ATM c.4777G>T ;(p.E1593*)

Variant ID: 11-108165654-G-T

NM_000051.3(ATM):c.4777G>T;(p.E1593*)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.

Nature Communications
Zoumpoulidou, Georgia G; Alvarez-Mendoza, Carlos C; Mancusi, Caterina C; Ahmed, Ritika-Mahmuda RM; Denman, Milly M; Steele, Christopher D CD; Tarabichi, Maxime M; Roy, Errin E; Davies, Lauren R LR; Manji, Jiten J; Cristalli, Camilla C; Scotlandi, Katia K; Pillay, Nischalan N; Strauss, Sandra J SJ; Mittnacht, Sibylle S
Publication Date: 2021-12-03

Variant appearance in text: ATM: E1593*
PubMed Link: 34862364
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27291.pdf
View BVdb publication page



Therapeutic vulnerability to PARP1,2 inhibition in RB1-mutant osteosarcoma.

Nature Communications
Zoumpoulidou, Georgia G; Alvarez-Mendoza, Carlos C; Mancusi, Caterina C; Ahmed, Ritika-Mahmuda RM; Denman, Milly M; Steele, Christopher D CD; Tarabichi, Maxime M; Roy, Errin E; Davies, Lauren R LR; Manji, Jiten J; Cristalli, Camilla C; Scotlandi, Katia K; Pillay, Nischalan N; Strauss, Sandra J SJ; Mittnacht, Sibylle S
Publication Date: 2021-12-03

Variant appearance in text: ATM: E1593*
PubMed Link: 34862364
Variant Present in the following documents:
  • Main text
  • 41467_2021_Article_27291.pdf
View BVdb publication page



Derivation of Breast Cancer Cell Lines Under Physiological (5%) Oxygen Concentrations.

Frontiers In Oncology
Leung, Euphemia Y EY; Askarian-Amiri, Marjan E ME; Singleton, Dean C DC; Ferraro-Peyret, Carole C; Joseph, Wayne R WR; Finlay, Graeme J GJ; Broom, Reuben J RJ; Kakadia, Purvi M PM; Bohlander, Stefan K SK; Marshall, Elaine E; Baguley, Bruce C BC
Publication Date: 2018

Variant appearance in text: ATM: E1593*
PubMed Link: 30370249
Variant Present in the following documents:
  • fonc-08-00425.pdf
View BVdb publication page



Kinase-dead ATM protein is highly oncogenic and can be preferentially targeted by Topo-isomerase I inhibitors.

Elife
Yamamoto, Kenta K; Wang, Jiguang J; Sprinzen, Lisa L; Xu, Jun J; Haddock, Christopher J CJ; Li, Chen C; Lee, Brian J BJ; Loredan, Denis G DG; Jiang, Wenxia W; Vindigni, Alessandro A; Wang, Dong D; Rabadan, Raul R; Zha, Shan S
Publication Date: 2016-06-15

Variant appearance in text: ATM: 4777G>T; Glu1593*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page