqi G; Cai, Jianqiang J; Jiao, Yuchen Y; Zhao, Hong H
Publication Date: 2023-01

Variant appearance in text: TP53: 672G>A
PubMed Link: 36425869
Variant Present in the following documents:
  • mmc1.xlsx, sheet 8
View BVdb publication page



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

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

Variant appearance in text: TP53: E224E
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Distinct clonal identities of B-ALLs arising after Lenolidomide therapy for multiple myeloma.

Blood Advances
Barnell, Erica K EK; Skidmore, Zachary L ZL; Newcomer, Kenneth F KF; Chavez, Monique M; Campbell, Katie M KM; Cotto, Kelsy C KC; Spies, Nicholas C NC; Ruzinova, Marianna B MB; Wang, Tianjiao T; Abro, Brooj B; Kreisel, Friederike F; Parikh, Bijal A BA; Duncavage, Eric J EJ; Frater, John L JL; Lee, Yi-Shan YS; Hassan, Anjum A; King, Justin J; Kohnen, Daniel R DR; Fiala, Mark A MA; Welch, John S S JSS; Uy, Geoffrey L GL; Vij, Kiran K; Vij, Ravi R; Griffith, Malachi M; Griffith, Obi L OL; Wartman, Lukas D LD
Publication Date: 2022-10-17

Variant appearance in text: TP53: E224E
PubMed Link: 36251745
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Life Science Alliance
Hlaváč, Viktor V; Holý, Petr P; Václavíková, Radka R; Rob, Lukáš L; Hruda, Martin M; Mrhalová, Marcela M; Černaj, Petr P; Bouda, Jiří J; Souček, Pavel P
Publication Date: 2022-10-13

Variant appearance in text: TP53: Glu224Glu
PubMed Link: 36229065
Variant Present in the following documents:
  • LSA-2022-01551_TableS16.xlsx, sheet 1
View BVdb publication page



Age-dependent association of clonal hematopoiesis with COVID-19 mortality in patients over 60 years.

Geroscience
Del Pozo-Valero, Marta M; Corton, Marta M; López-Rodríguez, Rosario R; Mahillo-Fernández, Ignacio I; Ruiz-Hornillos, Javier J; Minguez, Pablo P; Villaverde, Cristina C; Pérez-Tomás, María Elena ME; Barreda-Sánchez, María M; Mancebo, Esther E; , ; Paz-Artal, Estela E; Guillén-Navarro, Encarna E; Almoguera, Berta B; Ayuso, Carmen C
Publication Date: 2022-10-03

Variant appearance in text: TP53: 672G>A; Glu224=
PubMed Link: 36184726
Variant Present in the following documents:
  • 11357_2022_666_MOESM1_ESM.xlsx, sheet 2
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: E224E
PubMed Link: 35871175
Variant Present in the following documents:
  • 41467_2022_31780_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Frontiers In Oncology
Zhang, Jiexia J; Tang, Shuangfeng S; Zhang, Chunning C; Li, Mingyao M; Zheng, Yating Y; Hu, Xue X; Huang, Mengli M; Cheng, Xiangyang X
Publication Date: 2021

Variant appearance in text: TP53: 672G>A; E224E
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: TP53: 672G>A; Glu224=
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.

Bmc Genomics
Chen, Sixian S; Fu, Aizhen A; Lu, Yuan Y; Lu, Wei W; Chen, Yongfeng Y; Hong, Shuiqiang S; Zhou, Suli S; Xiang, Tianmin T; Zhang, Zhenzhen Z; Cai, Yongguang Y
Publication Date: 2022-01-15

Variant appearance in text: TP53: 672G>A; Glu224=
PubMed Link: 35031014
Variant Present in the following documents:
  • 12864_2021_8289_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Integrative genomic and transcriptomic analysis in plasmablastic lymphoma identifies disruption of key regulatory pathways.

Blood Advances
Witte, Hanno M HM; Künstner, Axel A; Hertel, Nadine N; Bernd, Heinz-Wolfram HW; Bernard, Veronica V; Stölting, Stephanie S; Merz, Hartmut H; von Bubnoff, Nikolas N; Busch, Hauke H; Feller, Alfred C AC; Gebauer, Niklas N
Publication Date: 2022-01-25

Variant appearance in text: TP53: E224E
PubMed Link: 34714908
Variant Present in the following documents:
  • advancesADV2021005486-suppl6.xlsx, sheet 1
View BVdb publication page



Molecular correlates of response to eribulin and pembrolizumab in hormone receptor-positive metastatic breast cancer.

Nature Communications
Keenan, Tanya E TE; Guerriero, Jennifer L JL; Barroso-Sousa, Romualdo R; Li, Tianyu T; O'Meara, Tess T; Giobbie-Hurder, Anita A; Tayob, Nabihah N; Hu, Jiani J; Severgnini, Mariano M; Agudo, Judith J; Vaz-Luis, Ines I; Anderson, Leilani L; Attaya, Victoria V; Park, Jihye J; Conway, Jake J; He, Meng Xiao MX; Reardon, Brendan B; Shannon, Erin E; Wulf, Gerburg G; Spring, Laura M LM; Jeselsohn, Rinath R; Krop, Ian I; Lin, Nancy U NU; Partridge, Ann A; Winer, Eric P EP; Mittendorf, Elizabeth A EA; Liu, David D; Van Allen, Eliezer M EM; Tolaney, Sara M SM
Publication Date: 2021-09-21

Variant appearance in text: TP53: 672G>A
PubMed Link: 34548479
Variant Present in the following documents:
  • 41467_2021_25769_MOESM5_ESM.xlsx, sheet 7
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: TP53: 672G>A; E224E
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



Circulating tumor DNA for comprehensive noninvasive monitoring of lymphoma treated with ibrutinib plus nivolumab.

Blood Advances
Bruscaggin, Alessio A; di Bergamo, Lodovico Terzi LT; Spina, Valeria V; Hodkinson, Brendan B; Forestieri, Gabriela G; Bonfiglio, Ferdinando F; Condoluci, Adalgisa A; Wu, Wei W; Pirosa, Maria C MC; Faderl, Martin R MR; Koch, Ricardo R; Schaffer, Michael M; Alvarez, John D JD; Fourneau, Nele N; Gerber, Bernhard B; Stussi, Georg G; Zucca, Emanuele E; Balasubramanian, Sriram S; Rossi, Davide D
Publication Date: 2021-11-23

Variant appearance in text: TP53: 672G>A; E224E
PubMed Link: 34500472
Variant Present in the following documents:
  • advancesADV2021004528-suppl2.xlsx, sheet 7
View BVdb publication page



Acquisition of aneuploidy drives mutant p53-associated gain-of-function phenotypes.

Nature Communications
Redman-Rivera, Lindsay N LN; Shaver, Timothy M TM; Jin, Hailing H; Marshall, Clayton B CB; Schafer, Johanna M JM; Sheng, Quanhu Q; Hongo, Rachel A RA; Beckermann, Kathryn E KE; Wheeler, Ferrin C FC; Lehmann, Brian D BD; Pietenpol, Jennifer A JA
Publication Date: 2021-08-31

Variant appearance in text: TP53: E224E
PubMed Link: 34465782
Variant Present in the following documents:
  • 41467_2021_25359_MOESM5_ESM.xlsx, sheet 31
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: E224E
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Comparison of two targeted ultra-deep sequencing technologies for analysis of plasma circulating tumour DNA in endocrine-therapy-resistant breast cancer patients.

Breast Cancer Research And Treatment
Nteliopoulos, Georgios G; Page, Karen K; Hills, Allison A; Howarth, Karen K; Emmett, Warren W; Green, Emma E; Martinson, Luke J LJ; Fernadez-Garcia, Daniel D; Hastings, Robert R; Guttery, David S DS; Kenny, Laura L; Stebbing, Justin J; Cleator, Susan S; Rehman, Farah F; Gleason, Kelly L T KLT; Sanela, Andrijac A; Ion, Charlotte C; Rushton, Amelia J AJ; Rosenfeld, Nitzan N; Coombes, R Charles RC; Shaw, Jacqueline A JA
Publication Date: 2021-07

Variant appearance in text: TP53: E224E
PubMed Link: 34097174
Variant Present in the following documents:
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 1
  • 10549_2021_6220_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



TP53 Targeted Deep Sequencing of Cell-Free DNA in Esophageal Squamous Cell Carcinoma Using Low-Quality Serum: Concordance with Tumor Mutation.

International Journal Of Molecular Sciences
Nasrollahzadeh, Dariush D; Roshandel, Gholamreza G; Delhomme, Tiffany Myriam TM; Avogbe, Patrice Hodonou PH; Foll, Matthieu M; Saidi, Farrokh F; Poustchi, Hossein H; Sotoudeh, Masoud M; Malekzadeh, Reza R; Brennan, Paul P; Mckay, James J; Hainaut, Pierre P; Abedi-Ardekani, Behnoush B
Publication Date: 2021-05-26

Variant appearance in text: TP53: E224E
PubMed Link: 34073316
Variant Present in the following documents:
  • Main text
  • ijms-22-05627.pdf
View BVdb publication page



The prognostic value of longitudinal circulating tumor DNA profiling during osimertinib treatment.

Translational Lung Cancer Research
Ma, Shenglin S; Shi, Meiqi M; Chen, Xueqin X; Wang, Yong Y; Yang, Zhenhua Z; Lizaso, Analyn A; Li, Min M; Li, Haiyan H; Zhang, Lu L; Mao, Xinru X; Xu, Xingxiang X; Song, Yong Y
Publication Date: 2021-01

Variant appearance in text: TP53: E224=; rs267605076
PubMed Link: 33569316
Variant Present in the following documents:
  • tlcr-10-01-326-supplementary.pdf
View BVdb publication page



Combined assay of Circulating Tumor DNA and Protein Biomarkers for early noninvasive detection and prognosis of Non-Small Cell Lung Cancer.

Journal Of Cancer
Yin, Jian-Xin JX; Hu, Wen-Wei WW; Gu, Hua H; Fang, Jian-Min JM
Publication Date: 2021

Variant appearance in text: TP53: 672G>A; E224=
PubMed Link: 33442424
Variant Present in the following documents:
  • jcav12p1258s2.xlsx, sheet 6
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: rs267605076
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: rs267605076
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



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: E224E
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Classification of gastric cancer by EBV status combined with molecular profiling predicts patient prognosis.

Clinical And Translational Medicine
He, Cai-Yun CY; Qiu, Miao-Zhen MZ; Yang, Xin-Hua XH; Zhou, Da-Lei DL; Ma, Jiang-Jun JJ; Long, Ya-Kang YK; Ye, Zu-Lu ZL; Xu, Bo-Heng BH; Zhao, Qi Q; Jin, Ying Y; Lu, Shi-Xun SX; Wang, Zhi-Qiang ZQ; Guan, Wen-Long WL; Zhao, Bai-Wei BW; Zhou, Zhi-Wei ZW; Shao, Jian-Yong JY; Xu, Rui-Hua RH
Publication Date: 2020-01

Variant appearance in text: TP53: 672G>A; Glu224=; rs267605076
PubMed Link: 32508039
Variant Present in the following documents:
  • CTM2-10-353-s003.xlsx, sheet 3
View BVdb publication page



Coding and noncoding somatic mutations in candidate genes in basal cell carcinoma.

Scientific Reports
Maturo, Maria Giovanna MG; Rachakonda, Sivaramakrishna S; Heidenreich, Barbara B; Pellegrini, Cristina C; Srinivas, Nalini N; Requena, Celia C; Serra-Guillen, Carlos C; Llombart, Beatriz B; Sanmartin, Onofre O; Guillen, Carlos C; Di Nardo, Lucia L; Peris, Ketty K; Fargnoli, Maria Concetta MC; Nagore, Eduardo E; Kumar, Rajiv R
Publication Date: 2020-05-14

Variant appearance in text: TP53: 672G>A; E224E
PubMed Link: 32409749
Variant Present in the following documents:
  • 41598_2020_65057_MOESM1_ESM.pdf
  • 41598_2020_65057_MOESM2_ESM.xlsx, sheet 1
  • 41598_2020_65057_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Comprehensive routine diagnostic screening to identify predictive mutations, gene amplifications, and microsatellite instability in FFPE tumor material.

Bmc Cancer
Steeghs, Elisabeth M P EMP; Kroeze, Leonie I LI; Tops, Bastiaan B J BBJ; van Kempen, Leon C LC; Ter Elst, Arja A; Kastner-van Raaij, Annemiek W M AWM; Hendriks-Cornelissen, Sandra J B SJB; Hermsen, Mandy J W MJW; Jansen, Erik A M EAM; Nederlof, Petra M PM; Schuuring, Ed E; Ligtenberg, Marjolijn J L MJL; Eijkelenboom, Astrid A
Publication Date: 2020-04-07

Variant appearance in text: TP53: 672G>A
PubMed Link: 32264863
Variant Present in the following documents:
  • 12885_2020_6785_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



NOTCH target gene HES5 mediates oncogenic and tumor suppressive functions in hepatocarcinogenesis.

Oncogene
Luiken, Sarah S; Fraas, Angelika A; Bieg, Matthias M; Sugiyanto, Raisatun R; Goeppert, Benjamin B; Singer, Stephan S; Ploeger, Carolin C; Warsow, Gregor G; Marquardt, Jens U JU; Sticht, Carsten C; De La Torre, Carolina C; Pusch, Stefan S; Mehrabi, Arianeb A; Gretz, Norbert N; Schlesner, Matthias M; Eils, Roland R; Schirmacher, Peter P; Longerich, Thomas T; Roessler, Stephanie S
Publication Date: 2020-04

Variant appearance in text: TP53: 672G>A; E224E; rs267605076
PubMed Link: 32055024
Variant Present in the following documents:
  • 41388_2020_1198_MOESM2_ESM.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: E224E
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM13_ESM.xlsx, sheet 1
View BVdb publication page



Identification of 12 cancer types through genome deep learning.

Scientific Reports
Sun, Yingshuai Y; Zhu, Sitao S; Ma, Kailong K; Liu, Weiqing W; Yue, Yao Y; Hu, Gang G; Lu, Huifang H; Chen, Wenbin W
Publication Date: 2019-11-21

Variant appearance in text: TP53: E224E
PubMed Link: 31754222
Variant Present in the following documents:
  • 41598_2019_53989_MOESM4_ESM.xlsx, sheet 7
View BVdb publication page



Pediatric Cancer Variant Pathogenicity Information Exchange (PeCanPIE): a cloud-based platform for curating and classifying germline variants.

Genome Research
Edmonson, Michael N MN; Patel, Aman N AN; Hedges, Dale J DJ; Wang, Zhaoming Z; Rampersaud, Evadnie E; Kesserwan, Chimene A CA; Zhou, Xin X; Liu, Yanling Y; Newman, Scott S; Rusch, Michael C MC; McLeod, Clay L CL; Wilkinson, Mark R MR; Rice, Stephen V SV; Soussi, Thierry T; Taylor, J Paul JP; Benatar, Michael M; Becksfort, Jared B JB; Nichols, Kim E KE; Robison, Leslie L LL; Downing, James R JR; Zhang, Jinghui J
Publication Date: 2019-09

Variant appearance in text: TP53: 672G>A; Glu224=
PubMed Link: 31439692
Variant Present in the following documents:
  • Main text
  • 1555.pdf
View BVdb publication page



Integrated Analysis of TP53 Gene and Pathway Alterations in The Cancer Genome Atlas.

Cell Reports
Donehower, Lawrence A LA; Soussi, Thierry T; Korkut, Anil A; Liu, Yuexin Y; Schultz, Andre A; Cardenas, Maria M; Li, Xubin X; Babur, Ozgun O; Hsu, Teng-Kuei TK; Lichtarge, Olivier O; Weinstein, John N JN; Akbani, Rehan R; Wheeler, David A DA
Publication Date: 2019-07-30

Variant appearance in text: TP53: 672G>A; Glu224=
PubMed Link: 31365877
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated multi-omics analysis of genomics, epigenomics, and transcriptomics in ovarian carcinoma.

Aging
Zheng, Mingjun M; Hu, Yuexin Y; Gou, Rui R; Wang, Jing J; Nie, Xin X; Li, Xiao X; Liu, Qing Q; Liu, Juanjuan J; Lin, Bei B
Publication Date: 2019-06-29

Variant appearance in text: TP53: 672G>A
PubMed Link: 31257224
Variant Present in the following documents:
  • aging-11-102047-s002.xlsx, sheet 13
  • aging-11-102047-s002.xlsx, sheet 11
  • aging-11-102047-s002.xlsx, sheet 12
View BVdb publication page



A pan-cancer analysis of synonymous mutations.

Nature Communications
Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S
Publication Date: 2019-06-12

Variant appearance in text: TP53: 672G>A
PubMed Link: 31189880
Variant Present in the following documents:
  • 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1
  • 41467_2019_10489_MOESM5_ESM.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: 672G>A; Glu224=
PubMed Link: 30886117
Variant Present in the following documents:
  • supp_mcs.a003921_Supplemental_Table_1a.xlsx, sheet 1
View BVdb publication page



Prevalence of germline mutations in the TP53 gene in patients with early-onset breast cancer in the Mexican population.

Bmc Cancer
Gallardo-Alvarado, Lenny N LN; Tusié-Luna, María Teresa MT; Tussié-Luna, María Isabel MI; Díaz-Chávez, José J; Segura, Yayoi X YX; Bargallo-Rocha, Enrique E; Villarreal, Cynthia C; Herrera-Montalvo, Luis A LA; Herrera-Medina, Enrique M EM; Cantu-de Leon, David F DF
Publication Date: 2019-02-01

Variant appearance in text: TP53: 672G>A
PubMed Link: 30709381
Variant Present in the following documents:
  • Main text
  • 12885_2019_Article_5312.pdf
View BVdb publication page



Deep targeted sequencing of TP53 in chronic lymphocytic leukemia: clinical impact at diagnosis and at time of treatment.

Haematologica
Brieghel, Christian C; Kinalis, Savvas S; Yde, Christina W CW; Schmidt, Ane Y AY; Jønson, Lars L; Andersen, Michael A MA; da Cunha-Bang, Caspar C; Pedersen, Lone B LB; Geisler, Christian H CH; Nielsen, Finn C FC; Niemann, Carsten U CU
Publication Date: 2019-04

Variant appearance in text: TP53: 672G>A; Glu224Glu
PubMed Link: 30514802
Variant Present in the following documents:
  • 2018.195818.BRIEGHEL_SUPPL.pdf
View BVdb publication page



Contribution of allelic imbalance to colorectal cancer.

Nature Communications
Palin, Kimmo K; Pitkänen, Esa E; Turunen, Mikko M; Sahu, Biswajyoti B; Pihlajamaa, Päivi P; Kivioja, Teemu T; Kaasinen, Eevi E; Välimäki, Niko N; Hänninen, Ulrika A UA; Cajuso, Tatiana T; Aavikko, Mervi M; Tuupanen, Sari S; Kilpivaara, Outi O; van den Berg, Linda L; Kondelin, Johanna J; Tanskanen, Tomas T; Katainen, Riku R; Grau, Marta M; Rauanheimo, Heli H; Plaketti, Roosa-Maria RM; Taira, Aurora A; Sulo, Päivi P; Hartonen, Tuomo T; Dave, Kashyap K; Schmierer, Bernhard B; Botla, Sandeep S; Sokolova, Maria M; Vähärautio, Anna A; Gladysz, Kornelia K; Ongen, Halit H; Dermitzakis, Emmanouil E; Bramsen, Jesper Bertram JB; Ørntoft, Torben Falck TF; Andersen, Claus Lindbjerg CL; Ristimäki, Ari A; Lepistö, Anna A; Renkonen-Sinisalo, Laura L; Mecklin, Jukka-Pekka JP; Taipale, Jussi J; Aaltonen, Lauri A LA
Publication Date: 2018-09-10

Variant appearance in text: TP53: E224E
PubMed Link: 30202008
Variant Present in the following documents:
  • 41467_2018_6132_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



A study of splicing mutations in disorders of sex development.

Scientific Reports
de Calais, Flavia Leme FL; Smith, Lindsay D LD; Raponi, Michela M; Maciel-Guerra, Andréa Trevas AT; Guerra-Junior, Gil G; de Mello, Maricilda Palandi MP; Baralle, Diana D
Publication Date: 2017-11-24

Variant appearance in text: TP53: 672G>A
PubMed Link: 29176693
Variant Present in the following documents:
  • Main text
  • 41598_2017_Article_16296.pdf
View BVdb publication page



Comprehensive genomic analysis of Oesophageal Squamous Cell Carcinoma reveals clinical relevance.

Scientific Reports
Du, Peina P; Huang, Peide P; Huang, Xuanlin X; Li, Xiangchun X; Feng, Zhimin Z; Li, Fengyu F; Liang, Shaoguang S; Song, Yongmei Y; Stenvang, Jan J; Brünner, Nils N; Yang, Huanming H; Ou, Yunwei Y; Gao, Qiang Q; Li, Lin L
Publication Date: 2017-11-10

Variant appearance in text: TP53: 672G>A; E224E
PubMed Link: 29127303
Variant Present in the following documents:
  • 41598_2017_14909_MOESM4_ESM.xlsx, sheet 1
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: 672G>A; E224E
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Synonymous mutation in TP53 results in a cryptic splice site affecting its DNA-binding site in an adolescent with two primary sarcomas.

Pediatric Blood & Cancer
Austin, Frances F; Oyarbide, Usua U; Massey, Gita G; Grimes, Margaret M; Corey, Seth J SJ
Publication Date: 2017-11

Variant appearance in text: TP53: 672G>A
PubMed Link: 28475293
Variant Present in the following documents:
  • Main text
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: E224E
PubMed Link: 27840695
Variant Present in the following documents:
  • CJP2-2-247-s010.xlsx, sheet 1
View BVdb publication page



Spatio-temporal mutation profiles of case-matched colorectal carcinomas and their metastases reveal unique de novo mutations in metachronous lung metastases by targeted next generation sequencing.

Molecular Cancer
Kovaleva, Valentina V; Geissler, Anna-Lena AL; Lutz, Lisa L; Fritsch, Ralph R; Makowiec, Frank F; Wiesemann, Sebastian S; Hopt, Ulrich T UT; Passlick, Bernward B; Werner, Martin M; Lassmann, Silke S
Publication Date: 2016-10-18

Variant appearance in text: TP53: 672G>A
PubMed Link: 27756406
Variant Present in the following documents:
  • 12943_2016_549_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Recurrent inactivating RASA2 mutations in melanoma.

Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2015-12

Variant appearance in text: TP53: 672G>A
PubMed Link: 26502337
Variant Present in the following documents:
  • NIHMS65345-supplement-Supplementary_table_1.xlsx, sheet 1
  • NIHMS65345-supplement-Supplementary_table_3.xlsx, sheet 2
View BVdb publication page



Multi-tiered genomic analysis of head and neck cancer ties TP53 mutation to 3p loss.

Nature Genetics
Gross, Andrew M AM; Orosco, Ryan K RK; Shen, John P JP; Egloff, Ann Marie AM; Carter, Hannah H; Hofree, Matan M; Choueiri, Michel M; Coffey, Charles S CS; Lippman, Scott M SM; Hayes, D Neil DN; Cohen, Ezra E EE; Grandis, Jennifer R JR; Nguyen, Quyen T QT; Ideker, Trey T
Publication Date: 2014-09

Variant appearance in text: TP53: 672G>A
PubMed Link: 25086664
Variant Present in the following documents:
  • NIHMS612904-supplement-2.xlsx, sheet 8
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: TP53: 672G>A
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page



p53 mutations in classic and pleomorphic invasive lobular carcinoma of the breast.

Cellular Oncology (Dordrecht)
Ercan, Cigdem C; van Diest, Paul J PJ; van der Ende, Bram B; Hinrichs, John J; Bult, Peter P; Buerger, Horst H; van der Wall, Elsken E; Derksen, Patrick W B PW
Publication Date: 2012-04

Variant appearance in text: p53: E224E
PubMed Link: 22354696
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 672G>A; E224E
PubMed Link: 22216294
Variant Present in the following documents:
View BVdb publication page