NOTCH1 c.7444del ;(p.L2482*)

Variant ID: 9-139390746-AG-A

NM_017617.3(NOTCH1):c.7444del;(p.L2482*)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Overexpression of c-Myc-dependent heterogeneous nuclear ribonucleoprotein A1 promotes proliferation and inhibits apoptosis in NOTCH1-mutated chronic lymphocytic leukemia cells.

Chinese Medical Journal
Zou, Yixin Y; Tang, Hanning H; Miao, Yi Y; Zhu, Huayuan H; Wang, Li L; Fan, Lei L; Fu, Jianxin J; Xu, Wei W; Li, Jianyong J; Xia, Yi Y
Publication Date: 2022-04-20

Variant appearance in text: NOTCH1: 7443delC
PubMed Link: 35730371
Variant Present in the following documents:
  • Main text
  • cm9-135-0920.pdf
View BVdb publication page



Distinct genetic changes reveal evolutionary history and heterogeneous molecular grade of DLBCL with MYC/BCL2 double-hit.

Leukemia
Cucco, Francesco F; Barrans, Sharon S; Sha, Chulin C; Clipson, Alexandra A; Crouch, Simon S; Dobson, Rachel R; Chen, Zi Z; Thompson, Joe Sneath JS; Care, Matthew A MA; Cummin, Thomas T; Caddy, Josh J; Liu, Hongxiang H; Robinson, Anne A; Schuh, Anna A; Fitzgibbon, Jude J; Painter, Daniel D; Smith, Alexandra A; Roman, Eve E; Tooze, Reuben R; Burton, Catherine C; Davies, Andrew J AJ; Westhead, David R DR; Johnson, Peter W M PWM; Du, Ming-Qing MQ
Publication Date: 2020-05

Variant appearance in text: NOTCH1: 7444delC; L2482X
PubMed Link: 31844144
Variant Present in the following documents:
  • 41375_2019_691_MOESM7_ESM.xlsx, sheet 2
View BVdb publication page



Design and MinION testing of a nanopore targeted gene sequencing panel for chronic lymphocytic leukemia.

Scientific Reports
Orsini, Paola P; Minervini, Crescenzio F CF; Cumbo, Cosimo C; Anelli, Luisa L; Zagaria, Antonella A; Minervini, Angela A; Coccaro, Nicoletta N; Tota, Giuseppina G; Casieri, Paola P; Impera, Luciana L; Parciante, Elisa E; Brunetti, Claudia C; Giordano, Annamaria A; Specchia, Giorgina G; Albano, Francesco F
Publication Date: 2018-08-07

Variant appearance in text: NOTCH1: 7444delC; L2482X
PubMed Link: 30087429
Variant Present in the following documents:
  • 41598_2018_30330_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



NOTCH1 mutation and its prognostic significance in Chinese chronic lymphocytic leukemia: a retrospective study of 317 cases.

Cancer Medicine
Zou, Yixin Y; Fan, Lei L; Xia, Yi Y; Miao, Yi Y; Wu, Wei W; Cao, Lei L; Wu, Jiazhu J; Zhu, Huayuan H; Qiao, Chun C; Wang, Li L; Xu, Wei W; Li, Jianyong J
Publication Date: 2018-05

Variant appearance in text: NOTCH1: 7443delC
PubMed Link: 29573199
Variant Present in the following documents:
  • Main text
  • CAM4-7-1689.pdf
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: 7444delC; L2482*
PubMed Link: 28924241
Variant Present in the following documents:
  • leu2017291x4.xlsx, sheet 1
View BVdb publication page



Frequencies of SF3B1, NOTCH1, MYD88, BIRC3 and IGHV mutations and TP53 disruptions in Chinese with chronic lymphocytic leukemia: disparities with Europeans.

Oncotarget
Xia, Yi Y; Fan, Lei L; Wang, Li L; Gale, Robert Peter RP; Wang, Man M; Tian, Tian T; Wu, Wei W; Yu, Liang L; Chen, Yao-Yu YY; Xu, Wei W; Li, Jian-Yong JY
Publication Date: 2015-03-10

Variant appearance in text: NOTCH1: 7443delC
PubMed Link: 25605254
Variant Present in the following documents:
  • oncotarget-06-5426-s001.pdf
View BVdb publication page