ATM c.5756A>C ;(p.Q1919P)

Variant ID: 11-108178705-A-C

NM_000051.3(ATM):c.5756A>C;(p.Q1919P)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


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: 5756A>C; Q1919P
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 8
View BVdb publication page



Radiopotentiation Profiling of Multiple Inhibitors of the DNA Damage Response for Early Clinical Development.

Molecular Cancer Therapeutics
Gill, Sonja J SJ; Wijnhoven, Paul W G PWG; Fok, Jacqueline H L JHL; Lloyd, Rebecca L RL; Cairns, Jonathan J; Armenia, Joshua J; Nikkilä, Jenni J; Lau, Alan A; Bakkenist, Christopher J CJ; Galbraith, Susan M SM; Vens, Conchita C; O'Connor, Mark J MJ
Publication Date: 2021-09

Variant appearance in text: ATM: Q1919P
PubMed Link: 34158341
Variant Present in the following documents:
  • Main text
  • 1614.pdf
View BVdb publication page



Sensitivity of cells to ATR and CHK1 inhibitors requires hyperactivation of CDK2 rather than endogenous replication stress or ATM dysfunction.

Scientific Reports
Ditano, Jennifer P JP; Donahue, Katelyn L KL; Tafe, Laura J LJ; McCleery, Charlotte F CF; Eastman, Alan A
Publication Date: 2021-03-29

Variant appearance in text: ATM: Q1919P
PubMed Link: 33782497
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_86490.pdf
  • 41598_2021_86490_MOESM1_ESM.pdf
  • 41598_2021_86490_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Combined PARP and ATR inhibition potentiates genome instability and cell death in ATM-deficient cancer cells.

Oncogene
Lloyd, Rebecca L RL; Wijnhoven, Paul W G PWG; Ramos-Montoya, Antonio A; Wilson, Zena Z; Illuzzi, Giuditta G; Falenta, Katarzyna K; Jones, Gemma N GN; James, Neil N; Chabbert, Christophe D CD; Stott, Jonathan J; Dean, Emma E; Lau, Alan A; Young, Lucy A LA
Publication Date: 2020-06

Variant appearance in text: ATM: Q1919P
PubMed Link: 32444694
Variant Present in the following documents:
  • Main text
  • 41388_2020_Article_1328.pdf
View BVdb publication page



False-negative errors in next-generation sequencing contribute substantially to inconsistency of mutation databases.

Plos One
Kim, Young-Ho YH; Song, Yura Y; Kim, Jong-Kwang JK; Kim, Tae-Min TM; Sim, Hye Won HW; Kim, Hyung-Lae HL; Jang, Hyonchol H; Kim, Young-Woo YW; Hong, Kyeong-Man KM
Publication Date: 2019

Variant appearance in text: ATM: 5756A>C; Q1919P
PubMed Link: 31513681
Variant Present in the following documents:
  • pone.0222535.s006.xlsx, sheet 1
View BVdb publication page



pRAD50: a novel and clinically applicable pharmacodynamic biomarker of both ATM and ATR inhibition identified using mass spectrometry and immunohistochemistry.

British Journal Of Cancer
Jones, Gemma N GN; Rooney, Claire C; Griffin, Nicola N; Roudier, Martine M; Young, Lucy A LA; Garcia-Trinidad, Antonio A; Hughes, Gareth D GD; Whiteaker, Jeffrey R JR; Wilson, Zena Z; Odedra, Rajesh R; Zhao, Lei L; Ivey, Richard G RG; Howat, William J WJ; Harrington, Elizabeth A EA; Barrett, J Carl JC; Ramos-Montoya, Antonio A; Lau, Alan A; Paulovich, Amanda G AG; Cadogan, Elaine B EB; Pierce, Andrew J AJ
Publication Date: 2018-11

Variant appearance in text: ATM: Q1919P
PubMed Link: 30385821
Variant Present in the following documents:
  • Main text
  • 41416_2018_Article_286.pdf
View BVdb publication page



MEK inhibitors block growth of lung tumours with mutations in ataxia-telangiectasia mutated.

Nature Communications
Smida, Michal M; Fece de la Cruz, Ferran F; Kerzendorfer, Claudia C; Uras, Iris Z IZ; Mair, Barbara B; Mazouzi, Abdelghani A; Suchankova, Tereza T; Konopka, Tomasz T; Katz, Amanda M AM; Paz, Keren K; Nagy-Bojarszky, Katalin K; Muellner, Markus K MK; Bago-Horvath, Zsuzsanna Z; Haura, Eric B EB; Loizou, Joanna I JI; Nijman, Sebastian M B SM
Publication Date: 2016-12-06

Variant appearance in text: ATM: 5756A>C; Q1919P
PubMed Link: 27922010
Variant Present in the following documents:
  • Main text
  • ncomms13701.pdf
View BVdb publication page



Phenotypic consequences of somatic mutations in the ataxia-telangiectasia mutated gene in non-small cell lung cancer.

Oncotarget
Weber, Anika Maria AM; Drobnitzky, Neele N; Devery, Aoife Maire AM; Bokobza, Sivan Mili SM; Adams, Richard A RA; Maughan, Timothy S TS; Ryan, Anderson Joseph AJ
Publication Date: 2016-09-20

Variant appearance in text: ATM: 5756A>C; Q1919P
PubMed Link: 27602502
Variant Present in the following documents:
  • Main text
  • oncotarget-07-60807.pdf
View BVdb publication page



A Landscape of Pharmacogenomic Interactions in Cancer.

Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ
Publication Date: 2016-07-28

Variant appearance in text: ATM: 5756A>C; Q1919P
PubMed Link: 27397505
Variant Present in the following documents:
  • mmc3.xlsx, sheet 3
View BVdb publication page



The orally active and bioavailable ATR kinase inhibitor AZD6738 potentiates the anti-tumor effects of cisplatin to resolve ATM-deficient non-small cell lung cancer in vivo.

Oncotarget
Vendetti, Frank P FP; Lau, Alan A; Schamus, Sandra S; Conrads, Thomas P TP; O'Connor, Mark J MJ; Bakkenist, Christopher J CJ
Publication Date: 2015-12-29

Variant appearance in text: ATM: Q1919P
PubMed Link: 26517239
Variant Present in the following documents:
  • Main text
  • oncotarget-06-44289.pdf
View BVdb publication page



Kinome sequencing reveals RET G691S polymorphism in human neuroendocrine lung cancer cell lines.

Genes & Genomics
Sosonkina, Nadiya N; Hong, Seung-Keun SK; Starenki, Dmytro D; Park, Jong-In JI
Publication Date: 2014-12

Variant appearance in text: ATM: Q1919P
PubMed Link: 25530832
Variant Present in the following documents:
  • Main text
View BVdb publication page