ATM c.1236G>A ;(p.W412*)

Variant ID: 11-108121428-G-A

NM_000051.3(ATM):c.1236G>A;(p.W412*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Systematic review of reported association studies of monogenic genes and bladder cancer risk and confirmation analysis in a large population cohort.

Bjui Compass
Mian, Abrar A; Wei, Jun J; Shi, Zhuqing Z; Rifkin, Andrew S AS; Zheng, S Lilly SL; Glaser, Alexander P AP; Kearns, James T JT; Helfand, Brian T BT; Xu, Jianfeng J
Publication Date: 2023-03

Variant appearance in text: ATM: W412X
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Proteogenomic analysis of lung adenocarcinoma reveals tumor heterogeneity, survival determinants, and therapeutically relevant pathways.

Cell Reports. Medicine
Soltis, Anthony R AR; Bateman, Nicholas W NW; Liu, Jianfang J; Nguyen, Trinh T; Franks, Teri J TJ; Zhang, Xijun X; Dalgard, Clifton L CL; Viollet, Coralie C; Somiari, Stella S; Yan, Chunhua C; Zeman, Karen K; Skinner, William J WJ; Lee, Jerry S H JSH; Pollard, Harvey B HB; Turner, Clesson C; Petricoin, Emanuel F EF; Meerzaman, Daoud D; Conrads, Thomas P TP; Hu, Hai H; , ; Shriver, Craig D CD; Moskaluk, Christopher A CA; Browning, Robert F RF; Wilkerson, Matthew D MD
Publication Date: 2022-11-15

Variant appearance in text: ATM: W412X
PubMed Link: 36384096
Variant Present in the following documents:
  • mmc2.xls, sheet 2
View BVdb publication page



Genomic profiling reveals heterogeneous populations of ductal carcinoma in situ of the breast.

Communications Biology
Nagasawa, Satoi S; Kuze, Yuta Y; Maeda, Ichiro I; Kojima, Yasuyuki Y; Motoyoshi, Ai A; Onishi, Tatsuya T; Iwatani, Tsuguo T; Yokoe, Takamichi T; Koike, Junki J; Chosokabe, Motohiro M; Kubota, Manabu M; Seino, Hibiki H; Suzuki, Ayako A; Seki, Masahide M; Tsuchihara, Katsuya K; Inoue, Eisuke E; Tsugawa, Koichiro K; Ohta, Tomohiko T; Suzuki, Yutaka Y
Publication Date: 2021-04-01

Variant appearance in text: ATM: W412X
PubMed Link: 33795819
Variant Present in the following documents:
  • 42003_2021_1959_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



In vitro dexamethasone treatment does not induce alternative ATM transcripts in cells from Ataxia-Telangiectasia patients.

Scientific Reports
Pozzi, Elisa E; Giorgio, Elisa E; Mancini, Cecilia C; Lo Buono, Nicola N; Augeri, Stefania S; Ferrero, Marta M; Di Gregorio, Eleonora E; Riberi, Evelise E; Vinciguerra, Maria M; Nanetti, Lorenzo L; Bianchi, Federico Tommaso FT; Sassi, Maria Paola MP; Costanzo, Vincenzo V; Mariotti, Caterina C; Funaro, Ada A; Cavalieri, Simona S; Brusco, Alfredo A
Publication Date: 2020-11-19

Variant appearance in text: ATM: Trp412*
PubMed Link: 33214630
Variant Present in the following documents:
  • 41598_2020_77352_MOESM1_ESM.pdf
View BVdb publication page



The prognostic effects of somatic mutations in ER-positive breast cancer.

Nature Communications
Griffith, Obi L OL; Spies, Nicholas C NC; Anurag, Meenakshi M; Griffith, Malachi M; Luo, Jingqin J; Tu, Dongsheng D; Yeo, Belinda B; Kunisaki, Jason J; Miller, Christopher A CA; Krysiak, Kilannin K; Hundal, Jasreet J; Ainscough, Benjamin J BJ; Skidmore, Zachary L ZL; Campbell, Katie K; Kumar, Runjun R; Fronick, Catrina C; Cook, Lisa L; Snider, Jacqueline E JE; Davies, Sherri S; Kavuri, Shyam M SM; Chang, Eric C EC; Magrini, Vincent V; Larson, David E DE; Fulton, Robert S RS; Liu, Shuzhen S; Leung, Samuel S; Voduc, David D; Bose, Ron R; Dowsett, Mitch M; Wilson, Richard K RK; Nielsen, Torsten O TO; Mardis, Elaine R ER; Ellis, Matthew J MJ
Publication Date: 2018-09-04

Variant appearance in text: ATM: W412*
PubMed Link: 30181556
Variant Present in the following documents:
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 10
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 5
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 12
  • 41467_2018_5914_MOESM12_ESM.xlsx, sheet 1
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 9
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 8
  • 41467_2018_5914_MOESM6_ESM.xlsx, sheet 6
View BVdb publication page



Morphology and genomic hallmarks of breast tumours developed by ATM deleterious variant carriers.

Breast Cancer Research : Bcr
Renault, Anne-Laure AL; Mebirouk, Noura N; Fuhrmann, Laetitia L; Bataillon, Guillaume G; Cavaciuti, Eve E; Le Gal, Dorothée D; Girard, Elodie E; Popova, Tatiana T; La Rosa, Philippe P; Beauvallet, Juana J; Eon-Marchais, Séverine S; Dondon, Marie-Gabrielle MG; d'Enghien, Catherine Dubois CD; Laugé, Anthony A; Chemlali, Walid W; Raynal, Virginie V; Labbé, Martine M; Bièche, Ivan I; Baulande, Sylvain S; Bay, Jacques-Olivier JO; Berthet, Pascaline P; Caron, Olivier O; Buecher, Bruno B; Faivre, Laurence L; Fresnay, Marc M; Gauthier-Villars, Marion M; Gesta, Paul P; Janin, Nicolas N; Lejeune, Sophie S; Maugard, Christine C; Moutton, Sébastien S; Venat-Bouvet, Laurence L; Zattara, Hélène H; Fricker, Jean-Pierre JP; Gladieff, Laurence L; Coupier, Isabelle I; , ; , ; , ; Chenevix-Trench, Georgia G; Hall, Janet J; Vincent-Salomon, Anne A; Stoppa-Lyonnet, Dominique D; Andrieu, Nadine N; Lesueur, Fabienne F
Publication Date: 2018-04-17

Variant appearance in text: ATM: Trp412X
PubMed Link: 29665859
Variant Present in the following documents:
  • Main text
  • 13058_2018_Article_951.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: Trp412*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page