ATM c.5818G>T ;(p.E1940*)

Variant ID: 11-108180942-G-T

NM_000051.3(ATM):c.5818G>T;(p.E1940*)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.

Cancer Medicine
Sivapiragasam, Abirami A; Ashok Kumar, Prashanth P; Sokol, Ethan S ES; Albacker, Lee A LA; Killian, Jonathan K JK; Ramkissoon, Shakti H SH; Huang, Richard S P RSP; Severson, Eric A EA; Brown, Charlotte A CA; Danziger, Natalie N; McGregor, Kimberly K; Ross, Jeffrey S JS
Publication Date: 2021-01

Variant appearance in text: ATM: E1940*
PubMed Link: 33314633
Variant Present in the following documents:
  • CAM4-10-53-s004.xlsx, sheet 1
View BVdb publication page



An extensive molecular cytogenetic characterization in high-risk chronic lymphocytic leukemia identifies karyotype aberrations and TP53 disruption as predictors of outcome and chemorefractoriness.

Oncotarget
Rigolin, Gian Matteo GM; Formigaro, Luca L; Cavallari, Maurizio M; Quaglia, Francesca Maria FM; Lista, Enrico E; Urso, Antonio A; Guardalben, Emanuele E; Martinelli, Sara S; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Negrini, Massimo M; Cavazzini, Francesco F; Cuneo, Antonio A
Publication Date: 2017-04-25

Variant appearance in text: ATM: E1940X
PubMed Link: 28427204
Variant Present in the following documents:
  • oncotarget-08-28008-s003.xlsx, sheet 1
View BVdb publication page



Extensive next-generation sequencing analysis in chronic lymphocytic leukemia at diagnosis: clinical and biological correlations.

Journal Of Hematology & Oncology
Rigolin, Gian Matteo GM; Saccenti, Elena E; Bassi, Cristian C; Lupini, Laura L; Quaglia, Francesca Maria FM; Cavallari, Maurizio M; Martinelli, Sara S; Formigaro, Luca L; Lista, Enrico E; Bardi, Maria Antonella MA; Volta, Eleonora E; Tammiso, Elisa E; Melandri, Aurora A; Urso, Antonio A; Cavazzini, Francesco F; Negrini, Massimo M; Cuneo, Antonio A
Publication Date: 2016-09-15

Variant appearance in text: ATM: E1940X
PubMed Link: 27633522
Variant Present in the following documents:
  • 13045_2016_320_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



The p53 transcriptional pathway is preserved in ATMmutated and NOTCH1mutated chronic lymphocytic leukemias.

Oncotarget
Athanasakis, Emmanouil E; Melloni, Elisabetta E; Rigolin, Gian Matteo GM; Agnoletto, Chiara C; Voltan, Rebecca R; Vozzi, Diego D; Piscianz, Elisa E; Segat, Ludovica L; Dal Monego, Simeone S; Cuneo, Antonio A; Secchiero, Paola P; Zauli, Giorgio G
Publication Date: 2014-12-30

Variant appearance in text: ATM: 5818G>T; Glu1940*
PubMed Link: 25587027
Variant Present in the following documents:
  • Main text
  • oncotarget-05-12635.pdf
View BVdb publication page