NOTCH1 c.4699G>A ;(p.E1567K)

Variant ID: 9-139399444-C-T

NM_017617.3(NOTCH1):c.4699G>A;(p.E1567K)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


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: E1567K
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Blood-based monitoring identifies acquired and targetable driver HER2 mutations in endocrine-resistant metastatic breast cancer.

Npj Precision Oncology
Medford, Arielle J AJ; Dubash, Taronish D TD; Juric, Dejan D; Spring, Laura L; Niemierko, Andrzej A; Vidula, Neelima N; Peppercorn, Jeffrey J; Isakoff, Steven S; Reeves, Brittany A BA; LiCausi, Joseph A JA; Wesley, Benjamin B; Malvarosa, Giuliana G; Yuen, Megan M; Wittner, Ben S BS; Lawrence, Michael S MS; Iafrate, A John AJ; Ellisen, Leif L; Moy, Beverly B; Toner, Mehmet M; Maheswaran, Shyamala S; Haber, Daniel A DA; Bardia, Aditya A
Publication Date: 2019

Variant appearance in text: NOTCH1: E1567K
PubMed Link: 31341951
Variant Present in the following documents:
  • Main text
  • 41698_2019_Article_90.pdf
View BVdb publication page



Co-occurring Genomic Alterations and Association With Progression-Free Survival in BRAFV600-Mutated Nonmelanoma Tumors.

Journal Of The National Cancer Institute
Sen, Shiraj S; Meric-Bernstam, Funda F; Hong, David S DS; Hess, Kenneth R KR; Subbiah, Vivek V
Publication Date: 2017-10-01

Variant appearance in text: NOTCH1: E1567K
PubMed Link: 29117359
Variant Present in the following documents:
  • Main text
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: E1567K
PubMed Link: 28878238
Variant Present in the following documents:
  • 41467_2017_493_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page