NOTCH1 c.7180C>T ;(p.Q2394*)

Variant ID: 9-139391011-G-A

NM_017617.3(NOTCH1):c.7180C>T;(p.Q2394*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Safety, recommended dose, efficacy and immune correlates for nintedanib in combination with pembrolizumab in patients with advanced cancers.

Journal Of Experimental & Clinical Cancer Research : Cr
Baldini, Capucine C; Danlos, Francois-Xavier FX; Varga, Andreea A; Texier, Matthieu M; Halse, Heloise H; Mouraud, Severine S; Cassard, Lydie L; Champiat, Stéphane S; Signolle, Nicolas N; Vuagnat, Perrine P; Martin-Romano, Patricia P; Michot, Jean-Marie JM; Bahleda, Rastislav R; Gazzah, Anas A; Boselli, Lisa L; Bredel, Delphine D; Grivel, Jonathan J; Mohamed-Djalim, Chifaou C; Escriou, Guillaume G; Grynszpan, Laetitia L; Bigorgne, Amelie A; Rafie, Saloomeh S; Abbassi, Alae A; Ribrag, Vincent V; Postel-Vinay, Sophie S; Hollebecque, Antoine A; Susini, Sandrine S; Farhane, Siham S; Lacroix, Ludovic L; Parpaleix, Aurelien A; Laghouati, Salim S; Zitvogel, Laurence L; Adam, Julien J; Chaput, Nathalie N; Soria, Jean-Charles JC; Massard, Christophe C; Marabelle, Aurelien A
Publication Date: 2022-07-07

Variant appearance in text: NOTCH1: Gln2394Ter
PubMed Link: 35794623
Variant Present in the following documents:
  • 13046_2022_Article_2423.pdf
View BVdb publication page



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: Q2394*
PubMed Link: 35399540
Variant Present in the following documents:
  • bls-4-16-s005.xlsx, sheet 2
View BVdb publication page



Genetic profile of adult T-cell leukemia/lymphoma in Okinawa: Association with prognosis, ethnicity, and HTLV-1 strains.

Cancer Science
Sakihama, Shugo S; Morichika, Kazuho K; Saito, Rumiko R; Miyara, Megumi M; Miyagi, Takashi T; Hayashi, Masaki M; Uchihara, Junnosuke J; Tomoyose, Takeaki T; Ohshiro, Kazuiku K; Nakayama, Shingo S; Nakachi, Sawako S; Morishima, Satoko S; Sakai, Kazuko K; Nishio, Kazuto K; Masuzaki, Hiroaki H; Fukushima, Takuya T; Karube, Kennosuke K
Publication Date: 2021-03

Variant appearance in text: NOTCH1: Q2394*
PubMed Link: 33426772
Variant Present in the following documents:
  • CAS-112-1300-s002.xlsx, sheet 4
View BVdb publication page



Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1.

Haematologica
Tausch, Eugen E; Beck, Philipp P; Schlenk, Richard F RF; Jebaraj, Billy J BJ; Dolnik, Anna A; Yosifov, Deyan Y DY; Hillmen, Peter P; Offner, Fritz F; Janssens, Ann A; Babu, Govind K GK; Grosicki, Sebastian S; Mayer, Jiri J; Panagiotidis, Panagiotis P; McKeown, Astrid A; Gupta, Ira V IV; Skorupa, Alexandra A; Pallaud, Celine C; Bullinger, Lars L; Mertens, Daniel D; Döhner, Hartmut H; Stilgenbauer, Stephan S
Publication Date: 2020-10-01

Variant appearance in text: NOTCH1: Q2394*
PubMed Link: 33054084
Variant Present in the following documents:
  • 2019.229161.TAUSCH_SUPPL.pdf
View BVdb publication page



NOTCH1 Aberrations in Chronic Lymphocytic Leukemia.

Frontiers In Oncology
Rosati, Emanuela E; Baldoni, Stefano S; De Falco, Filomena F; Del Papa, Beatrice B; Dorillo, Erica E; Rompietti, Chiara C; Albi, Elisa E; Falzetti, Franca F; Di Ianni, Mauro M; Sportoletti, Paolo P
Publication Date: 2018

Variant appearance in text: NOTCH1: Q2394*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical impact of miR-223 expression in pediatric T-Cell lymphoblastic lymphoma.

Oncotarget
Pomari, Elena E; Lovisa, Federica F; Carraro, Elisa E; Primerano, Simona S; D'Amore, Emanuele S G ESG; Bonvini, Paolo P; Nigro, Luca Lo LL; Vito, Rita De R; Vinti, Luciana L; Farruggia, Piero P; Pillon, Marta M; Basso, Giuseppe G; Basso, Katia K; Mussolin, Lara L
Publication Date: 2017-12-08

Variant appearance in text: NOTCH1: 7180C>T; Q2394*
PubMed Link: 29296210
Variant Present in the following documents:
View BVdb publication page



Clinical impact of the subclonal architecture and mutational complexity in chronic lymphocytic leukemia.

Leukemia
Nadeu, F F; Clot, G G; Delgado, J J; Martín-García, D D; Baumann, T T; Salaverria, I I; Beà, S S; Pinyol, M M; Jares, P P; Navarro, A A; Suárez-Cisneros, H H; Aymerich, M M; Rozman, M M; Villamor, N N; Colomer, D D; González, M M; Alcoceba, M M; Terol, M J MJ; Navarro, B B; Colado, E E; Payer, Á R ÁR; Puente, X S XS; López-Otín, C C; López-Guillermo, A A; Enjuanes, A A; Campo, E E
Publication Date: 2018-03

Variant appearance in text: NOTCH1: Q2394*
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.xlsx, sheet 1
  • leu2017291x5.xlsx, sheet 1
View BVdb publication page