NOTCH1 c.52_53delinsTT ;(p.A18F)

Variant ID: 9-139440186-GC-AA

NM_017617.3(NOTCH1):c.52_53delinsTT;(p.A18F)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


ETS1 Suppresses Tumorigenesis of Human Breast Cancer via Trans-Activation of Canonical Tumor Suppressor Genes.

Frontiers In Oncology
Kim, Gi-Cheon GC; Lee, Choong-Gu CG; Verma, Ravi R; Rudra, Dipayan D; Kim, Taemook T; Kang, Keunsoo K; Nam, Jong Hee JH; Kim, Young Y; Im, Sin-Hyeog SH; Kwon, Ho-Keun HK
Publication Date: 2020

Variant appearance in text: NOTCH1: A18F
PubMed Link: 32477936
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel Mutation Hotspots within Non-Coding Regulatory Regions of the Chronic Lymphocytic Leukemia Genome.

Scientific Reports
Mosquera Orgueira, Adrián A; Rodríguez Antelo, Beatriz B; Díaz Arias, José Ángel JÁ; Díaz Varela, Nicolás N; Alonso Vence, Natalia N; González Pérez, Marta Sonia MS; Bello López, José Luis JL
Publication Date: 2020-02-12

Variant appearance in text: NOTCH1: A18F
PubMed Link: 32051441
Variant Present in the following documents:
  • Main text
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: a18f
PubMed Link: 31925297
Variant Present in the following documents:
  • 42003_2019_736_MOESM3_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: NOTCH1: A18F
PubMed Link: 28810143
Variant Present in the following documents:
  • mmc4.xlsx, sheet 4
View BVdb publication page