EGFR c.2039G>A ;(p.R680Q)

Variant ID: 7-55240795-G-A

NM_005228.3(EGFR):c.2039G>A;(p.R680Q)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


Impact of EGFRA289T/V mutation on relapse pattern in glioblastoma.

Esmo Open
Noeuveglise, A A; Sarafan-Vasseur, N N; Beaussire, L L; Marguet, F F; Modzelewski, R R; Hanzen, C C; Alexandru, C C; Magne, N N; Langlois, O O; Di Fiore, F F; Clatot, F F; Thureau, S S; Fontanilles, M M
Publication Date: 2022-12-22

Variant appearance in text: EGFR: R680Q
PubMed Link: 36566697
Variant Present in the following documents:
  • main.pdf
View BVdb publication page



Analysis of single-nucleotide polymorphisms in genes associated with triple-negative breast cancer.

Frontiers In Genetics
G, Vigneshwaran V; Hasan, Qurratulain Annie QA; Kumar, Rahul R; Eranki, Avinash A
Publication Date: 2022

Variant appearance in text: rs373336251
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 4
View BVdb publication page



Genomic characterization reveals distinct mutation landscapes and therapeutic implications in neuroendocrine carcinomas of the gastrointestinal tract.

Cancer Communications (London, England)
Wu, Huanwen H; Yu, Zicheng Z; Liu, Yueping Y; Guo, Lei L; Teng, Lianghong L; Guo, Lingchuan L; Liang, Li L; Wang, Jing J; Gao, Jie J; Li, Ruiyu R; Yang, Ling L; Nie, Xiu X; Su, Dan D; Liang, Zhiyong Z
Publication Date: 2022-10-20

Variant appearance in text: EGFR: 2039G>A; R680Q; rs373336251
PubMed Link: 36264285
Variant Present in the following documents:
  • CAC2-42-1367-s002.xlsx, sheet 3
View BVdb publication page



Integrative analysis prioritised oxytocin-related biomarkers associated with the aetiology of autism spectrum disorder.

Ebiomedicine
Wang, Tao T; Zhao, Tingting T; Liu, Liqiu L; Teng, Huajing H; Fan, Tianda T; Li, Yi Y; Wang, Yan Y; Li, Jinchen J; Xia, Kun K; Sun, Zhongsheng Z
Publication Date: 2022-07

Variant appearance in text: EGFR: 2039G>A; R680Q; rs373336251
PubMed Link: 35665681
Variant Present in the following documents:
  • mmc26.xlsx, sheet 1
View BVdb publication page



Preclinical assessment of combination therapy of EGFR tyrosine kinase inhibitors in a highly heterogeneous tumor model.

Oncogene
Ikeuchi, Hiroshi H; Hirose, Takeshi T; Ikegami, Masachika M; Takamochi, Kazuya K; Suzuki, Kenji K; Mano, Hiroyuki H; Kohsaka, Shinji S
Publication Date: 2022-04

Variant appearance in text: EGFR: R680Q
PubMed Link: 35304574
Variant Present in the following documents:
  • 41388_2022_Article_2263.pdf
View BVdb publication page



Identifying Actionable Variants Using Capture-Based Targeted Sequencing in 563 Patients With Non-Small Cell Lung Carcinoma.

Frontiers In Oncology
Jiang, Haiping H; Wang, Yinan Y; Xu, Hanlin H; Lei, Wei W; Yu, Xiaoyun X; Tian, Haiying H; Meng, Cong C; Wang, Xueying X; Zhao, Zicheng Z; Jin, Xiangfeng X
Publication Date: 2021

Variant appearance in text: EGFR: R680Q; rs373336251
PubMed Link: 35186718
Variant Present in the following documents:
  • Table_1.xlsx, sheet 2
View BVdb publication page



Mutational landscape of marginal zone B-cell lymphomas of various origin: organotypic alterations and diagnostic potential for assignment of organ origin.

Virchows Archiv : An International Journal Of Pathology
Vela, Visar V; Juskevicius, Darius D; Dirnhofer, Stefan S; Menter, Thomas T; Tzankov, Alexandar A
Publication Date: 2022-02

Variant appearance in text: rs373336251
PubMed Link: 34494161
Variant Present in the following documents:
  • 428_2021_3186_MOESM22_ESM.xlsx, sheet 1
  • 428_2021_3186_MOESM21_ESM.xlsx, sheet 1
View BVdb publication page



Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine
Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS
Publication Date: 2021-05

Variant appearance in text: EGFR: R680Q; rs373336251
PubMed Link: 33811746
Variant Present in the following documents:
  • CAM4-10-3045-s001.xlsx, sheet 2
View BVdb publication page



Systematic Review of Somatic Mutations in Splenic Marginal Zone Lymphoma.

Scientific Reports
Jaramillo Oquendo, Carolina C; Parker, Helen H; Oscier, David D; Ennis, Sarah S; Gibson, Jane J; Strefford, Jonathan C JC
Publication Date: 2019-07-18

Variant appearance in text: EGFR: R680Q; rs373336251
PubMed Link: 31320741
Variant Present in the following documents:
  • 41598_2019_46906_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Breast cancer patients suggestive of Li-Fraumeni syndrome: mutational spectrum, candidate genes, and unexplained heredity.

Breast Cancer Research : Bcr
Penkert, Judith J; Schmidt, Gunnar G; Hofmann, Winfried W; Schubert, Stephanie S; Schieck, Maximilian M; Auber, Bernd B; Ripperger, Tim T; Hackmann, Karl K; Sturm, Marc M; Prokisch, Holger H; Hille-Betz, Ursula U; Mark, Dorothea D; Illig, Thomas T; Schlegelberger, Brigitte B; Steinemann, Doris D
Publication Date: 2018-08-07

Variant appearance in text: rs373336251
PubMed Link: 30086788
Variant Present in the following documents:
  • Main text
  • 13058_2018_Article_1011.pdf
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: rs373336251
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Circulating tumour DNA sequence analysis as an alternative to multiple myeloma bone marrow aspirates.

Nature Communications
Kis, Olena O; Kaedbey, Rayan R; Chow, Signy S; Danesh, Arnavaz A; Dowar, Mark M; Li, Tiantian T; Li, Zhihua Z; Liu, Jessica J; Mansour, Mark M; Masih-Khan, Esther E; Zhang, Tong T; Bratman, Scott V SV; Oza, Amit M AM; Kamel-Reid, Suzanne S; Trudel, Suzanne S; Pugh, Trevor J TJ
Publication Date: 2017-05-11

Variant appearance in text: EGFR: R680Q; rs373336251
PubMed Link: 28492226
Variant Present in the following documents:
  • ncomms15086-s3.xlsx, sheet 1
View BVdb publication page



The impact of tumor profiling approaches and genomic data strategies for cancer precision medicine.

Genome Medicine
Garofalo, Andrea A; Sholl, Lynette L; Reardon, Brendan B; Taylor-Weiner, Amaro A; Amin-Mansour, Ali A; Miao, Diana D; Liu, David D; Oliver, Nelly N; MacConaill, Laura L; Ducar, Matthew M; Rojas-Rudilla, Vanesa V; Giannakis, Marios M; Ghazani, Arezou A; Gray, Stacy S; Janne, Pasi P; Garber, Judy J; Joffe, Steve S; Lindeman, Neal N; Wagle, Nikhil N; Garraway, Levi A LA; Van Allen, Eliezer M EM
Publication Date: 2016-07-26

Variant appearance in text: EGFR: 2039G>A; R680Q
PubMed Link: 27460824
Variant Present in the following documents:
  • 13073_2016_333_MOESM4_ESM.xlsx, sheet 1
  • 13073_2016_333_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Prediction of response to anti-EGFR antibody-based therapies by multigene sequencing in colorectal cancer patients.

Bmc Cancer
Lupini, Laura L; Bassi, Cristian C; Mlcochova, Jitka J; Musa, Gentian G; Russo, Marta M; Vychytilova-Faltejskova, Petra P; Svoboda, Marek M; Sabbioni, Silvia S; Nemecek, Radim R; Slaby, Ondrej O; Negrini, Massimo M
Publication Date: 2015-10-27

Variant appearance in text: EGFR: R680Q
PubMed Link: 26508446
Variant Present in the following documents:
  • 12885_2015_1752_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page