ATM c.3522T>A ;(p.F1174L)

Variant ID: 11-108151841-T-A

NM_000051.3(ATM):c.3522T>A;(p.F1174L)

This variant was identified in 4 publications

View GRCh38 version.




Publications:


Plasma ctDNA increases tissue NGS-based detection of therapeutically targetable mutations in lung cancers.

Bmc Cancer
Xie, Jianjiang J; Yao, Weishen W; Chen, Lingxiu L; Zhu, Wenjun W; Liu, Qiang Q; Geng, Geng G; Fang, Jing J; Zhao, Yang Y; Xiao, Li L; Huang, Zhenhua Z; Zhao, Jing J
Publication Date: 2023-03-31

Variant appearance in text: ATM: Phe1174Leu
PubMed Link: 37004022
Variant Present in the following documents:
  • 12885_2023_Article_10674.pdf
View BVdb publication page



Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.

Plos One
Aoyagi, Yasuko Y; Kano, Yoshihito Y; Tohyama, Kohki K; Matsudera, Shotaro S; Kumaki, Yuichi Y; Takahashi, Kenta K; Mitsumura, Takahiro T; Harada, Yohei Y; Sato, Akemi A; Nakamura, Hideaki H; Sueoka, Eisaburo E; Aragane, Naoko N; Kimura, Koichiro K; Onishi, Iichiro I; Takemoto, Akira A; Akahoshi, Keiichi K; Ono, Hiroaki H; Ishikawa, Toshiaki T; Tokunaga, Masanori M; Nakagawa, Tsuyoshi T; Oshima, Noriko N; Nakamura, Reiko R; Takagi, Masatoshi M; Asakage, Takahiro T; Uetake, Hiroyuki H; Tanabe, Minoru M; Miyake, Satoshi S; Kinugasa, Yusuke Y; Ikeda, Sadakatsu S
Publication Date: 2022

Variant appearance in text: ATM: F1174L
PubMed Link: 35358259
Variant Present in the following documents:
  • pone.0266112.s001.xlsx, sheet 1
View BVdb publication page



Spatial and temporal intratumour heterogeneity has potential consequences for single biopsy-based neuroblastoma treatment decisions.

Nature Communications
Schmelz, Karin K; Toedling, Joern J; Huska, Matt M; Cwikla, Maja C MC; Kruetzfeldt, Louisa-Marie LM; Proba, Jutta J; Ambros, Peter F PF; Ambros, Inge M IM; Boral, Sengül S; Lodrini, Marco M; Chen, Celine Y CY; Burkert, Martin M; Guergen, Dennis D; Szymansky, Annabell A; Astrahantseff, Kathy K; Kuenkele, Annette A; Haase, Kerstin K; Fischer, Matthias M; Deubzer, Hedwig E HE; Hertwig, Falk F; Hundsdoerfer, Patrick P; Henssen, Anton G AG; Schwarz, Roland F RF; Schulte, Johannes H JH; Eggert, Angelika A
Publication Date: 2021-11-23

Variant appearance in text: ATM: F1174L
PubMed Link: 34815394
Variant Present in the following documents:
  • 41467_2021_Article_26870.pdf
  • 41467_2021_26870_MOESM1_ESM.pdf
View BVdb publication page



Targeting the spliceosome through RBM39 degradation results in exceptional responses in high-risk neuroblastoma models.

Science Advances
Singh, Shivendra S; Quarni, Waise W; Goralski, Maria M; Wan, Shibiao S; Jin, Hongjian H; Van de Velde, Lee-Ann LA; Fang, Jie J; Wu, Qiong Q; Abu-Zaid, Ahmed A; Wang, Tingting T; Singh, Ravi R; Craft, David D; Fan, Yiping Y; Confer, Thomas T; Johnson, Melissa M; Akers, Walter J WJ; Wang, Ruoning R; Murray, Peter J PJ; Thomas, Paul G PG; Nijhawan, Deepak D; Davidoff, Andrew M AM; Yang, Jun J
Publication Date: 2021-11-19

Variant appearance in text: ATM: F1174L
PubMed Link: 34788094
Variant Present in the following documents:
  • Main text
View BVdb publication page