NOTCH1 c.7475C>A ;(p.S2492*)

Variant ID: 9-139390716-G-T

NM_017617.3(NOTCH1):c.7475C>A;(p.S2492*)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


JAK3 mutations and mitochondrial apoptosis resistance in T-cell acute lymphoblastic leukemia.

Leukemia
Bodaar, Kimberly K; Yamagata, Natsuko N; Barthe, Anais A; Landrigan, Jack J; Chonghaile, Triona Ni TN; Burns, Melissa M; Stevenson, Kristen E KE; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Wood, Brent B; Silverman, Lewis B LB; Teachey, David T DT; Meijerink, Jules P JP; Letai, Anthony A; Gutierrez, Alejandro A
Publication Date: 2022-06

Variant appearance in text: NOTCH1: 7475C>A; S2492*
PubMed Link: 35411095
Variant Present in the following documents:
  • NIHMS1792675-supplement-Supplementary_Table_2.xlsx, sheet 1
View BVdb publication page



KIT/PDGFRA/KDR amplification defines a novel molecular subtype of adenoid cystic carcinoma patients who may benefit from treatment with tyrosine kinase inhibitors.

Translational Cancer Research
Hou, Helei H; Jia, Dongmei D; Yan, Weihua W; Zhang, Xiaoping X; Wang, Chunbao C; Li, Yujun Y; Chen, Hua H; Huang, Weiqing W; Li, Zhuokun Z; Zhang, Xiaochun X
Publication Date: 2020-08

Variant appearance in text: NOTCH1: S2492*
PubMed Link: 35117834
Variant Present in the following documents:
  • tcr-09-08-4703.pdf
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: NOTCH1: 7475C>A; S2492X
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
View BVdb publication page



<i>SF3B1</i>-mutated chronic lymphocytic leukemia shows evidence of NOTCH1 pathway activation including CD20 downregulation

Haematologica
Pozzo, Federico F; Bittolo, Tamara T; Tissino, Erika E; Vit, Filippo F; Vendramini, Elena E; Laurenti, Luca L; D'Arena, Giovanni G; Olivieri, Jacopo J; Pozzato, Gabriele G; Zaja, Francesco F; Chiarenza, Annalisa A; Di Raimondo, Francesco F; Zucchetto, Antonella A; Bomben, Riccardo R; Rossi, Francesca Maria FM; Del Poeta, Giovanni G; Dal Bo, Michele M; Gattei, Valter V
Publication Date: 2021-12-01

Variant appearance in text: NOTCH1: S2492*
PubMed Link: 33121237
Variant Present in the following documents:
  • 2020_261891_POZZO_SUPPL.pdf
View BVdb publication page



Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia.

Plos One
Pouliot, Gayle P GP; Degar, James J; Hinze, Laura L; Kochupurakkal, Bose B; Vo, Chau D CD; Burns, Melissa A MA; Moreau, Lisa L; Ganesa, Chirag C; Roderick, Justine J; Peirs, Sofie S; Menten, Bjorn B; Loh, Mignon L ML; Hunger, Stephen P SP; Silverman, Lewis B LB; Harris, Marian H MH; Stevenson, Kristen E KE; Weinstock, David M DM; Weng, Andrew P AP; Van Vlierberghe, Pieter P; D'Andrea, Alan D AD; Gutierrez, Alejandro A
Publication Date: 2019

Variant appearance in text: NOTCH1: 7475C>A; S2492*
PubMed Link: 31721781
Variant Present in the following documents:
  • pone.0221288.s012.xlsx, sheet 1
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: NOTCH1: S2492X
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



PRC2 loss induces chemoresistance by repressing apoptosis in T cell acute lymphoblastic leukemia.

The Journal Of Experimental Medicine
Ariës, Ingrid M IM; Bodaar, Kimberly K; Karim, Salmaan A SA; Chonghaile, Triona Ni TN; Hinze, Laura L; Burns, Melissa A MA; Pfirrmann, Maren M; Degar, James J; Landrigan, Jack T JT; Balbach, Sebastian S; Peirs, Sofie S; Menten, Björn B; Isenhart, Randi R; Stevenson, Kristen E KE; Neuberg, Donna S DS; Devidas, Meenakshi M; Loh, Mignon L ML; Hunger, Stephen P SP; Teachey, David T DT; Rabin, Karen R KR; Winter, Stuart S SS; Dunsmore, Kimberly P KP; Wood, Brent L BL; Silverman, Lewis B LB; Sallan, Stephen E SE; Van Vlierberghe, Pieter P; Orkin, Stuart H SH; Knoechel, Birgit B; Letai, Anthony G AG; Gutierrez, Alejandro A
Publication Date: 2018-12-03

Variant appearance in text: NOTCH1: 7475C>A; S2492*
PubMed Link: 30404791
Variant Present in the following documents:
  • JEM_20180570_TableS4.xlsx, sheet 1
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: S2492*
PubMed Link: 29998084
Variant Present in the following documents:
  • Main text
  • fonc-08-00229.pdf
View BVdb publication page



Identification of a genetically defined ultra-high-risk group in relapsed pediatric T-lymphoblastic leukemia.

Blood Cancer Journal
Richter-Pechańska, P P; Kunz, J B JB; Hof, J J; Zimmermann, M M; Rausch, T T; Bandapalli, O R OR; Orlova, E E; Scapinello, G G; Sagi, J C JC; Stanulla, M M; Schrappe, M M; Cario, G G; Kirschner-Schwabe, R R; Eckert, C C; Benes, V V; Korbel, J O JO; Muckenthaler, M U MU; Kulozik, A E AE
Publication Date: 2017-02-03

Variant appearance in text: NOTCH1: S2492X
PubMed Link: 28157215
Variant Present in the following documents:
  • bcj20173x11.xlsx, sheet 1
View BVdb publication page



Quantitative phosphotyrosine profiling of patient-derived xenografts identifies therapeutic targets in pediatric leukemia.

Cancer Research
Dolai, Sibasish S; Sia, Keith C S KC; Robbins, Alissa K AK; Zhong, Ling L; Heatley, Sue L SL; Vincent, Tiffaney L TL; Hochgräfe, Falko F; Sutton, Rosemary R; Kurmasheva, Raushan T RT; Revesz, Tamas T; White, Deborah L DL; Houghton, Peter J PJ; Smith, Malcolm A MA; Teachey, David T DT; Daly, Roger J RJ; Raftery, Mark J MJ; Lock, Richard B RB
Publication Date: 2016-05

Variant appearance in text: NOTCH1: S2492*
PubMed Link: 26960974
Variant Present in the following documents:
  • Main text
View BVdb publication page



Efficacy of JAK/STAT pathway inhibition in murine xenograft models of early T-cell precursor (ETP) acute lymphoblastic leukemia.

Blood
Maude, Shannon L SL; Dolai, Sibasish S; Delgado-Martin, Cristina C; Vincent, Tiffaney T; Robbins, Alissa A; Selvanathan, Arthavan A; Ryan, Theresa T; Hall, Junior J; Wood, Andrew C AC; Tasian, Sarah K SK; Hunger, Stephen P SP; Loh, Mignon L ML; Mullighan, Charles G CG; Wood, Brent L BL; Hermiston, Michelle L ML; Grupp, Stephan A SA; Lock, Richard B RB; Teachey, David T DT
Publication Date: 2015-03-12

Variant appearance in text: NOTCH1: S2492*
PubMed Link: 25645356
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deep sequencing identifies genetic heterogeneity and recurrent convergent evolution in chronic lymphocytic leukemia.

Blood
Ojha, Juhi J; Ayres, Jackline J; Secreto, Charla C; Tschumper, Renee R; Rabe, Kari K; Van Dyke, Daniel D; Slager, Susan S; Shanafelt, Tait T; Fonseca, Rafael R; Kay, Neil E NE; Braggio, Esteban E
Publication Date: 2015-01-15

Variant appearance in text: NOTCH1: S2492X
PubMed Link: 25377784
Variant Present in the following documents:
  • Main text
View BVdb publication page