ATM c.1924G>T ;(p.E642*)

Variant ID: 11-108124566-G-T

NM_000051.3(ATM):c.1924G>T;(p.E642*)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Tracking early lung cancer metastatic dissemination in TRACERx using ctDNA.

Nature
Abbosh, Christopher C; Frankell, Alexander M AM; Harrison, Thomas T; Kisistok, Judit J; Garnett, Aaron A; Johnson, Laura L; Veeriah, Selvaraju S; Moreau, Mike M; Chesh, Adrian A; Chaunzwa, Tafadzwa L TL; Weiss, Jakob J; Schroeder, Morgan R MR; Ward, Sophia S; Grigoriadis, Kristiana K; Shahpurwalla, Aamir A; Litchfield, Kevin K; Puttick, Clare C; Biswas, Dhruva D; Karasaki, Takahiro T; Black, James R M JRM; Martínez-Ruiz, Carlos C; Bakir, Maise Al MA; Pich, Oriol O; Watkins, Thomas B K TBK; Lim, Emilia L EL; Huebner, Ariana A; Moore, David A DA; Godin-Heymann, Nadia N; L'Hernault, Anne A; Bye, Hannah H; Odell, Aaron A; Roberts, Paula P; Gomes, Fabio F; Patel, Akshay J AJ; Manzano, Elizabeth E; Hiley, Crispin T CT; Carey, Nicolas N; Riley, Joan J; Cook, Daniel E DE; Hodgson, Darren D; Stetson, Daniel D; Barrett, J Carl JC; Kortlever, Roderik M RM; Evan, Gerard I GI; Hackshaw, Allan A; Daber, Robert D RD; Shaw, Jacqui A JA; Aerts, Hugo J W L HJWL; Licon, Abel A; Stahl, Josh J; Jamal-Hanjani, Mariam M; , ; Birkbak, Nicolai J NJ; McGranahan, Nicholas N; Swanton, Charles C
Publication Date: 2023-04-13

Variant appearance in text: ATM: E642X
PubMed Link: 37055640
Variant Present in the following documents:
  • EMS176197-supplement-Supplementary_Table_1.xlsx, sheet 18
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: ATM: 1924G>T; Glu642Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



BMX kinase mediates gilteritinib resistance in FLT3-mutated AML through microenvironmental factors.

Blood Advances
Buelow, Daelynn R DR; Bhatnagar, Bhavana B; Orwick, Shelley J SJ; Jeon, Jae Yoon JY; Eisenmann, Eric D ED; Stromatt, Jack C JC; Pabla, Navjot Singh NS; Blachly, James S JS; Baker, Sharyn D SD; Blaser, Bradley W BW
Publication Date: 2022-09-13

Variant appearance in text: ATM: Glu642*
PubMed Link: 35797240
Variant Present in the following documents:
  • advancesADV2022007952-suppl2.xlsx, sheet 4
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: ATM: 1924G>T; Glu642*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Patient-derived xenograft models capture genomic heterogeneity in endometrial cancer.

Genome Medicine
Bonazzi, Vanessa F VF; Kondrashova, Olga O; Smith, Deborah D; Nones, Katia K; Sengal, Asmerom T AT; Ju, Robert R; Packer, Leisl M LM; Koufariotis, Lambros T LT; Kazakoff, Stephen H SH; Davidson, Aimee L AL; Ramarao-Milne, Priya P; Lakis, Vanessa V; Newell, Felicity F; Rogers, Rebecca R; Davies, Claire C; Nicklin, James J; Garrett, Andrea A; Chetty, Naven N; Perrin, Lewis L; Pearson, John V JV; Patch, Ann-Marie AM; Waddell, Nicola N; Pollock, Pamela M PM
Publication Date: 2022-01-10

Variant appearance in text: ATM: 1924G>T; Glu642*
PubMed Link: 35012638
Variant Present in the following documents:
  • 13073_2021_990_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Postoperative circulating tumor DNA as markers of recurrence risk in stages II to III colorectal cancer.

Journal Of Hematology & Oncology
Chen, Gong G; Peng, Junjie J; Xiao, Qian Q; Wu, Hao-Xiang HX; Wu, Xiaojun X; Wang, Fulong F; Li, Liren L; Ding, Peirong P; Zhao, Qi Q; Li, Yaqi Y; Wang, Da D; Shao, Yang Y; Bao, Hua H; Pan, Zhizhong Z; Ding, Ke-Feng KF; Cai, Sanjun S; Wang, Feng F; Xu, Rui-Hua RH
Publication Date: 2021-05-17

Variant appearance in text: ATM: E642*
PubMed Link: 34001194
Variant Present in the following documents:
  • 13045_2021_1089_MOESM6_ESM.xlsx, sheet 1
View BVdb publication page



Precision medicine integrating whole-genome sequencing, comprehensive metabolomics, and advanced imaging.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hou, Ying-Chen Claire YC; Yu, Hung-Chun HC; Martin, Rick R; Cirulli, Elizabeth T ET; Schenker-Ahmed, Natalie M NM; Hicks, Michael M; Cohen, Isaac V IV; Jönsson, Thomas J TJ; Heister, Robyn R; Napier, Lori L; Swisher, Christine Leon CL; Dominguez, Saints S; Tang, Haibao H; Li, Weizhong W; Perkins, Bradley A BA; Barea, Jaime J; Rybak, Christina C; Smith, Emily E; Duchicela, Keegan K; Doney, Michael M; Brar, Pamila P; Hernandez, Nathaniel N; Kirkness, Ewen F EF; Kahn, Andrew M AM; Venter, J Craig JC; Karow, David S DS; Caskey, C Thomas CT
Publication Date: 2020-02-11

Variant appearance in text: ATM: 1924G>T; Glu642*
PubMed Link: 31980526
Variant Present in the following documents:
  • pnas.1909378117.sd01.xlsx, sheet 1
View BVdb publication page



Rare variants in the ATM gene and risk of breast cancer.

Breast Cancer Research : Bcr
Goldgar, David E DE; Healey, Sue S; Dowty, James G JG; Da Silva, Leonard L; Chen, Xiaoqing X; Spurdle, Amanda B AB; Terry, Mary Beth MB; Daly, Mary J MJ; Buys, Saundra M SM; Southey, Melissa C MC; Andrulis, Irene I; John, Esther M EM; , ; , ; Khanna, Kum Kum KK; Hopper, John L JL; Oefner, Peter J PJ; Lakhani, Sunil S; Chenevix-Trench, Georgia G
Publication Date: 2011-07-25

Variant appearance in text: ATM: 1924G>T
PubMed Link: 21787400
Variant Present in the following documents:
  • Main text
  • bcr2919.pdf
View BVdb publication page