ATM c.610G>T ;(p.G204*)

Variant ID: 11-108114793-G-T

NM_000051.3(ATM):c.610G>T;(p.G204*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Efficacy and clinicogenomic correlates of response to immune checkpoint inhibitors alone or with chemotherapy in non-small cell lung cancer.

Nature Communications
Hong, Lingzhi L; Aminu, Muhammad M; Li, Shenduo S; Lu, Xuetao X; Petranovic, Milena M; Saad, Maliazurina B MB; Chen, Pingjun P; Qin, Kang K; Varghese, Susan S; Rinsurongkawong, Waree W; Rinsurongkawong, Vadeerat V; Spelman, Amy A; Elamin, Yasir Y YY; Negrao, Marcelo V MV; Skoulidis, Ferdinandos F; Gay, Carl M CM; Cascone, Tina T; Gandhi, Saumil J SJ; Lin, Steven H SH; Lee, Percy P PP; Carter, Brett W BW; Wu, Carol C CC; Antonoff, Mara B MB; Sepesi, Boris B; Lewis, Jeff J; Gibbons, Don L DL; Vaporciyan, Ara A AA; Le, Xiuning X; Jack Lee, J J; Roy-Chowdhuri, Sinchita S; Routbort, Mark J MJ; Gainor, Justin F JF; Heymach, John V JV; Lou, Yanyan Y; Wu, Jia J; Zhang, Jianjun J; Vokes, Natalie I NI
Publication Date: 2023-02-08

Variant appearance in text: ATM: 610G>T; G204*
PubMed Link: 36755027
Variant Present in the following documents:
  • 41467_2023_36328_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes.

Frontiers In Oncology
Schwartz, Alison A; Manning, Danielle K DK; Koeller, Diane R DR; Chittenden, Anu A; Isidro, Raymond A RA; Hayes, Connor P CP; Abraamyan, Feruza F; Manam, Monica Devi MD; Dwan, Meaghan M; Barletta, Justine A JA; Sholl, Lynette M LM; Yurgelun, Matthew B MB; Rana, Huma Q HQ; Garber, Judy E JE; Ghazani, Arezou A AA
Publication Date: 2022

Variant appearance in text: rs147915571
PubMed Link: 36091175
Variant Present in the following documents:
  • Table_3.xlsx, sheet 1
View BVdb publication page



Germline Profiling and Molecular Characterization of Early Onset Metastatic Colorectal Cancer.

Frontiers In Oncology
Xu, Ting T; Zhang, Yinjie Y; Zhang, Jing J; Qi, Changsong C; Liu, Dan D; Wang, Zhenghang Z; Li, Yanyan Y; Ji, Congcong C; Li, Jian J; Lin, Xuan X; Hou, Ting T; Liu, Hao H; Zhang, Lu L; Han-Zhang, Han H; Shen, Lin L; Wang, Xicheng X
Publication Date: 2020

Variant appearance in text: ATM: G204*
PubMed Link: 33194656
Variant Present in the following documents:
  • fonc-10-568911.pdf
View BVdb publication page



Identification of targeted therapy options for gastric adenocarcinoma by comprehensive analysis of genomic data.

Gastric Cancer : Official Journal Of The International Gastric Cancer Association And The Japanese Gastric Cancer Association
Hescheler, Daniel A DA; Plum, Patrick S PS; Zander, Thomas T; Quaas, Alexander A; Korenkov, Michael M; Gassa, Asmae A; Michel, Maximilian M; Bruns, Christiane J CJ; Alakus, Hakan H
Publication Date: 2020-07

Variant appearance in text: ATM: G204*
PubMed Link: 32107691
Variant Present in the following documents:
  • 10120_2020_1045_MOESM1_ESM.xlsx, sheet 2
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: 610G>T; Gly204*
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 2
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Age-related mutations associated with clonal hematopoietic expansion and malignancies.

Nature Medicine
Xie, Mingchao M; Lu, Charles C; Wang, Jiayin J; McLellan, Michael D MD; Johnson, Kimberly J KJ; Wendl, Michael C MC; McMichael, Joshua F JF; Schmidt, Heather K HK; Yellapantula, Venkata V; Miller, Christopher A CA; Ozenberger, Bradley A BA; Welch, John S JS; Link, Daniel C DC; Walter, Matthew J MJ; Mardis, Elaine R ER; Dipersio, John F JF; Chen, Feng F; Wilson, Richard K RK; Ley, Timothy J TJ; Ding, Li L
Publication Date: 2014-12

Variant appearance in text: ATM: G204*
PubMed Link: 25326804
Variant Present in the following documents:
  • NIHMS630249-supplement-5.xlsx, sheet 1
View BVdb publication page



Twelve novel Atm mutations identified in Chinese ataxia telangiectasia patients.

Neuromolecular Medicine
Huang, Yu Y; Yang, Lu L; Wang, Jianchun J; Yang, Fan F; Xiao, Ying Y; Xia, Rongjun R; Yuan, Xianhou X; Yan, Mingshan M
Publication Date: 2013-09

Variant appearance in text: ATM: 610G>T
PubMed Link: 23807571
Variant Present in the following documents:
  • Main text
View BVdb publication page