EGFR c.2240_2248del ;(p.L747_A750delinsS)

Variant ID: 7-55242470-TTAAGAGAAG-T

NM_005228.3(EGFR):c.2240_2248del;(p.L747_A750delinsS)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


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: EGFR: 2240_2248del; Leu747_Ala750delinsSer
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.

Frontiers In Immunology
Lin, Jing J; Liu, Jun J; Hao, Shi-Guang SG; Lan, Bin B; Zheng, Xiao-Bin XB; Xiong, Jia-Ni JN; Zhang, Ying-Qian YQ; Gao, Xuan X; Chen, Chuan-Ben CB; Chen, Ling L; Huang, Yu-Fang YF; Luo, Hong H; Yi, Yu-Ting YT; Yi, Xin X; Lu, Jian-Ping JP; Zheng, Xiong-Wei XW; Chen, Gang G; Wang, Xue-Feng XF; Chen, Yu Y
Publication Date: 2022

Variant appearance in text: EGFR: 2240_2248delTAAGAGAAG; L747_A750delinsS
PubMed Link: 36505399
Variant Present in the following documents:
  • Table_2.xlsx, sheet 3
  • Table_2.xlsx, sheet 2
View BVdb publication page



Allele-specific activation, enzyme kinetics, and inhibitor sensitivities of EGFR exon 19 deletion mutations in lung cancer.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Brown, Benjamin P BP; Zhang, Yun-Kai YK; Kim, Soyeon S; Finneran, Patrick P; Yan, Yingjun Y; Du, Zhenfang Z; Kim, Jiyoon J; Hartzler, Abigail Leigh AL; LeNoue-Newton, Michele L ML; Smith, Adam W AW; Meiler, Jens J; Lovly, Christine M CM
Publication Date: 2022-07-26

Variant appearance in text: EGFR: L747_A750delinsS
PubMed Link: 35867821
Variant Present in the following documents:
  • pnas.2206588119.sapp.pdf
View BVdb publication page



Clinical and genomic features of Chinese lung cancer patients with germline mutations.

Nature Communications
Peng, Wenying W; Li, Bin B; Li, Jin J; Chang, Lianpeng L; Bai, Jing J; Yi, Yuting Y; Chen, Rongrong R; Zhang, Yanyan Y; Chen, Chen C; Pu, Xingxiang X; Jiang, Meilin M; Li, Jia J; Zhong, Rui R; Xu, Fang F; Chen, Bolin B; Xu, Li L; Wang, Ning N; Huan, Jiaojiao J; Dai, Pingping P; Guan, Yanfang Y; Yang, Ling L; Xia, Xuefeng X; Yi, Xin X; Wang, Jiayin J; Yu, Fenglei F; Wu, Lin L
Publication Date: 2022-03-10

Variant appearance in text: EGFR: 2240_2248delTAAGAGAAG; L747_A750delinsS
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Evaluation of the Idylla ctEGFR mutation assay to detect EGFR mutations in plasma from patients with non-small cell lung cancers.

Scientific Reports
Gilson, Pauline P; Saurel, Chloé C; Salleron, Julia J; Husson, Marie M; Demange, Jessica J; Merlin, Jean-Louis JL; Harlé, Alexandre A
Publication Date: 2021-05-18

Variant appearance in text: EGFR: 2240_2248del
PubMed Link: 34006948
Variant Present in the following documents:
  • 41598_2021_90091_MOESM2_ESM.pdf
View BVdb publication page



Concomitant EGFR mutation and ALK rearrangement in multifocal lung adenocarcinoma: a case report.

Diagnostic Pathology
Fan, Jun J; Wu, Junhua J; Huang, Bo B; Zhu, Yili Y; Shi, Heshui H; Dai, Xiaofang X; Nie, Xiu X
Publication Date: 2020-05-06

Variant appearance in text: EGFR: 2240_2248delTAAGAGAAG; L747_A750delinsS
PubMed Link: 32375829
Variant Present in the following documents:
  • Main text
  • 13000_2020_Article_969.pdf
View BVdb publication page



Rapid EGFR mutation testing in lung cancer tissue samples using a fully automated system and single-use cartridge.

Practical Laboratory Medicine
Al-Turkmani, M Rabie MR; Suriawinata, Michael A MA; Deharvengt, Sophie J SJ; Green, Donald C DC; Black, Candice C CC; Shirai, Keisuke K; Dragnev, Konstantin H KH; Tsongalis, Gregory J GJ
Publication Date: 2020-05

Variant appearance in text: EGFR: 2240_2248del
PubMed Link: 32181314
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Genome-wide chemical mutagenesis screens allow unbiased saturation of the cancer genome and identification of drug resistance mutations.

Genome Research
Brammeld, Jonathan S JS; Petljak, Mia M; Martincorena, Inigo I; Williams, Steven P SP; Alonso, Luz Garcia LG; Dalmases, Alba A; Bellosillo, Beatriz B; Robles-Espinoza, Carla Daniela CD; Price, Stacey S; Barthorpe, Syd S; Tarpey, Patrick P; Alifrangis, Constantine C; Bignell, Graham G; Vidal, Joana J; Young, Jamie J; Stebbings, Lucy L; Beal, Kathryn K; Stratton, Michael R MR; Saez-Rodriguez, Julio J; Garnett, Mathew M; Montagut, Clara C; Iorio, Francesco F; McDermott, Ultan U
Publication Date: 2017-04

Variant appearance in text: EGFR: 2240_2248del; L747_E749del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page