ATM c.2574T>A ;(p.F858L)

Variant ID: 11-108138005-T-A

NM_000051.3(ATM):c.2574T>A;(p.F858L)

This variant was identified in 27 publications

View GRCh38 version.




Publications:


Identification of antigenic epitopes recognized by tumor infiltrating lymphocytes in high grade serous ovarian cancer by multi-omics profiling of the auto-antigen repertoire.

Cancer Immunology, Immunotherapy : Cii
Millar, Douglas G DG; Yang, S Y Cindy SYC; Sayad, Azin A; Zhao, Qingchuan Q; Nguyen, Linh T LT; Warner, Kathrin K; Sangster, Ami G AG; Nakatsugawa, Munehide M; Murata, Kenji K; Wang, Ben X BX; Shaw, Patricia P; Clarke, Blaise B; Bernardini, Marcus Q MQ; Pugh, Trevor T; Thibault, Pierre P; Hirano, Naoto N; Perreault, Claude C; Ohashi, Pamela S PS
Publication Date: 2023-03-21

Variant appearance in text: ATM: F858L
PubMed Link: 36943460
Variant Present in the following documents:
  • 262_2023_3413_MOESM1_ESM.pdf
View BVdb publication page



A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
Publication Date: 2023-03-16

Variant appearance in text: ATM: F858L
PubMed Link: 36928921
Variant Present in the following documents:
  • ccr-22-3642_supplementary_tables_1_suppts1.xlsx, sheet 3
View BVdb publication page



Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.

Frontiers In Genetics
Keskin Karakoyun, Hilal H; Yüksel, Şirin K ŞK; Amanoglu, Ilayda I; Naserikhojasteh, Lara L; Yeşilyurt, Ahmet A; Yakıcıer, Cengiz C; Timuçin, Emel E; Akyerli, Cemaliye B CB
Publication Date: 2023

Variant appearance in text: ATM: F858L
PubMed Link: 36896237
Variant Present in the following documents:
  • Table1.xlsx, sheet 1
View BVdb publication page



Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer.

Frontiers In Oncology
Yu, Haipeng H; Xu, Yan Y; Gao, Wei W; Li, Mei M; He, Ji'an J; Deng, Xiaoqian X; Xing, Wenge W
Publication Date: 2022

Variant appearance in text: ATM: F858L
PubMed Link: 36072793
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis.

Nature Genetics
Kar, Siddhartha P SP; Quiros, Pedro M PM; Gu, Muxin M; Jiang, Tao T; Mitchell, Jonathan J; Langdon, Ryan R; Iyer, Vivek V; Barcena, Clea C; Vijayabaskar, M S MS; Fabre, Margarete A MA; Carter, Paul P; Petrovski, Slavé S; Burgess, Stephen S; Vassiliou, George S GS
Publication Date: 2022-08

Variant appearance in text: ATM: F858L
PubMed Link: 35835912
Variant Present in the following documents:
  • 41588_2022_1121_MOESM3_ESM.xlsx, sheet 4
View BVdb publication page



Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.

Molecular Oncology
Cani, Andi K AK; Dolce, Emily M EM; Darga, Elizabeth P EP; Hu, Kevin K; Liu, Chia-Jen CJ; Pierce, Jackie J; Bradbury, Kieran K; Kilgour, Elaine E; Aung, Kimberly K; Schiavon, Gaia G; Carroll, Danielle D; Carr, T Hedley TH; Klinowska, Teresa T; Lindemann, Justin J; Marshall, Gayle G; Rowlands, Vicky V; Harrington, Elizabeth A EA; Barrett, J Carl JC; Sathiyayogan, Nitharsan N; Morrow, Christopher C; Sero, Valeria V; Armstrong, Anne C AC; Baird, Richard R; Hamilton, Erika E; Im, Seock-Ah SA; Jhaveri, Komal K; Patel, Manish R MR; Dive, Caroline C; Tomlins, Scott A SA; Udager, Aaron M AM; Hayes, Daniel F DF; Paoletti, Costanza C
Publication Date: 2022-05

Variant appearance in text: ATM: F858L
PubMed Link: 34866317
Variant Present in the following documents:
  • MOL2-16-1969.pdf
View BVdb publication page



Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.

Thoracic Cancer
Asselta, Rosanna R; Di Tommaso, Luca L; Perrino, Matteo M; Destro, Annarita A; Giordano, Laura L; Cardamone, Giulia G; Rubino, Luca L; Santoro, Armando A; Duga, Stefano S; Zucali, Paolo Andrea PA
Publication Date: 2021-05

Variant appearance in text: ATM: Phe858Leu
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271.pdf
View BVdb publication page



The association between ATM variants and risk of breast cancer: a systematic review and meta-analysis.

Bmc Cancer
Moslemi, Masoumeh M; Moradi, Yousef Y; Dehghanbanadaki, Hojat H; Afkhami, Hamed H; Khaledi, Mansoor M; Sedighimehr, Najmeh N; Fathi, Javad J; Sohrabi, Ehsan E
Publication Date: 2021-01-05

Variant appearance in text: ATM: F858L
PubMed Link: 33402103
Variant Present in the following documents:
  • Main text
  • 12885_2020_Article_7749.pdf
View BVdb publication page



Molecular genomic features associated with in vitro response of the NCI-60 cancer cell line panel to natural products.

Molecular Oncology
Krushkal, Julia J; Negi, Simarjeet S; Yee, Laura M LM; Evans, Jason R JR; Grkovic, Tanja T; Palmisano, Alida A; Fang, Jianwen J; Sankaran, Hari H; McShane, Lisa M LM; Zhao, Yingdong Y; O'Keefe, Barry R BR
Publication Date: 2021-02

Variant appearance in text: ATM: F858L
PubMed Link: 33169510
Variant Present in the following documents:
  • MOL2-15-381-s009.xlsx, sheet 1
View BVdb publication page



Acute Radiation Colitis after Preoperative Short-Course Radiotherapy for Rectal Cancer: A Morphological, Immunohistochemical and Genetic Study.

Cancers
Zanelli, Magda M; Ciarrocchi, Alessia A; De Petris, Giovanni G; Zizzo, Maurizio M; Costantini, Massimo M; Bisagni, Alessandra A; Torricelli, Federica F; Nicoli, Davide D; Ramundo, Dafne D; Ricci, Stefano S; Palicelli, Andrea A; Sanguedolce, Francesca F; Ascani, Stefano S; Castro Ruiz, Carolina C; Annessi, Valerio V; Zamponi, Raffaella R; Bortesi, Mara M; Martino, Veronica V; Marchetti, Marialisa M; De Marco, Loredana L
Publication Date: 2020-09-09

Variant appearance in text: ATM: Phe858Leu
PubMed Link: 32917028
Variant Present in the following documents:
  • cancers-12-02571-s001.pdf
View BVdb publication page



TRF2 and VEGF-A: an unknown relationship with prognostic impact on survival of colorectal cancer patients.

Journal Of Experimental & Clinical Cancer Research : Cr
Dinami, Roberto R; Porru, Manuela M; Amoreo, Carla Azzurra CA; Sperduti, Isabella I; Mottolese, Marcella M; Buglioni, Simonetta S; Marinelli, Daniele D; Maugeri-Saccà, Marcello M; Sacconi, Andrea A; Blandino, Giovanni G; Leonetti, Carlo C; Di Rocco, Giuliana G; Verdina, Alessandra A; Spinella, Francesca F; Fiorentino, Francesco F; Ciliberto, Gennaro G; Biroccio, Annamaria A; Zizza, Pasquale P
Publication Date: 2020-06-15

Variant appearance in text: ATM: F858L
PubMed Link: 32539869
Variant Present in the following documents:
  • 13046_2020_1612_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



NF1 patient missense variants predict a role for ATM in modifying neurofibroma initiation.

Acta Neuropathologica
Yu, Yanan Y; Choi, Kwangmin K; Wu, Jianqiang J; Andreassen, Paul R PR; Dexheimer, Phillip J PJ; Keddache, Mehdi M; Brems, Hilde H; Spinner, Robert J RJ; Cancelas, Jose A JA; Martin, Lisa J LJ; Wallace, Margaret R MR; Legius, Eric E; Vogel, Kristine S KS; Ratner, Nancy N
Publication Date: 2020-01

Variant appearance in text: ATM: F858L
PubMed Link: 31664505
Variant Present in the following documents:
  • Main text
View BVdb publication page



Serial patient-derived orthotopic xenografting of adenoid cystic carcinomas recapitulates stable expression of phenotypic alterations and innervation.

Ebiomedicine
Cornett, Ashley A; Athwal, Harleen K HK; Hill, Emily E; Murphy, George G; Yeoh, Kenji K; Moskaluk, Christopher A CA; Witt, Robert L RL; D'Silva, Nisha J NJ; Agarwal, Seema S; Lombaert, Isabelle M A IMA
Publication Date: 2019-03

Variant appearance in text: ATM: F858L
PubMed Link: 30765319
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



KRAS mutation is predictive of outcome in patients with pulmonary sarcomatoid carcinoma.

Histopathology
Mehrad, Mitra M; Roy, Somak S; LaFramboise, William A WA; Petrosko, Patti P; Miller, Caitlyn C; Incharoen, Pimpin P; Dacic, Sanja S
Publication Date: 2018-08

Variant appearance in text: ATM: F858L
PubMed Link: 29489023
Variant Present in the following documents:
  • Main text
View BVdb publication page



Optimized creation of glioblastoma patient derived xenografts for use in preclinical studies.

Journal Of Translational Medicine
William, Doreen D; Mullins, Christina Susanne CS; Schneider, Björn B; Orthmann, Andrea A; Lamp, Nora N; Krohn, Mathias M; Hoffmann, Annika A; Classen, Carl-Friedrich CF; Linnebacher, Michael M
Publication Date: 2017-02-09

Variant appearance in text: ATM: F858L
PubMed Link: 28183348
Variant Present in the following documents:
  • Main text
View BVdb publication page



Towards standardization of next-generation sequencing of FFPE samples for clinical oncology: intrinsic obstacles and possible solutions.

Journal Of Translational Medicine
Ivanov, Maxim M; Laktionov, Konstantin K; Breder, Valery V; Chernenko, Polina P; Novikova, Ekaterina E; Telysheva, Ekaterina E; Musienko, Sergey S; Baranova, Ancha A; Mileyko, Vladislav V
Publication Date: 2017-01-31

Variant appearance in text: ATM: Phe858Leu
PubMed Link: 28137276
Variant Present in the following documents:
  • Main text
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: F858L
PubMed Link: 27922010
Variant Present in the following documents:
  • ncomms13701.pdf
  • ncomms13701-s4.pdf
View BVdb publication page



Clinical significance of frequent somatic mutations detected by high-throughput targeted sequencing in archived colorectal cancer samples.

Journal Of Translational Medicine
Dallol, Ashraf A; Buhmeida, Abdelbaset A; Al-Ahwal, Mahmoud Shaheen MS; Al-Maghrabi, Jaudah J; Bajouh, Osama O; Al-Khayyat, Shadi S; Alam, Rania R; Abusanad, Atlal A; Turki, Rola R; Elaimi, Aisha A; Alhadrami, Hani A HA; Abuzenadah, Mohammed M; Banni, Huda H; Al-Qahtani, Mohammed H MH; Abuzenadah, Adel M AM
Publication Date: 2016-05-04

Variant appearance in text: ATM: Phe858Leu
PubMed Link: 27146902
Variant Present in the following documents:
  • Main text
  • 12967_2016_Article_878.pdf
View BVdb publication page



Validation and utilisation of high-coverage next-generation sequencing to deliver the pharmacological audit trail.

British Journal Of Cancer
Ong, M M; Carreira, S S; Goodall, J J; Mateo, J J; Figueiredo, I I; Rodrigues, D N DN; Perkins, G G; Seed, G G; Yap, T A TA; Attard, G G; de Bono, J S JS
Publication Date: 2014-08-26

Variant appearance in text: ATM: F858L
PubMed Link: 24983367
Variant Present in the following documents:
  • bjc2014350a.pdf
View BVdb publication page



Integrated analysis of germline and somatic variants in ovarian cancer.

Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L
Publication Date: 2014

Variant appearance in text: ATM: F858L
PubMed Link: 24448499
Variant Present in the following documents:
  • NIHMS551112-supplement-9.xlsx, sheet 1
View BVdb publication page



Identification of nine genomic regions of amplification in urothelial carcinoma, correlation with stage, and potential prognostic and therapeutic value.

Plos One
Chekaluk, Yvonne Y; Wu, Chin-Lee CL; Rosenberg, Jonathan J; Riester, Markus M; Dai, Qishan Q; Lin, Sharron S; Guo, Yanan Y; McDougal, W Scott WS; Kwiatkowski, David J DJ
Publication Date: 2013

Variant appearance in text: ATM: F858L
PubMed Link: 23593348
Variant Present in the following documents:
  • Main text
  • pone.0060927.pdf
View BVdb publication page



Low expression levels of ATM may substitute for CHEK2 /TP53 mutations predicting resistance towards anthracycline and mitomycin chemotherapy in breast cancer.

Breast Cancer Research : Bcr
Knappskog, Stian S; Chrisanthar, Ranjan R; Løkkevik, Erik E; Anker, Gun G; Østenstad, Bjørn B; Lundgren, Steinar S; Risberg, Terje T; Mjaaland, Ingvil I; Leirvaag, Beryl B; Miletic, Hrvoje H; Lønning, Per E PE
Publication Date: 2012-03-15

Variant appearance in text: ATM: Phe858Leu
PubMed Link: 22420423
Variant Present in the following documents:
  • bcr3147.pdf
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: ATM: F858L
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Inherited predisposition to chronic lymphocytic leukemia.

Expert Review Of Hematology
Brown, Jennifer R JR
Publication Date: 2008-10

Variant appearance in text: ATM: F858L
PubMed Link: 19802369
Variant Present in the following documents:
  • Main text
View BVdb publication page



ATM polymorphisms as risk factors for prostate cancer development.

British Journal Of Cancer
Angèle, S S; Falconer, A A; Edwards, S M SM; Dörk, T T; Bremer, M M; Moullan, N N; Chapot, B B; Muir, K K; Houlston, R R; Norman, A R AR; Bullock, S S; Hope, Q Q; Meitz, J J; Dearnaley, D D; Dowe, A A; Southgate, C C; Ardern-Jones, A A; Easton, D F DF; Eeles, R A RA; Hall, J J
Publication Date: 2004-08-16

Variant appearance in text: ATM: F858L
PubMed Link: 15280931
Variant Present in the following documents:
  • Main text
  • 91-6602007a.pdf
View BVdb publication page



Oligonucleotide microarrays demonstrate the highest frequency of ATM mutations in the mantle cell subtype of lymphoma.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Fang, Nicole Y NY; Greiner, Timothy C TC; Weisenburger, Dennis D DD; Chan, Wing C WC; Vose, Julie M JM; Smith, Lynette M LM; Armitage, James O JO; Mayer, R Aeryn RA; Pike, Brian L BL; Collins, Francis S FS; Hacia, Joseph G JG
Publication Date: 2003-04-29

Variant appearance in text: ATM: F858L
PubMed Link: 12697903
Variant Present in the following documents:
  • Main text
View BVdb publication page