ATM c.8631G>T ;(p.L2877F)

Variant ID: 11-108218052-G-T

NM_000051.3(ATM):c.8631G>T;(p.L2877F)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2021-11-10

Variant appearance in text: ATM: L2877F
PubMed Link: 34759345
Variant Present in the following documents:
  • Main text
  • 41388_2021_Article_2102.pdf
View BVdb publication page



Pharmaco-proteogenomic profiling of pediatric diffuse midline glioma to inform future treatment strategies.

Oncogene
Findlay, Izac J IJ; De Iuliis, Geoffry N GN; Duchatel, Ryan J RJ; Jackson, Evangeline R ER; Vitanza, Nicholas A NA; Cain, Jason E JE; Waszak, Sebastian M SM; Dun, Matthew D MD
Publication Date: 2022-01

Variant appearance in text: ATM: L2877F
PubMed Link: 34759345
Variant Present in the following documents:
  • Main text
  • 41388_2021_Article_2102.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 8631G>T; L2877F
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 10
View BVdb publication page



Integrated Whole-Exome and Transcriptome Sequencing of Sporadic Parathyroid Adenoma.

Frontiers In Endocrinology
Hu, Ya Y; Zhang, Xiang X; Wang, Ou O; Cui, Ming M; Li, Xiaobin X; Wang, Mengyi M; Hua, Surong S; Liao, Quan Q
Publication Date: 2021

Variant appearance in text: ATM: L2877F
PubMed Link: 34054720
Variant Present in the following documents:
  • Table_1.xlsx, sheet 1
View BVdb publication page



Clonal evolution in chronic lymphocytic leukemia is scant in relapsed but accelerated in refractory cases after chemo(immune) therapy.

Haematologica
Zapatka, Marc M; Tausch, Eugen E; Öztürk, Selcen S; Yosifov, Deyan Yordanov DY; Seiffert, Martina M; Zenz, Thorsten T; Schneider, Christof C; Blöhdorn, Johannes J; Döhner, Hartmut H; Mertens, Daniel D; Lichter, Peter P; Stilgenbauer, Stephan S
Publication Date: 2022-03-01

Variant appearance in text: ATM: L2877F
PubMed Link: 33691380
Variant Present in the following documents:
  • 2020_265777_ZAPATKA_TABS4.xlsx, sheet 1
View BVdb publication page



Global activation of oncogenic pathways underlies therapy resistance in diffuse midline glioma.

Acta Neuropathologica Communications
Georgescu, M-M MM; Islam, M Z MZ; Li, Y Y; Circu, M L ML; Traylor, J J; Notarianni, C M CM; Kline, C N CN; Burns, D K DK
Publication Date: 2020-07-17

Variant appearance in text: ATM: L2877F
PubMed Link: 32680567
Variant Present in the following documents:
  • Main text
  • 40478_2020_992_MOESM1_ESM.pdf
  • 40478_2020_Article_992.pdf
View BVdb publication page



Comprehensive characterization of the mutational landscape in multiple myeloma cell lines reveals potential drivers and pathways associated with tumor progression and drug resistance.

Theranostics
Vikova, Veronika V; Jourdan, Michel M; Robert, Nicolas N; Requirand, Guilhem G; Boireau, Stéphanie S; Bruyer, Angélique A; Vincent, Laure L; Cartron, Guillaume G; Klein, Bernard B; Elemento, Olivier O; Kassambara, Alboukadel A; Moreaux, Jérôme J
Publication Date: 2019

Variant appearance in text: ATM: L2877F
PubMed Link: 30809292
Variant Present in the following documents:
  • thnov09p0540s1.pdf
View BVdb publication page



Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Nature Communications
Schrader, A A; Crispatzu, G G; Oberbeck, S S; Mayer, P P; Pützer, S S; von Jan, J J; Vasyutina, E E; Warner, K K; Weit, N N; Pflug, N N; Braun, T T; Andersson, E I EI; Yadav, B B; Riabinska, A A; Maurer, B B; Ventura Ferreira, M S MS; Beier, F F; Altmüller, J J; Lanasa, M M; Herling, C D CD; Haferlach, T T; Stilgenbauer, S S; Hopfinger, G G; Peifer, M M; Brümmendorf, T H TH; Nürnberg, P P; Elenitoba-Johnson, K S J KSJ; Zha, S S; Hallek, M M; Moriggl, R R; Reinhardt, H C HC; Stern, M-H MH; Mustjoki, S S; Newrzela, S S; Frommolt, P P; Herling, M M
Publication Date: 2018-02-15

Variant appearance in text: ATM: L2877F
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



Comparison of intramedullary myeloma and corresponding extramedullary soft tissue plasmacytomas using genetic mutational panel analyses.

Blood Cancer Journal
de Haart, S J SJ; Willems, S M SM; Mutis, T T; Koudijs, M J MJ; van Blokland, M T MT; Lokhorst, H M HM; de Weger, R A RA; Minnema, M C MC
Publication Date: 2016-05-20

Variant appearance in text: ATM: L2877F
PubMed Link: 27206246
Variant Present in the following documents:
  • Main text
  • bcj201635a.pdf
View BVdb publication page



Integrated genomic sequencing reveals mutational landscape of T-cell prolymphocytic leukemia.

Blood
Kiel, Mark J MJ; Velusamy, Thirunavukkarasu T; Rolland, Delphine D; Sahasrabuddhe, Anagh A AA; Chung, Fuzon F; Bailey, Nathanael G NG; Schrader, Alexandra A; Li, Bo B; Li, Jun Z JZ; Ozel, Ayse B AB; Betz, Bryan L BL; Miranda, Roberto N RN; Medeiros, L Jeffrey LJ; Zhao, Lili L; Herling, Marco M; Lim, Megan S MS; Elenitoba-Johnson, Kojo S J KS
Publication Date: 2014-08-28

Variant appearance in text: ATM: L2877F
PubMed Link: 24825865
Variant Present in the following documents:
  • Main text
View BVdb publication page