NOTCH1 c.7327G>C ;(p.V2443L)

Variant ID: 9-139390864-C-G

NM_017617.3(NOTCH1):c.7327G>C;(p.V2443L)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Pediatric T-ALL type-1 and type-2 relapses develop along distinct pathways of clonal evolution.

Leukemia
Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Bornhauser, Beat B; Frismantas, Viktoras V; Assenov, Yassen Y; Zimmermann, Martin M; Happich, Margit M; von Knebel-Doeberitz, Caroline C; von Neuhoff, Nils N; Köhler, Rolf R; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Avigad, Smadar S; Pfister, Stefan M SM; Muckenthaler, Martina U MU; Bourquin, Jean-Pierre JP; Korbel, Jan O JO; Kulozik, Andreas E AE
Publication Date: 2022-07

Variant appearance in text: NOTCH1: V2443L
PubMed Link: 35585141
Variant Present in the following documents:
  • 41375_2022_1587_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Blood-Based Surveillance Monitoring of Circulating Tumor DNA From Patients With SCLC Detects Disease Relapse and Predicts Death in Patients With Limited-Stage Disease.

Jto Clinical And Research Reports
Iams, Wade T WT; Kopparapu, Prasad R PR; Yan, Yingjun Y; Muterspaugh, Anel A; Zhao, Zhiguo Z; Chen, Heidi H; Cann, Christopher C; York, Sally S; Horn, Leora L; Ancell, Kristin K; Wyman, Kenneth K; Bertucci, Caterina C; Shaffer, Tristan T; Hodsdon, Lauren A LA; Garg, Kavita K; Hosseini, Seyed Ali SA; Lim, Lee P LP; Lovly, Christine M CM
Publication Date: 2020-06

Variant appearance in text: NOTCH1: V2443L
PubMed Link: 34589931
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



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: V2443L
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



The evolution of relapse of adult T cell acute lymphoblastic leukemia.

Genome Biology
Sentís, Inés I; Gonzalez, Santiago S; Genescà, Eulalia E; García-Hernández, Violeta V; Muiños, Ferran F; Gonzalez, Celia C; López-Arribillaga, Erika E; Gonzalez, Jessica J; Fernandez-Ibarrondo, Lierni L; Mularoni, Loris L; Espinosa, Lluís L; Bellosillo, Beatriz B; Ribera, Josep-Maria JM; Bigas, Anna A; Gonzalez-Perez, Abel A; Lopez-Bigas, Nuria N
Publication Date: 2020-11-23

Variant appearance in text: NOTCH1: V2443L
PubMed Link: 33225950
Variant Present in the following documents:
  • 13059_2020_2192_MOESM1_ESM.xlsx, sheet 5
View BVdb publication page



PDX models recapitulate the genetic and epigenetic landscape of pediatric T-cell leukemia.

Embo Molecular Medicine
Richter-Pechańska, Paulina P; Kunz, Joachim B JB; Bornhauser, Beat B; von Knebel Doeberitz, Caroline C; Rausch, Tobias T; Erarslan-Uysal, Büşra B; Assenov, Yassen Y; Frismantas, Viktoras V; Marovca, Blerim B; Waszak, Sebastian M SM; Zimmermann, Martin M; Seemann, Julia J; Happich, Margit M; Stanulla, Martin M; Schrappe, Martin M; Cario, Gunnar G; Escherich, Gabriele G; Bakharevich, Kseniya K; Kirschner-Schwabe, Renate R; Eckert, Cornelia C; Muckenthaler, Martina U MU; Korbel, Jan O JO; Bourquin, Jean-Pierre JP; Kulozik, Andreas E AE
Publication Date: 2018-12

Variant appearance in text: NOTCH1: V2443L
PubMed Link: 30389682
Variant Present in the following documents:
  • EMMM-10-e9443-s004.xlsx, sheet 2
View BVdb publication page