ATM c.8175T>A ;(p.D2725E)

Variant ID: 11-108206595-T-A

NM_000051.3(ATM):c.8175T>A;(p.D2725E)

This variant was identified in 6 publications

View GRCh38 version.




Publications:


Genetic aberrations in Chinese pancreatic cancer patients and their association with anatomic location and disease outcomes.

Cancer Medicine
Lu, Junliang J; Yu, Ruoying R; Liu, Rui R; Liang, Xiaolong X; Sun, Jian J; Zhang, Hui H; Wu, Huanwen H; Zhang, Zhiwen Z; Shao, Yang W YW; Guo, Junchao J; Liang, Zhiyong Z
Publication Date: 2021-02

Variant appearance in text: ATM: D2725E
PubMed Link: 33350171
Variant Present in the following documents:
  • CAM4-10-933-s001.xlsx, sheet 1
View BVdb publication page



Molecular matching and treatment strategies for advanced stage lung cancer at Dartmouth-Hitchcock Medical Center: A three-year review of a Molecular Tumor Board.

Practical Laboratory Medicine
Bernhardt, Erica B EB; Chamberlin, Mary D MD; Gorlov, Ivan P IP; de Abreu, Francine B FB; Bloch, Katarzyna J KJ; Peterson, Jason D JD; Tsongalis, Gregory J GJ; Shirai, Keisuke K; Dragnev, Konstantin H KH; Miller, Todd W TW; Tafe, Laura J LJ
Publication Date: 2020-08

Variant appearance in text: ATM: D2725E
PubMed Link: 32613070
Variant Present in the following documents:
  • Main text
  • main.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: D2725E
PubMed Link: 29449575
Variant Present in the following documents:
  • 41467_2017_2688_MOESM14_ESM.xls, sheet 3
View BVdb publication page



A Low Frequency of Losses in 11q Chromosome Is Associated with Better Outcome and Lower Rate of Genomic Mutations in Patients with Chronic Lymphocytic Leukemia.

Plos One
Hernández, José Ángel JÁ; Hernández-Sánchez, María M; Rodríguez-Vicente, Ana Eugenia AE; Grossmann, Vera V; Collado, Rosa R; Heras, Cecilia C; Puiggros, Anna A; Martín, Ana África AÁ; Puig, Noemí N; Benito, Rocío R; Robledo, Cristina C; Delgado, Julio J; González, Teresa T; Queizán, José Antonio JA; Galende, Josefina J; de la Fuente, Ignacio I; Martín-Núñez, Guillermo G; Alonso, José María JM; Abrisqueta, Pau P; Luño, Elisa E; Marugán, Isabel I; González-Gascón, Isabel I; Bosch, Francesc F; Kohlmann, Alexander A; González, Marcos M; Espinet, Blanca B; Hernández-Rivas, Jesús María JM; ,
Publication Date: 2015

Variant appearance in text: ATM: 8175T>A; Asp2725Glu
PubMed Link: 26630574
Variant Present in the following documents:
  • Main text
  • pone.0143073.pdf
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: ATM: 8175T>A; D2725E
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
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: D2725E
PubMed Link: 24825865
Variant Present in the following documents:
  • Main text
View BVdb publication page