EGFR c.2240_2251del ;(p.L747_T751delinsS)

Variant ID: 7-55242470-TTAAGAGAAGCAA-T

NM_005228.3(EGFR):c.2240_2251del;(p.L747_T751delinsS)

This variant was identified in 28 publications

View GRCh38 version.




Publications:


Case report: olaparib use in metastatic lung adenocarcinoma with BRCA2 pathogenic variant.

Cold Spring Harbor Molecular Case Studies
Soon Jian Hao, Jonathan J; Hoai, Chan Sock CS; Weng, Daniel Tan Shao DTS; Ngeow, Joanne J; Chiang, Jianbang J
Publication Date: 2022-12

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 36577523
Variant Present in the following documents:
  • supp_mcs.a006223_Supplemental_Material.pdf
View BVdb publication page



Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing.

Journal Of Pathology And Translational Medicine
Lee, Jeonghyo J; Han, Yeon Bi YB; Kwon, Hyun Jung HJ; Lee, Song Kook SK; Kim, Hyojin H; Chung, Jin-Haeng JH
Publication Date: 2022-09

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 36128861
Variant Present in the following documents:
  • jptm-2022-06-11-suppl1.pdf
View BVdb publication page



Genomic Landscape of RTK/RAS Pathway and Tumor Immune Infiltration as Prognostic Indicator of Lung Adenocarcinoma.

Frontiers In Oncology
Yin, Xiang-Qian XQ; Yin, Xue-Hui XH; Yu, Ya-Qin YQ; Xu, Lang L; Zhang, Mao M
Publication Date: 2022

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 35936718
Variant Present in the following documents:
  • Table_4.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_T751delinsS
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_2251delTAAGAGAAGCAA; L747_T751delinsS
PubMed Link: 35273153
Variant Present in the following documents:
  • 41467_2022_28840_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Technical Evaluation of the COBAS EGFR Semiquantitative Index (SQI) for Plasma cfDNA Testing in NSCLC Patients with EGFR Exon 19 Deletions.

Diagnostics (Basel, Switzerland)
González de Aledo-Castillo, José Manuel JM; Serhir-Sgheiri, Samira S; Calbet-Llopart, Neus N; Arcocha, Ainara A; Jares, Pedro P; Reguart, Noemí N; Puig-Butillé, Joan Antón JA
Publication Date: 2021-07-22

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 34441254
Variant Present in the following documents:
  • Main text
  • diagnostics-11-01319.pdf
View BVdb publication page



Dynamic Evaluation of Circulating miRNA Profile in EGFR-Mutated NSCLC Patients Treated with EGFR-TKIs.

Cells
Leonetti, Alessandro A; Capula, Mjriam M; Minari, Roberta R; Mazzaschi, Giulia G; Gregori, Alessandro A; El Hassouni, Btissame B; Papini, Filippo F; Bordi, Paola P; Verzè, Michela M; Avan, Amir A; Tiseo, Marcello M; Giovannetti, Elisa E
Publication Date: 2021-06-16

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 34208765
Variant Present in the following documents:
  • Main text
  • cells-10-01520.pdf
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_2251del
PubMed Link: 34006948
Variant Present in the following documents:
  • 41598_2021_90091_MOESM2_ESM.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: EGFR: 2240_2251del
PubMed Link: 33704917
Variant Present in the following documents:
  • TCA-12-1271-s003.xls, sheet 1
View BVdb publication page



Routine Molecular Screening of Patients with Advanced Non-SmallCell Lung Cancer in Circulating Cell-Free DNA at Diagnosis and During Progression Using OncoBEAMTM EGFR V2 and NGS Technologies.

Molecular Diagnosis & Therapy
Garcia, Jessica J; Gauthier, Arnaud A; Lescuyer, Gaëlle G; Barthelemy, David D; Geiguer, Florence F; Balandier, Julie J; Edelstein, Daniel L DL; Jones, Frederick S FS; Holtrup, Frank F; Duruisseau, Mickael M; Grolleau, Emmanuel E; Rodriguez-Lafrasse, Claire C; Merle, Patrick P; Couraud, Sébastien S; Payen, Léa L
Publication Date: 2021-03

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 33660188
Variant Present in the following documents:
  • 40291_2021_515_MOESM1_ESM.pdf
View BVdb publication page



Pan-cancer circulating tumor DNA detection in over 10,000 Chinese patients.

Nature Communications
Zhang, Yongliang Y; Yao, Yu Y; Xu, Yaping Y; Li, Lifeng L; Gong, Yan Y; Zhang, Kai K; Zhang, Meng M; Guan, Yanfang Y; Chang, Lianpeng L; Xia, Xuefeng X; Li, Lin L; Jia, Shuqin S; Zeng, Qiang Q
Publication Date: 2021-01-04

Variant appearance in text: EGFR: 2240_2251delTAAGAGAAGCAA; L747_T751delinsS
PubMed Link: 33397889
Variant Present in the following documents:
  • 41467_2020_20162_MOESM6_ESM.xlsx, sheet 1
  • 41467_2020_20162_MOESM10_ESM.xlsx, sheet 1
View BVdb publication page



Mass Spectrometry as a Highly Sensitive Method for Specific Circulating Tumor DNA Analysis in NSCLC: A Comparison Study.

Cancers
Lamy, Pierre-Jean PJ; van der Leest, Paul P; Lozano, Nicolas N; Becht, Catherine C; Duboeuf, Frédérique F; Groen, Harry J M HJM; Hilgers, Werner W; Pourel, Nicolas N; Rifaela, Naomi N; Schuuring, Ed E; Alix-Panabières, Catherine C
Publication Date: 2020-10-16

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 33081150
Variant Present in the following documents:
  • cancers-12-03002-s001.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_2251del
PubMed Link: 32181314
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Exosome-based detection of activating and resistance EGFR mutations from plasma of non-small cell lung cancer patients.

Oncotarget
Castellanos-Rizaldos, Elena E; Zhang, Xuan X; Tadigotla, Vasisht R VR; Grimm, Dominik G DG; Karlovich, Chris C; Raez, Luis E LE; Skog, Johan K JK
Publication Date: 2019-04-23

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 31080561
Variant Present in the following documents:
  • Main text
  • oncotarget-10-2911.pdf
View BVdb publication page



Fibroblast growth factor receptor 3 (FGFR3) aberrations in muscle-invasive urothelial carcinoma.

Bmc Urology
Kim, Young Saing YS; Kim, Kyung K; Kwon, Ghee-Young GY; Lee, Su Jin SJ; Park, Se Hoon SH
Publication Date: 2018-07-31

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 30064409
Variant Present in the following documents:
  • 12894_2018_380_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Performance of next-generation sequencing on small tumor specimens and/or low tumor content samples using a commercially available platform.

Plos One
Morris, Scott M SM; Subramanian, Janakiraman J; Gel, Esma S ES; Runger, George C GC; Thompson, Eric J EJ; Mallery, David W DW; Weiss, Glen J GJ
Publication Date: 2018

Variant appearance in text: ERBB1: 2240_2251del
PubMed Link: 29702695
Variant Present in the following documents:
  • pone.0196556.s001.xlsx, sheet 1
View BVdb publication page



Feasibility study of cancer genome alterations identified by next generation sequencing: ABC study.

Japanese Journal Of Clinical Oncology
Naito, Yoichi Y; Takahashi, Hideaki H; Shitara, Kohei K; Okamoto, Wataru W; Bando, Hideaki H; Kuwata, Takeshi T; Kuboki, Yasutoshi Y; Matsumoto, Shingo S; Miki, Izumi I; Yamanaka, Takeharu T; Watanabe, Atsushi A; Kojima, Motohiro M
Publication Date: 2018-06-01

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 29659903
Variant Present in the following documents:
  • hyy052supplementaltable1ionver1.xls, sheet 1
View BVdb publication page



Molecular characteristics and clinical outcomes of EGFR exon 19 indel subtypes to EGFR TKIs in NSCLC patients.

Oncotarget
Su, Jian J; Zhong, Wenzhao W; Zhang, Xuchao X; Huang, Ying Y; Yan, Honghong H; Yang, Jinji J; Dong, Zhongyi Z; Xie, Zhi Z; Zhou, Qing Q; Huang, Xiaosui X; Lu, Danxia D; Yan, Wenqing W; Wu, Yi-Long YL
Publication Date: 2017-12-19

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 29340050
Variant Present in the following documents:
  • Main text
  • oncotarget-08-111246.pdf
View BVdb publication page



Optimization of EGFR mutation detection by the fully-automated qPCR-based Idylla system on tumor tissue from patients with non-small cell lung cancer.

Oncotarget
Ilie, Marius M; Butori, Catherine C; Lassalle, Sandra S; Heeke, Simon S; Piton, Nicolas N; Sabourin, Jean-Christophe JC; Tanga, Virginie V; Washetine, Kevin K; Long-Mira, Elodie E; Maitre, Priscilla P; Yazbeck, Nathalie N; Bordone, Olivier O; Lespinet, Virginie V; Leroy, Sylvie S; Cohen, Charlotte C; Mouroux, Jérôme J; Marquette, Charles Hugo CH; Hofman, Véronique V; Hofman, Paul P
Publication Date: 2017-11-28

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 29262544
Variant Present in the following documents:
  • oncotarget-08-103055-s003.xlsx, sheet 1
View BVdb publication page



Molecular Characterization of Urothelial Carcinoma of the Bladder and Upper Urinary Tract.

Translational Oncology
Lee, Ji Yun JY; Kim, Kyung K; Sung, Hyun Hwan HH; Jeon, Hwang Gyun HG; Jeong, Byong Chang BC; Seo, Seong Il SI; Jeon, Seong Soo SS; Lee, Hyun Moo HM; Choi, Han-Yong HY; Kwon, Ghee-Young GY; Kim, Kyoung-Mee KM; Lee, Jeeyun J; Lim, Ho Yeong HY; Park, Se Hoon SH
Publication Date: 2018-02

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 29161613
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
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_2251del
PubMed Link: 28179366
Variant Present in the following documents:
  • supp_gr.213546.116_Supplemental_Table_S7.xlsx, sheet 1
View BVdb publication page



Circulating tumour DNA profiling reveals heterogeneity of EGFR inhibitor resistance mechanisms in lung cancer patients.

Nature Communications
Chabon, Jacob J JJ; Simmons, Andrew D AD; Lovejoy, Alexander F AF; Esfahani, Mohammad S MS; Newman, Aaron M AM; Haringsma, Henry J HJ; Kurtz, David M DM; Stehr, Henning H; Scherer, Florian F; Karlovich, Chris A CA; Harding, Thomas C TC; Durkin, Kathleen A KA; Otterson, Gregory A GA; Purcell, W Thomas WT; Camidge, D Ross DR; Goldman, Jonathan W JW; Sequist, Lecia V LV; Piotrowska, Zofia Z; Wakelee, Heather A HA; Neal, Joel W JW; Alizadeh, Ash A AA; Diehn, Maximilian M
Publication Date: 2016-06-10

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 27283993
Variant Present in the following documents:
  • ncomms11815-s2.xlsx, sheet 1
View BVdb publication page



Mutational profiling of brain metastasis from breast cancer: matched pair analysis of targeted sequencing between brain metastasis and primary breast cancer.

Oncotarget
Lee, Ji Yun JY; Park, Kyunghee K; Lim, Sung Hee SH; Kim, Hae Su HS; Yoo, Kwai Han KH; Jung, Ki Sun KS; Song, Haa-Na HN; Hong, Mineui M; Do, In-Gu IG; Ahn, TaeJin T; Lee, Se Kyung SK; Bae, Soo Youn SY; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Jung, Hae Hyun HH; Kim, Ji-Yeon JY; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-12-22

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 26527317
Variant Present in the following documents:
  • oncotarget-06-43731-s002.xlsx, sheet 1
View BVdb publication page



Patient-derived cell models as preclinical tools for genome-directed targeted therapy.

Oncotarget
Lee, Ji Yun JY; Kim, Sun Young SY; Park, Charny C; Kim, Nayoung K D NK; Jang, Jiryeon J; Park, Kyunghee K; Yi, Jun Ho JH; Hong, Mineui M; Ahn, Taejin T; Rath, Oliver O; Schueler, Julia J; Kim, Seung Tae ST; Do, In-Gu IG; Lee, Sujin S; Park, Se Hoon SH; Ji, Yong Ick YI; Kim, Dukwhan D; Park, Joon Oh JO; Park, Young Suk YS; Kang, Won Ki WK; Kim, Kyoung-Mee KM; Park, Woong-Yang WY; Lim, Ho Yeong HY; Lee, Jeeyun J
Publication Date: 2015-09-22

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 26296973
Variant Present in the following documents:
  • oncotarget-06-25619-s003.xls, sheet 1
View BVdb publication page



Molecular characterization of patients with pathologic complete response or early failure after neoadjuvant chemotherapy for locally advanced breast cancer using next generation sequencing and nCounter assay.

Oncotarget
Park, Kyunghee K; Choi, Moon Ki MK; Jung, Hae Hyun HH; Do, In-Gu IG; Lee, Kwang Hee KH; Ahn, TaeJin T; Kil, Won Ho WH; Kim, Seok Won SW; Lee, Jeong Eon JE; Nam, Seok Jin SJ; Kim, Duk-Hwan DH; Ahn, Jin Seok JS; Im, Young-Hyuck YH; Park, Yeon Hee YH
Publication Date: 2015-09-15

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 26009992
Variant Present in the following documents:
  • oncotarget-06-24499-s002.xlsx, sheet 1
View BVdb publication page



High-throughput sequencing and copy number variation detection using formalin fixed embedded tissue in metastatic gastric cancer.

Plos One
Kim, Seokhwi S; Lee, Jeeyun J; Hong, Min Eui ME; Do, In-Gu IG; Kang, So Young SY; Ha, Sang Yun SY; Kim, Seung Tae ST; Park, Se Hoon SH; Kang, Won Ki WK; Choi, Min-Gew MG; Lee, Jun Ho JH; Sohn, Tae Sung TS; Bae, Jae Moon JM; Kim, Sung S; Kim, Duk-Hwan DH; Kim, Kyoung-Mee KM
Publication Date: 2014

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 25372287
Variant Present in the following documents:
  • pone.0111693.s003.xls, sheet 1
View BVdb publication page



Complex mutations & subpopulations of deletions at exon 19 of EGFR in NSCLC revealed by next generation sequencing: potential clinical implications.

Plos One
Marchetti, Antonio A; Del Grammastro, Maela M; Filice, Giampaolo G; Felicioni, Lara L; Rossi, Giulio G; Graziano, Paolo P; Sartori, Giuliana G; Leone, Alvaro A; Malatesta, Sara S; Iacono, Michele M; Guetti, Luigi L; Viola, Patrizia P; Mucilli, Felice F; Cuccurullo, Franco F; Buttitta, Fiamma F
Publication Date: 2012

Variant appearance in text: EGFR: 2240_2251del
PubMed Link: 22848739
Variant Present in the following documents:
  • pone.0042164.s003.xls, sheet 1
View BVdb publication page



The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity.

Nature
Barretina, Jordi J; Caponigro, Giordano G; Stransky, Nicolas N; Venkatesan, Kavitha K; Margolin, Adam A AA; Kim, Sungjoon S; Wilson, Christopher J CJ; Lehár, Joseph J; Kryukov, Gregory V GV; Sonkin, Dmitriy D; Reddy, Anupama A; Liu, Manway M; Murray, Lauren L; Berger, Michael F MF; Monahan, John E JE; Morais, Paula P; Meltzer, Jodi J; Korejwa, Adam A; Jané-Valbuena, Judit J; Mapa, Felipa A FA; Thibault, Joseph J; Bric-Furlong, Eva E; Raman, Pichai P; Shipway, Aaron A; Engels, Ingo H IH; Cheng, Jill J; Yu, Guoying K GK; Yu, Jianjun J; Aspesi, Peter P; de Silva, Melanie M; Jagtap, Kalpana K; Jones, Michael D MD; Wang, Li L; Hatton, Charles C; Palescandolo, Emanuele E; Gupta, Supriya S; Mahan, Scott S; Sougnez, Carrie C; Onofrio, Robert C RC; Liefeld, Ted T; MacConaill, Laura L; Winckler, Wendy W; Reich, Michael M; Li, Nanxin N; Mesirov, Jill P JP; Gabriel, Stacey B SB; Getz, Gad G; Ardlie, Kristin K; Chan, Vivien V; Myer, Vic E VE; Weber, Barbara L BL; Porter, Jeff J; Warmuth, Markus M; Finan, Peter P; Harris, Jennifer L JL; Meyerson, Matthew M; Golub, Todd R TR; Morrissey, Michael P MP; Sellers, William R WR; Schlegel, Robert R; Garraway, Levi A LA
Publication Date: 2012-03-28

Variant appearance in text: EGFR: 2240_2251delTAAGAGAAGCAA
PubMed Link: 22460905
Variant Present in the following documents:
  • NIHMS361223-supplement-4.xlsx, sheet 3
View BVdb publication page