ATM c.496G>A ;(p.E166K)

Variant ID: 11-108106561-G-A

NM_000051.3(ATM):c.496G>A;(p.E166K)

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: ATM: E166K
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



Minigene-based splicing analysis and ACMG/AMP-based tentative classification of 56 ATM variants.

The Journal Of Pathology
Bueno-Martínez, Elena E; Sanoguera-Miralles, Lara L; Valenzuela-Palomo, Alberto A; Esteban-Sánchez, Ada A; Lorca, Víctor V; Llinares-Burguet, Inés I; Allen, Jamie J; García-Álvarez, Alicia A; Pérez-Segura, Pedro P; Durán, Mercedes M; Easton, Douglas F DF; Devilee, Peter P; Vreeswijk, Maaike Pg MP; de la Hoya, Miguel M; Velasco-Sampedro, Eladio A EA
Publication Date: 2022-09

Variant appearance in text: ATM: 496G>A; Glu166Lys
PubMed Link: 35716007
Variant Present in the following documents:
  • Main text
  • PATH-258-83.pdf
View BVdb publication page



Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Genome Medicine
Dorling, Leila L; Carvalho, Sara S; Allen, Jamie J; Parsons, Michael T MT; Fortuno, Cristina C; González-Neira, Anna A; Heijl, Stephan M SM; Adank, Muriel A MA; Ahearn, Thomas U TU; Andrulis, Irene L IL; Auvinen, Päivi P; Becher, Heiko H; Beckmann, Matthias W MW; Behrens, Sabine S; Bermisheva, Marina M; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Bremer, Michael M; Briceno, Ignacio I; Camp, Nicola J NJ; Campbell, Archie A; Castelao, Jose E JE; Chang-Claude, Jenny J; Chanock, Stephen J SJ; Chenevix-Trench, Georgia G; , ; Collée, J Margriet JM; Czene, Kamila K; Dennis, Joe J; Dörk, Thilo T; Eriksson, Mikael M; Evans, D Gareth DG; Fasching, Peter A PA; Figueroa, Jonine J; Flyger, Henrik H; Gabrielson, Marike M; Gago-Dominguez, Manuela M; García-Closas, Montserrat M; Giles, Graham G GG; Glendon, Gord G; Guénel, Pascal P; Gündert, Melanie M; Hadjisavvas, Andreas A; Hahnen, Eric E; Hall, Per P; Hamann, Ute U; Harkness, Elaine F EF; Hartman, Mikael M; Hogervorst, Frans B L FBL; Hollestelle, Antoinette A; Hoppe, Reiner R; Howell, Anthony A; , ; , ; Jakubowska, Anna A; Jung, Audrey A; Khusnutdinova, Elza E; Kim, Sung-Won SW; Ko, Yon-Dschun YD; Kristensen, Vessela N VN; Lakeman, Inge M M IMM; Li, Jingmei J; Lindblom, Annika A; Loizidou, Maria A MA; Lophatananon, Artitaya A; Lubiński, Jan J; Luccarini, Craig C; Madsen, Michael J MJ; Mannermaa, Arto A; Manoochehri, Mehdi M; Margolin, Sara S; Mavroudis, Dimitrios D; Milne, Roger L RL; Mohd Taib, Nur Aishah NA; Muir, Kenneth K; Nevanlinna, Heli H; Newman, William G WG; Oosterwijk, Jan C JC; Park, Sue K SK; Peterlongo, Paolo P; Radice, Paolo P; Saloustros, Emmanouil E; Sawyer, Elinor J EJ; Schmutzler, Rita K RK; Shah, Mitul M; Sim, Xueling X; Southey, Melissa C MC; Surowy, Harald H; Suvanto, Maija M; Tomlinson, Ian I; Torres, Diana D; Truong, Thérèse T; van Asperen, Christi J CJ; Waltes, Regina R; Wang, Qin Q; Yang, Xiaohong R XR; Pharoah, Paul D P PDP; Schmidt, Marjanka K MK; Benitez, Javier J; Vroling, Bas B; Dunning, Alison M AM; Teo, Soo Hwang SH; Kvist, Anders A; de la Hoya, Miguel M; Devilee, Peter P; Spurdle, Amanda B AB; Vreeswijk, Maaike P G MPG; Easton, Douglas F DF
Publication Date: 2022-05-18

Variant appearance in text: ATM: 496G>A; Glu166Lys
PubMed Link: 35585550
Variant Present in the following documents:
  • 13073_2022_1052_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Insights into Immune Escape During Tumor Evolution and Response to Immunotherapy Using a Rat Model of Breast Cancer.

Cancer Immunology Research
Gil Del Alcazar, Carlos R CR; Trinh, Anne A; Alečković, Maša M; Rojas Jimenez, Ernesto E; Harper, Nicholas W NW; Oliphant, Michael U J MUJ; Xie, Shanshan S; Krop, Ethan D ED; Lulseged, Bethlehem B; Murphy, Katherine C KC; Keenan, Tanya E TE; Van Allen, Eliezer M EM; Tolaney, Sara M SM; Freeman, Gordon J GJ; Dillon, Deborah A DA; Muthuswamy, Senthil K SK; Polyak, Kornelia K
Publication Date: 2022-06-03

Variant appearance in text: ATM: E166K
PubMed Link: 35446942
Variant Present in the following documents:
  • cir-21-0804_supplementary_table_s3_supps3.xlsx, sheet 2
View BVdb publication page



Phase 1b study of berzosertib and cisplatin in patients with advanced triple-negative breast cancer.

Npj Breast Cancer
Telli, Melinda L ML; Tolaney, Sara M SM; Shapiro, Geoffrey I GI; Middleton, Mark M; Lord, Simon R SR; Arkenau, Hendrik Tobias HT; Tutt, Andrew A; Abramson, Vandana V; Dean, Emma E; Haddad, Tufia C TC; Wesolowski, Robert R; Ferrer-Playan, Jordi J; Goddemeier, Thomas T; Grombacher, Thomas T; Dong, Jennifer J; Fleuranceau-Morel, Patricia P; Diaz-Padilla, Ivan I; Plummer, Ruth R
Publication Date: 2022-04-07

Variant appearance in text: ATM: E166K
PubMed Link: 35393425
Variant Present in the following documents:
  • 41523_2022_406_MOESM1_ESM.pdf
View BVdb publication page



The mutational load and a T-cell inflamed tumour phenotype identify ovarian cancer patients rendering tumour-reactive T cells from PD-1+ tumour-infiltrating lymphocytes.

British Journal Of Cancer
Salas-Benito, Diego D; Conde, Enrique E; Tamayo-Uria, Ibon I; Mancheño, Uxua U; Elizalde, Edurne E; Garcia-Ros, David D; Aramendia, Jose M JM; Muruzabal, Juan C JC; Alcaide, Julia J; Guillen-Grima, Francisco F; Minguez, Jose A JA; Amores-Tirado, Jose J; Gonzalez-Martin, Antonio A; Sarobe, Pablo P; Lasarte, Juan J JJ; Ponz-Sarvise, Mariano M; De Andrea, Carlos E CE; Hervas-Stubbs, Sandra S
Publication Date: 2021-03

Variant appearance in text: ATM: 496G>A; Glu166Lys
PubMed Link: 33402737
Variant Present in the following documents:
  • 41416_2020_1218_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Sequencing of Lynch syndrome tumors reveals the importance of epigenetic alterations.

Oncotarget
Porkka, Noora N; Valo, Satu S; Nieminen, Taina T TT; Olkinuora, Alisa A; Mäki-Nevala, Satu S; Eldfors, Samuli S; Peltomäki, Päivi P
Publication Date: 2017-12-08

Variant appearance in text: ATM: E166K
PubMed Link: 29296220
Variant Present in the following documents:
  • oncotarget-08-108020-s006.xlsx, sheet 1
View BVdb publication page