NOTCH1 c.5162T>G ;(p.V1721G)

Variant ID: 9-139397639-A-C

NM_017617.3(NOTCH1):c.5162T>G;(p.V1721G)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Integrated genomic analyses identify high-risk factors and actionable targets in T-cell acute lymphoblastic leukemia.

Blood Science (Baltimore, Md.)
Zhu, Haichuan H; Dong, Bingjie B; Zhang, Yingchi Y; Wang, Mei M; Rao, Jianan J; Cui, Bowen B; Liu, Yu Y; Jiang, Qian Q; Wang, Weitao W; Yang, Lu L; Yu, Anqi A; Li, Zongru Z; Liu, Chao C; Zhang, Leping L; Huang, Xiaojun X; Zhu, Xiaofan X; Wu, Hong H
Publication Date: 2022-01

Variant appearance in text: NOTCH1: V1721G
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
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: NOTCH1: 5162T>G; V1721G
PubMed Link: 35087742
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
  • Table_1.xlsx, sheet 1
View BVdb publication page



Long-term disease control and survival observed after stereotactic ablative body radiotherapy for oligometastatic breast cancer.

Cancer Medicine
Wijetunga, N Ari NA; Dos Anjos, Carlos H CH; Zhi, W Iris WI; Robson, Mark M; Tsai, C Jillian CJ; Yamada, Yoshiya Y; Dover, Laura L; Gillespie, Erin F EF; Xu, Amy J AJ; Yang, Jonathan T JT
Publication Date: 2021-08

Variant appearance in text: NOTCH1: 5162T>G; V1721G
PubMed Link: 34159748
Variant Present in the following documents:
  • CAM4-10-5163-s001.xlsx, sheet 8
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: NOTCH1: V1721G
PubMed Link: 33854067
Variant Present in the following documents:
  • 41467_2021_22478_MOESM8_ESM.xlsx, sheet 9
View BVdb publication page



Phase and context shape the function of composite oncogenic mutations.

Nature
Gorelick, Alexander N AN; Sánchez-Rivera, Francisco J FJ; Cai, Yanyan Y; Bielski, Craig M CM; Biederstedt, Evan E; Jonsson, Philip P; Richards, Allison L AL; Vasan, Neil N; Penson, Alexander V AV; Friedman, Noah D ND; Ho, Yu-Jui YJ; Baslan, Timour T; Bandlamudi, Chaitanya C; Scaltriti, Maurizio M; Schultz, Nikolaus N; Lowe, Scott W SW; Reznik, Ed E; Taylor, Barry S BS
Publication Date: 2020-06

Variant appearance in text: NOTCH1: V1721G
PubMed Link: 32461694
Variant Present in the following documents:
  • NIHMS1582596-supplement-1582596_Supp_Tab1-5.xlsx, sheet 2
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: NOTCH1: V1721G
PubMed Link: 31854063
Variant Present in the following documents:
  • MOL2-14-504-s010.xlsx, sheet 1
View BVdb publication page



Diffuse Staining for Activated NOTCH1 Correlates With NOTCH1 Mutation Status and Is Associated With Worse Outcome in Adenoid Cystic Carcinoma.

The American Journal Of Surgical Pathology
Sajed, Dipti P DP; Faquin, William C WC; Carey, Chris C; Severson, Eric A EA; H Afrogheh, Amir A; A Johnson, Carl C; Blacklow, Stephen C SC; Chau, Nicole G NG; Lin, Derrick T DT; Krane, Jeffrey F JF; Jo, Vickie Y VY; Garcia, Joaquín J JJ; Sholl, Lynette M LM; Aster, Jon C JC
Publication Date: 2017-11

Variant appearance in text: NOTCH1: 5162T>G; V1721G
PubMed Link: 28914715
Variant Present in the following documents:
  • Main text
View BVdb publication page



Activating NOTCH1 Mutations Define a Distinct Subgroup of Patients With Adenoid Cystic Carcinoma Who Have Poor Prognosis, Propensity to Bone and Liver Metastasis, and Potential Responsiveness to Notch1 Inhibitors.

Journal Of Clinical Oncology : Official Journal Of The American Society Of Clinical Oncology
Ferrarotto, Renata R; Mitani, Yoshitsugu Y; Diao, Lixia L; Guijarro, Irene I; Wang, Jing J; Zweidler-McKay, Patrick P; Bell, Diana D; William, William N WN; Glisson, Bonnie S BS; Wick, Michael J MJ; Kapoun, Ann M AM; Patnaik, Amita A; Eckhardt, Gail G; Munster, Pamela P; Faoro, Leonardo L; Dupont, Jakob J; Lee, J Jack JJ; Futreal, Andrew A; El-Naggar, Adel K AK; Heymach, John V JV
Publication Date: 2017-01-20

Variant appearance in text: NOTCH1: V1721G
PubMed Link: 27870570
Variant Present in the following documents:
  • Main text
  • JCO.2016.67.5264.pdf
View BVdb publication page