NOTCH1 c.1363G>A ;(p.E455K)

Variant ID: 9-139412282-C-T

NM_017617.3(NOTCH1):c.1363G>A;(p.E455K)

This variant was identified in 30 publications

View GRCh38 version.




Publications:


Altered cytoplasmic and nuclear ADP-ribosylation levels analyzed with an improved ADP-ribose binder are a prognostic factor in renal cell carcinoma.

The Journal Of Pathology. Clinical Research
Schraml, Peter P; Aimi, Fabio F; Zoche, Martin M; Aguilera-Garcia, Domingo D; Arnold, Fabian F; Moch, Holger H; Hottiger, Michael O MO
Publication Date: 2023-03-31

Variant appearance in text: NOTCH1: E455K
PubMed Link: 36999983
Variant Present in the following documents:
  • CJP2-9-273-s001.xlsx, sheet 9
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: NOTCH1: E455K
PubMed Link: 36966136
Variant Present in the following documents:
  • 41467_2023_37440_MOESM4_ESM.xlsx, sheet 2
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: NOTCH1: E455K
PubMed Link: 36396655
Variant Present in the following documents:
  • 41467_2022_34746_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: NOTCH1: E455K
PubMed Link: 36344544
Variant Present in the following documents:
  • 41467_2022_34523_MOESM4_ESM.xlsx, sheet 4
View BVdb publication page



Alterations in homologous recombination repair genes in prostate cancer brain metastases.

Nature Communications
Rodriguez-Calero, Antonio A; Gallon, John J; Akhoundova, Dilara D; Maletti, Sina S; Ferguson, Alison A; Cyrta, Joanna J; Amstutz, Ursula U; Garofoli, Andrea A; Paradiso, Viola V; Tomlins, Scott A SA; Hewer, Ekkehard E; Genitsch, Vera V; Fleischmann, Achim A; Vassella, Erik E; Rushing, Elisabeth J EJ; Grobholz, Rainer R; Fischer, Ingeborg I; Jochum, Wolfram W; Cathomas, Gieri G; Osunkoya, Adeboye O AO; Bubendorf, Lukas L; Moch, Holger H; Thalmann, George G; Ng, Charlotte K Y CKY; Gillessen, Silke S; Piscuoglio, Salvatore S; Rubin, Mark A MA
Publication Date: 2022-05-03

Variant appearance in text: NOTCH1: Glu455Lys
PubMed Link: 35504881
Variant Present in the following documents:
  • 41467_2022_30003_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Deleterious mutations in esophageal carcinoma cuniculatum detected by next generation sequencing.

International Journal Of Clinical And Experimental Pathology
Yin, Feng F; Wang, Kai K; Hu, Ming M; Starostik, Petr P; Newsom, Kimberly J KJ; Liu, Xiuli X
Publication Date: 2022

Variant appearance in text: NOTCH1: 1363G>A; Glu455Lys
PubMed Link: 35145582
Variant Present in the following documents:
  • Main text
View BVdb publication page



Identification of Immune-Related Gene Signatures in Lung Adenocarcinoma and Lung Squamous Cell Carcinoma.

Frontiers In Immunology
Li, Na N; Wang, Jiahong J; Zhan, Xianquan X
Publication Date: 2021

Variant appearance in text: NOTCH1: 1363G>A; E455K
PubMed Link: 34887858
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Longitudinal detection of somatic mutations in saliva and plasma for the surveillance of oral squamous cell carcinomas.

Plos One
Cui, Ying Y; Kim, Hae-Suk HS; Cho, Eunae Sandra ES; Han, Dawool D; Park, Jung Ah JA; Park, Ju Yeong JY; Nam, Woong W; Kim, Hyung Jun HJ; Cha, In-Ho IH; Cha, Yong Hoon YH
Publication Date: 2021

Variant appearance in text: NOTCH1: 1363G>A; Glu455Lys
PubMed Link: 34478472
Variant Present in the following documents:
  • pone.0256979.s002.xlsx, sheet 1
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: NOTCH1: E455K
PubMed Link: 34272401
Variant Present in the following documents:
  • 41525_2021_226_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



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

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

Variant appearance in text: NOTCH1: E455K
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.

Frontiers In Immunology
Punta, Marco M; Jennings, Victoria A VA; Melcher, Alan A AA; Lise, Stefano S
Publication Date: 2020

Variant appearance in text: NOTCH1: E455K
PubMed Link: 33133066
Variant Present in the following documents:
  • Table_6.xlsx, sheet 7
  • Table_6.xlsx, sheet 2
  • Table_1.xlsx, sheet 2
View BVdb publication page



Identification of new driver and passenger mutations within APOBEC-induced hotspot mutations in bladder cancer.

Genome Medicine
Shi, Ming-Jun MJ; Meng, Xiang-Yu XY; Fontugne, Jacqueline J; Chen, Chun-Long CL; Radvanyi, François F; Bernard-Pierrot, Isabelle I
Publication Date: 2020-09-28

Variant appearance in text: NOTCH1: 1363G>A; E455K
PubMed Link: 32988402
Variant Present in the following documents:
  • 13073_2020_781_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Identification of second primary tumors from lung metastases in patients with esophageal squamous cell carcinoma using whole-exome sequencing.

Theranostics
Xue, Liyan L; Li, Weihua W; Fan, Xinyi X; Zhao, Zitong Z; Zhou, Wei W; Feng, Zhimin Z; Liu, Linxiu L; Lin, Hua H; Li, Lin L; Xue, Xuemin X; Huang, Xuanlin X; Huang, Peide P; Guo, Jia J; Du, Peina P; Lu, Ning N; Li, Lin L; Zhan, Qimin Q; Song, Yongmei Y
Publication Date: 2020

Variant appearance in text: NOTCH1: 1363G>A; Glu455Lys
PubMed Link: 32929369
Variant Present in the following documents:
  • thnov10p10606s2.xls, sheet 3
View BVdb publication page



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

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

Variant appearance in text: NOTCH1: E455K
PubMed Link: 32732999
Variant Present in the following documents:
  • 41467_2020_17659_MOESM3_ESM.xls, sheet 1
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: NOTCH1: E455K
PubMed Link: 32579932
Variant Present in the following documents:
  • mmc5.xlsx, sheet 3
View BVdb publication page



Tobacco smoking and somatic mutations in human bronchial epithelium.

Nature
Yoshida, Kenichi K; Gowers, Kate H C KHC; Lee-Six, Henry H; Chandrasekharan, Deepak P DP; Coorens, Tim T; Maughan, Elizabeth F EF; Beal, Kathryn K; Menzies, Andrew A; Millar, Fraser R FR; Anderson, Elizabeth E; Clarke, Sarah E SE; Pennycuick, Adam A; Thakrar, Ricky M RM; Butler, Colin R CR; Kakiuchi, Nobuyuki N; Hirano, Tomonori T; Hynds, Robert E RE; Stratton, Michael R MR; Martincorena, Iñigo I; Janes, Sam M SM; Campbell, Peter J PJ
Publication Date: 2020-02

Variant appearance in text: NOTCH1: E455K
PubMed Link: 31996850
Variant Present in the following documents:
  • EMS85334-supplement-Supplementary_Tables_1_5.xlsx, sheet 5
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: NOTCH1: 1363G>A; E455K
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM10_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM4_ESM.xlsx, sheet 1
  • 42003_2019_736_MOESM13_ESM.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: NOTCH1: 1363G>A; E455K
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: NOTCH1: Glu455Lys
PubMed Link: 31645765
Variant Present in the following documents:
  • 41586_2019_1689_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Analysis of error profiles in deep next-generation sequencing data.

Genome Biology
Ma, Xiaotu X; Shao, Ying Y; Tian, Liqing L; Flasch, Diane A DA; Mulder, Heather L HL; Edmonson, Michael N MN; Liu, Yu Y; Chen, Xiang X; Newman, Scott S; Nakitandwe, Joy J; Li, Yongjin Y; Li, Benshang B; Shen, Shuhong S; Wang, Zhaoming Z; Shurtleff, Sheila S; Robison, Leslie L LL; Levy, Shawn S; Easton, John J; Zhang, Jinghui J
Publication Date: 2019-03-14

Variant appearance in text: NOTCH1: E455K
PubMed Link: 30867008
Variant Present in the following documents:
  • 13059_2019_1659_MOESM1_ESM.xlsx, sheet 7
View BVdb publication page



The genomic landscape of small cell carcinoma of the esophagus.

Cell Research
Wang, Feng F; Liu, Dong-Bing DB; Zhao, Qi Q; Chen, Gang G; Liu, Xin-Ming XM; Wang, Ying-Nan YN; Su, Hong H; Qin, Yan-Ru YR; He, Yi-Fu YF; Zou, Qing-Feng QF; Liu, Yan-Hui YH; Lin, You-En YE; Liu, Ze-Xian ZX; Bei, Jin-Xin JX; Xu, Rui-Hua RH
Publication Date: 2018-07

Variant appearance in text: NOTCH1: E455K
PubMed Link: 29728688
Variant Present in the following documents:
  • 41422_2018_39_MOESM18_ESM.xls, sheet 1
View BVdb publication page



Genomic Features of Response to Combination Immunotherapy in Patients with Advanced Non-Small-Cell Lung Cancer.

Cancer Cell
Hellmann, Matthew D MD; Nathanson, Tavi T; Rizvi, Hira H; Creelan, Benjamin C BC; Sanchez-Vega, Francisco F; Ahuja, Arun A; Ni, Ai A; Novik, Jacki B JB; Mangarin, Levi M B LMB; Abu-Akeel, Mohsen M; Liu, Cailian C; Sauter, Jennifer L JL; Rekhtman, Natasha N; Chang, Eliza E; Callahan, Margaret K MK; Chaft, Jamie E JE; Voss, Martin H MH; Tenet, Megan M; Li, Xue-Mei XM; Covello, Kelly K; Renninger, Andrea A; Vitazka, Patrik P; Geese, William J WJ; Borghaei, Hossein H; Rudin, Charles M CM; Antonia, Scott J SJ; Swanton, Charles C; Hammerbacher, Jeff J; Merghoub, Taha T; McGranahan, Nicholas N; Snyder, Alexandra A; Wolchok, Jedd D JD
Publication Date: 2018-05-14

Variant appearance in text: NOTCH1: E455K
PubMed Link: 29657128
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: E455K
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page



APOBEC3A is an oral cancer prognostic biomarker in Taiwanese carriers of an APOBEC deletion polymorphism.

Nature Communications
Chen, Ting-Wen TW; Lee, Chi-Ching CC; Liu, Hsuan H; Wu, Chi-Sheng CS; Pickering, Curtis R CR; Huang, Po-Jung PJ; Wang, Jing J; Chang, Ian Yi-Feng IY; Yeh, Yuan-Ming YM; Chen, Chih-De CD; Li, Hsin-Pai HP; Luo, Ji-Dung JD; Tan, Bertrand Chin-Ming BC; Chan, Timothy En Haw TEH; Hsueh, Chuen C; Chu, Lichieh Julie LJ; Chen, Yi-Ting YT; Zhang, Bing B; Yang, Chia-Yu CY; Wu, Chih-Ching CC; Hsu, Chia-Wei CW; See, Lai-Chu LC; Tang, Petrus P; Yu, Jau-Song JS; Liao, Wei-Chao WC; Chiang, Wei-Fan WF; Rodriguez, Henry H; Myers, Jeffrey N JN; Chang, Kai-Ping KP; Chang, Yu-Sun YS
Publication Date: 2017-09-06

Variant appearance in text: NOTCH1: E455K
PubMed Link: 28878238
Variant Present in the following documents:
  • 41467_2017_493_MOESM5_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: NOTCH1: E455K
PubMed Link: 28420421
Variant Present in the following documents:
  • 13073_2017_424_MOESM7_ESM.xlsx, sheet 1
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: NOTCH1: 1363G>A; E455K
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 2
View BVdb publication page



Does Notch play a tumor suppressor role across diverse squamous cell carcinomas?

Cancer Medicine
Zhang, Min M; Biswas, Sangita S; Qin, Xin X; Gong, Wenrong W; Deng, Wenbing W; Yu, Hongjun H
Publication Date: 2016-08

Variant appearance in text: NOTCH1: E455K
PubMed Link: 27228302
Variant Present in the following documents:
  • Main text
  • CAM4-5-2048.pdf
View BVdb publication page



Somatic Mutations and Genetic Variants of NOTCH1 in Head and Neck Squamous Cell Carcinoma Occurrence and Development.

Scientific Reports
Liu, Yu-Fan YF; Chiang, Shang-Lun SL; Lin, Chien-Yu CY; Chang, Jan-Gowth JG; Chung, Chia-Min CM; Ko, Albert Min-Shan AM; Lin, You-Zhe YZ; Lee, Chien-Hung CH; Lee, Ka-Wo KW; Chen, Mu-Kuan MK; Hua, Chun-Hung CH; Tsai, Ming-Hsui MH; Chen, Yuan-Chien YC; Ko, Ying-Chin YC
Publication Date: 2016-04-01

Variant appearance in text: NOTCH1: E455K
PubMed Link: 27035284
Variant Present in the following documents:
  • Main text
  • srep24014.pdf
View BVdb publication page



Whole-genome sequencing in multiplex families with psychoses reveals mutations in the SHANK2 and SMARCA1 genes segregating with illness.

Molecular Psychiatry
Homann, O R OR; Misura, K K; Lamas, E E; Sandrock, R W RW; Nelson, P P; McDonough, S I SI; DeLisi, L E LE
Publication Date: 2016-12

Variant appearance in text: NOTCH1: E455K
PubMed Link: 27001614
Variant Present in the following documents:
  • NIHMS753666-supplement-2.xlsx, sheet 8
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: NOTCH1: E455K
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
  • NIHMS630249-supplement-6.xlsx, sheet 1
View BVdb publication page