ATM c.2284_2285del ;(p.L762Vfs*2)

Variant ID: 11-108128238-ACT-A

NM_000051.3(ATM):c.2284_2285del;(p.L762Vfs*2)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Whole-exome Sequencing of Nigerian Prostate Tumors from the Prostate Cancer Transatlantic Consortium (CaPTC) Reveals DNA Repair Genes Associated with African Ancestry.

Cancer Research Communications
White, Jason A JA; Kaninjing, Ernest T ET; Adeniji, Kayode A KA; Jibrin, Paul P; Obafunwa, John O JO; Ogo, Chidiebere N CN; Mohammed, Faruk F; Popoola, Ademola A; Fatiregun, Omolara A OA; Oluwole, Olabode P OP; Karanam, Balasubramanyam B; Elhussin, Isra I; Ambs, Stefan S; Tang, Wei W; Davis, Melissa M; Polak, Paz P; Campbell, Moray J MJ; Brignole, Kathryn R KR; Rotimi, Solomon O SO; Dean-Colomb, Windy W; Odedina, Folake T FT; Martin, Damali N DN; Yates, Clayton C
Publication Date: 2022-09

Variant appearance in text: ATM: 2284_2285del; Leu762fs
PubMed Link: 36922933
Variant Present in the following documents:
  • crc-22-0136-s01.xlsx, sheet 1
View BVdb publication page



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: 2282_2283del
PubMed Link: 36816149
Variant Present in the following documents:
  • BCO2-4-156-s001.xlsx, sheet 1
View BVdb publication page



Biallelic Optic Atrophy 1 (OPA1) Related Disorder-Case Report and Literature Review.

Genes
Othman, Bayan Al BA; Ong, Jia Ern JE; Dumitrescu, Alina V AV
Publication Date: 2022-06-02

Variant appearance in text: ATM: 2284_2285del
PubMed Link: 35741767
Variant Present in the following documents:
  • Main text
  • genes-13-01005.pdf
View BVdb publication page



Importance of multigene panel test in patients with consanguineous marriage and family history of breast cancer.

Oncology Letters
Ozmen, Vahit V; Caglayan, Ahmet Okay AO; Yararbas, Kanay K; Ordu, Cetin C; Aktepe, Fatma F; Ozmen, Tolga T; Ilgun, Ahmet Serkan AS; Soybir, Gursel G; Alco, Gul G; Tsaousis, Georgios N GN; Papadopoulou, Eirini E; Agiannitopoulos, Konstantinos K; Pepe, Georgia G; Kampouri, Stavroula S; Nasioulas, George G; Sezgin, Efe E; Soran, Atilla A
Publication Date: 2022-04

Variant appearance in text: ATM: 2284_2285delCT
PubMed Link: 35261632
Variant Present in the following documents:
  • ol-23-04-13238.pdf
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: ATM: 2284_2285del; Leu762Valfs*2
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



Population-based estimates of breast cancer risk for carriers of pathogenic variants identified by gene-panel testing.

Npj Breast Cancer
Southey, Melissa C MC; Dowty, James G JG; Riaz, Moeen M; Steen, Jason A JA; Renault, Anne-Laure AL; Tucker, Katherine K; Kirk, Judy J; James, Paul P; Winship, Ingrid I; Pachter, Nicholas N; Poplawski, Nicola N; Grist, Scott S; Park, Daniel J DJ; Pope, Bernard J BJ; Mahmood, Khalid K; Hammet, Fleur F; Mahmoodi, Maryam M; Tsimiklis, Helen H; Theys, Derrick D; Rewse, Amanda A; Willis, Amanda A; Morrow, April A; Speechly, Catherine C; Harris, Rebecca R; Sebra, Robert R; Schadt, Eric E; Lacaze, Paul P; McNeil, John J JJ; Giles, Graham G GG; Milne, Roger L RL; Hopper, John L JL; Nguyen-Dumont, Tú T
Publication Date: 2021-12-09

Variant appearance in text: ATM: 2284_2285del; Leu762Valfs*2
PubMed Link: 34887416
Variant Present in the following documents:
  • 41523_2021_360_MOESM1_ESM.pdf
View BVdb publication page



Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.

Bmc Medicine
Haverfield, Eden V EV; Esplin, Edward D ED; Aguilar, Sienna J SJ; Hatchell, Kathryn E KE; Ormond, Kelly E KE; Hanson-Kahn, Andrea A; Atwal, Paldeep S PS; Macklin-Mantia, Sarah S; Hines, Stephanie S; Sak, Caron W-M CW; Tucker, Steven S; Bleyl, Steven B SB; Hulick, Peter J PJ; Gordon, Ora K OK; Velsher, Lea L; Gu, Jessica Y J JYJ; Weissman, Scott M SM; Kruisselbrink, Teresa T; Abel, Christopher C; Kettles, Michele M; Slavotinek, Anne A; Mendelsohn, Bryce A BA; Green, Robert C RC; Aradhya, Swaroop S; Nussbaum, Robert L RL
Publication Date: 2021-08-18

Variant appearance in text: ATM: 2284_2285del; Leu762Valfs
PubMed Link: 34404389
Variant Present in the following documents:
  • 12916_2021_1999_MOESM2_ESM.pdf
View BVdb publication page



A computational and structural analysis of germline and somatic variants affecting the DDR mechanism, and their impact on human diseases.

Scientific Reports
Magraner-Pardo, Lorena L; Laskowski, Roman A RA; Pons, Tirso T; Thornton, Janet M JM
Publication Date: 2021-07-12

Variant appearance in text: ATM: 2284_2285delCT; L762fs
PubMed Link: 34253785
Variant Present in the following documents:
  • 41598_2021_93715_MOESM2_ESM.xlsx, sheet 7
View BVdb publication page



Germline variants in hereditary breast cancer genes are associated with early age at diagnosis and family history in Guatemalan breast cancer.

Breast Cancer Research And Treatment
Ren, Megan M; Orozco, Anali A; Shao, Kang K; Albanez, Anaseidy A; Ortiz, Jeremy J; Cao, Boyang B; Wang, Lusheng L; Barreda, Lilian L; Alvarez, Christian S CS; Garland, Lisa L; Wu, Dongjing D; Chung, Charles C CC; Wang, Jiahui J; Frone, Megan M; Ralon, Sergio S; Argueta, Victor V; Orozco, Roberto R; Gharzouzi, Eduardo E; Dean, Michael M
Publication Date: 2021-09

Variant appearance in text: ATM: 2282_2283del
PubMed Link: 34196900
Variant Present in the following documents:
  • 10549_2021_6305_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



The mutational pattern of homologous recombination (HR)-associated genes and its relevance to the immunotherapeutic response in gastric cancer.

Cancer Biology & Medicine
Fan, Yue Y; Ying, Haifeng H; Wu, Xueying X; Chen, Huan H; Hu, Ying Y; Zhang, Henghui H; Wu, Lijia L; Yang, Ying Y; Mao, Beibei B; Zheng, Lan L
Publication Date: 2020-11-15

Variant appearance in text: ATM: 2284_2285delCT; L762Vfs*2
PubMed Link: 33299649
Variant Present in the following documents:
  • cbm-17-1002-s001.pdf
View BVdb publication page



Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Nassar, Amin H AH; Abou Alaiwi, Sarah S; AlDubayan, Saud H SH; Moore, Nicholas N; Mouw, Kent W KW; Kwiatkowski, David J DJ; Choueiri, Toni K TK; Curran, Catherine C; Berchuck, Jacob E JE; Harshman, Lauren C LC; Nuzzo, Pier V PV; Chanza, Nieves Martinez NM; Van Allen, Eliezer E; Esplin, Edward D ED; Yang, Shan S; Callis, Thomas T; Garber, Judy E JE; Rana, Huma Q HQ; Sonpavde, Guru G
Publication Date: 2020-04

Variant appearance in text: ATM: 2284_2285delCT; Leu762Valfs*2
PubMed Link: 31844177
Variant Present in the following documents:
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 2
  • 41436_2019_720_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Germline breast cancer susceptibility gene mutations and breast cancer outcomes.

Bmc Cancer
Wang, Yong Alison YA; Jian, Jhih-Wei JW; Hung, Chen-Fang CF; Peng, Hung-Pin HP; Yang, Chi-Fan CF; Cheng, Hung-Chun Skye HS; Yang, An-Suei AS
Publication Date: 2018-03-22

Variant appearance in text: ATM: 2284_2285delCT; Leu762Valfs
PubMed Link: 29566657
Variant Present in the following documents:
  • Main text
  • 12885_2018_4229_MOESM2_ESM.xlsx, sheet 1
  • 12885_2018_Article_4229.pdf
View BVdb publication page



Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S
Publication Date: 2017-10

Variant appearance in text: ATM: 2284_2285delCT; Leu762Valfs
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.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: 2284_2285delCT; Leu762fs
PubMed Link: 27304073
Variant Present in the following documents:
  • elife-14709-supp1.xlsx, sheet 1
View BVdb publication page



Mutations driving CLL and their evolution in progression and relapse.

Nature
Landau, Dan A DA; Tausch, Eugen E; Taylor-Weiner, Amaro N AN; Stewart, Chip C; Reiter, Johannes G JG; Bahlo, Jasmin J; Kluth, Sandra S; Bozic, Ivana I; Lawrence, Mike M; Böttcher, Sebastian S; Carter, Scott L SL; Cibulskis, Kristian K; Mertens, Daniel D; Sougnez, Carrie L CL; Rosenberg, Mara M; Hess, Julian M JM; Edelmann, Jennifer J; Kless, Sabrina S; Kneba, Michael M; Ritgen, Matthias M; Fink, Anna A; Fischer, Kirsten K; Gabriel, Stacey S; Lander, Eric S ES; Nowak, Martin A MA; Döhner, Hartmut H; Hallek, Michael M; Neuberg, Donna D; Getz, Gad G; Stilgenbauer, Stephan S; Wu, Catherine J CJ
Publication Date: 2015-10-22

Variant appearance in text: ATM: 2282_2283delCT
PubMed Link: 26466571
Variant Present in the following documents:
  • NIHMS715090-supplement-Supplementary_Table_3.xlsx, sheet 1
View BVdb publication page



Lymphoid tumours and breast cancer in ataxia telangiectasia; substantial protective effect of residual ATM kinase activity against childhood tumours.

British Journal Of Cancer
Reiman, A A; Srinivasan, V V; Barone, G G; Last, J I JI; Wootton, L L LL; Davies, E G EG; Verhagen, M M MM; Willemsen, M A MA; Weemaes, C M CM; Byrd, P J PJ; Izatt, L L; Easton, D F DF; Thompson, D J DJ; Taylor, A M AM
Publication Date: 2011-08-09

Variant appearance in text: ATM: 2284_2285delCT; Leu762fs
PubMed Link: 21792198
Variant Present in the following documents:
View BVdb publication page