ATM c.6040G>A ;(p.E2014K)

Variant ID: 11-108186583-G-A

NM_000051.3(ATM):c.6040G>A;(p.E2014K)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Genomic Landscape of Primary Resistance to Osimertinib Among Hispanic Patients with EGFR-Mutant Non-Small Cell Lung Cancer (NSCLC): Results of an Observational Longitudinal Cohort Study.

Targeted Oncology
Chamorro, Diego F DF; Cardona, Andrés F AF; Rodríguez, July J; Ruiz-Patiño, Alejandro A; Arrieta, Oscar O; Moreno-Pérez, Darwin A DA; Rojas, Leonardo L; Zatarain-Barrón, Zyanya Lucia ZL; Ardila, Dora V DV; Viola, Lucia L; Recondo, Gonzalo G; Blaquier, Juan B JB; Martín, Claudio C; Raez, Luis L; Samtani, Suraj S; Ordóñez-Reyes, Camila C; Garcia-Robledo, Juan Esteban JE; Corrales, Luis L; Sotelo, Carolina C; Ricaurte, Luisa L; Cuello, Mauricio M; Mejía, Sergio S; Jaller, Elvira E; Vargas, Carlos C; Carranza, Hernán H; Otero, Jorge J; Archila, Pilar P; Bermudez, Maritza M; Gamez, Tatiana T; Russo, Alessandro A; Malapelle, Umberto U; de Miguel Perez, Diego D; de Lima, Vladmir C Cordeiro VCC; Freitas, Helano H; Saldahna, Erick E; Rolfo, Christian C; Rosell, Rafael R; ,
Publication Date: 2023-04-05

Variant appearance in text: ATM: E2014K
PubMed Link: 37017806
Variant Present in the following documents:
  • 11523_2023_955_MOESM1_ESM.pdf
View BVdb publication page



Genomic and microenvironmental landscape of stage I follicular lymphoma, compared with stage III/IV.

Blood Advances
Los-de Vries, G Tjitske GT; Stevens, Wendy B C WBC; van Dijk, Erik E; Langois-Jacques, Carole C; Clear, Andrew J AJ; Stathi, Phylicia P; Roemer, Margaretha G M MGM; Mendeville, Matias M; Hijmering, Nathalie J NJ; Sander, Birgitta B; Rosenwald, Andreas A; Calaminici, Maria M; Hoster, Eva E; Hiddemann, Wolfgang W; Gaulard, Philippe P; Salles, Gilles G; Horn, Heike H; Klapper, Wolfram W; Xerri, Luc L; Burton, Catherine C; Tooze, Reuben M RM; Smith, Alexandra G AG; Buske, Christian C; Scott, David W DW; Natkunam, Yasodha Y; Advani, Ranjana R; Sehn, Laurie H LH; Raemaekers, John J; Gribben, John J; Kimby, Eva E; Kersten, Marie José MJ; Maucort-Boulch, Delphine D; Ylstra, Bauke B; de Jong, Daphne D
Publication Date: 2022-09-27

Variant appearance in text: ATM: 6040G>A; E2014K; rs375783941
PubMed Link: 35816682
Variant Present in the following documents:
  • advancesADV2022008355-suppl2.xlsx, sheet 11
View BVdb publication page



Druggable targets meet oncogenic drivers: opportunities and limitations of target-based classification of tumors and the role of Molecular Tumor Boards.

Esmo Open
Danesi, R R; Fogli, S S; Indraccolo, S S; Del Re, M M; Dei Tos, A P AP; Leoncini, L L; Antonuzzo, L L; Bonanno, L L; Guarneri, V V; Pierini, A A; Amunni, G G; Conte, P P
Publication Date: 2021-04

Variant appearance in text: ATM: E2014K
PubMed Link: 33540286
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



A comprehensive evaluation of pathogenic mutations in primary cutaneous melanomas, including the identification of novel loss-of-function variants.

Scientific Reports
Ticha, Ivana I; Hojny, Jan J; Michalkova, Romana R; Kodet, Ondrej O; Krkavcova, Eva E; Hajkova, Nikola N; Nemejcova, Kristyna K; Bartu, Michaela M; Jaksa, Radek R; Dura, Miroslav M; Kanwal, Madiha M; Martinikova, Andra S AS; Macurek, Libor L; Zemankova, Petra P; Kleibl, Zdenek Z; Dundr, Pavel P
Publication Date: 2019-11-19

Variant appearance in text: ATM: E2014K
PubMed Link: 31745173
Variant Present in the following documents:
  • Main text
  • 41598_2019_Article_53636.pdf
View BVdb publication page



Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Haematologica
Jallades, Laurent L; Baseggio, Lucile L; Sujobert, Pierre P; Huet, Sarah S; Chabane, Kaddour K; Callet-Bauchu, Evelyne E; Verney, Aurélie A; Hayette, Sandrine S; Desvignes, Jean-Pierre JP; Salgado, David D; Levy, Nicolas N; Béroud, Christophe C; Felman, Pascale P; Berger, Françoise F; Magaud, Jean-Pierre JP; Genestier, Laurent L; Salles, Gilles G; Traverse-Glehen, Alexandra A
Publication Date: 2017-10

Variant appearance in text: ATM: 6040G>A; Glu2014Lys
PubMed Link: 28751561
Variant Present in the following documents:
  • 2016.160192.JALLADES_SUPPL.pdf
View BVdb publication page