EGFR c.2416A>G ;(p.K806E)

Variant ID: 7-55249118-A-G

NM_005228.3(EGFR):c.2416A>G;(p.K806E)

This variant was identified in 15 publications

View GRCh38 version.




Publications:


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: rs754652044
PubMed Link: 36561320
Variant Present in the following documents:
  • Table2.xlsx, sheet 4
View BVdb publication page



Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Publication Date: 2022-12-01

Variant appearance in text: EGFR: K806E; rs754652044
PubMed Link: 36413997
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



Rationale and design of a phase II trial of dacomitinib in advanced non-small cell lung cancer patients with uncommon epidermal growth factor receptor mutations: a prospective and single arm study (DANCE study).

Bmc Cancer
Zhang, Bo B; Shi, Chunlei C; Gao, Zhiqiang Z; Zhong, Hua H; Xiong, Liwen L; Gu, Aiqin A; Wang, Weimin W; Chu, Tianqing T; Zhang, Wei W; Wang, Huimin H; Zhang, Xueyan X; Zhong, Runbo R; Han, Baohui B
Publication Date: 2022-03-19

Variant appearance in text: EGFR: K806E
PubMed Link: 35305596
Variant Present in the following documents:
  • Main text
  • 12885_2022_Article_9409.pdf
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: K806E
PubMed Link: 35304574
Variant Present in the following documents:
  • 41388_2022_Article_2263.pdf
View BVdb publication page



Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: EGFR: K806E
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 3
View BVdb publication page



Patient specific circulating tumor DNA fingerprints to monitor treatment response across multiple tumors.

Journal Of Translational Medicine
Li, Jiaping J; Jiang, Wei W; Wei, Jinwang J; Zhang, Jianwei J; Cai, Linbo L; Luo, Minjie M; Wang, Zhan Z; Sun, Wending W; Wang, Shengzhou S; Wang, Chen C; Dai, Chun C; Liu, Jun J; Wang, Guan G; Wang, Jiping J; Xu, Qiang Q; Deng, Yanhong Y
Publication Date: 2020-08-01

Variant appearance in text: EGFR: K806E
PubMed Link: 32738923
Variant Present in the following documents:
  • 12967_2020_2449_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



[A Review of EGFR-TKIs Therapy of Non-small Cell Lung Cancer
with Uncommon EGFR Mutations].

Zhongguo Fei Ai Za Zhi = Chinese Journal Of Lung Cancer
Du, Wenxing W; Wo, Yang Y; Lu, Tong T; Wang, Yuanyong Y; Jiao, Wenjie W
Publication Date: 2019-09-20

Variant appearance in text: EGFR: K806E
PubMed Link: 31526464
Variant Present in the following documents:
  • Main text
  • zgfazz-22-9-590.pdf
View BVdb publication page



Formalin fixation increases deamination mutation signature but should not lead to false positive mutations in clinical practice.

Plos One
Prentice, Leah M LM; Miller, Ruth R RR; Knaggs, Jeff J; Mazloomian, Alborz A; Aguirre Hernandez, Rosalia R; Franchini, Patrick P; Parsa, Kourosh K; Tessier-Cloutier, Basile B; Lapuk, Anna A; Huntsman, David D; Schaeffer, David F DF; Sheffield, Brandon S BS
Publication Date: 2018

Variant appearance in text: EGFR: K806E
PubMed Link: 29698444
Variant Present in the following documents:
  • pone.0196434.s001.xlsx, sheet 3
  • pone.0196434.s001.xlsx, sheet 2
View BVdb publication page



Pan-urologic cancer genomic subtypes that transcend tissue of origin.

Nature Communications
Chen, Fengju F; Zhang, Yiqun Y; Bossé, Dominick D; Lalani, Aly-Khan A AA; Hakimi, A Ari AA; Hsieh, James J JJ; Choueiri, Toni K TK; Gibbons, Don L DL; Ittmann, Michael M; Creighton, Chad J CJ
Publication Date: 2017-08-04

Variant appearance in text: EGFR: 2416A>G; K806E
PubMed Link: 28775315
Variant Present in the following documents:
  • 41467_2017_289_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Lung adenocarcinoma patients of young age have lower EGFR mutation rate and poorer efficacy of EGFR tyrosine kinase inhibitors.

Erj Open Research
Wu, Shang-Gin SG; Chang, Yih-Leong YL; Yu, Chong-Jen CJ; Yang, Pan-Chyr PC; Shih, Jin-Yuan JY
Publication Date: 2017-07

Variant appearance in text: EGFR: K806E
PubMed Link: 28717642
Variant Present in the following documents:
  • Main text
View BVdb publication page



Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.

Nature Communications
Cereda, Matteo M; Gambardella, Gennaro G; Benedetti, Lorena L; Iannelli, Fabio F; Patel, Dominic D; Basso, Gianluca G; Guerra, Rosalinda F RF; Mourikis, Thanos P TP; Puccio, Ignazio I; Sinha, Shruti S; Laghi, Luigi L; Spencer, Jo J; Rodriguez-Justo, Manuel M; Ciccarelli, Francesca D FD
Publication Date: 2016-07-05

Variant appearance in text: EGFR: K806E
PubMed Link: 27377421
Variant Present in the following documents:
  • ncomms12072-s6.xlsx, sheet 1
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: EGFR: K806E
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 1
View BVdb publication page



DNA-Mutation Inventory to Refine and Enhance Cancer Treatment (DIRECT): a catalog of clinically relevant cancer mutations to enable genome-directed anticancer therapy.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Yeh, Paul P; Chen, Heidi H; Andrews, Jenny J; Naser, Riyad R; Pao, William W; Horn, Leora L
Publication Date: 2013-04-01

Variant appearance in text: EGFR: K806E
PubMed Link: 23344264
Variant Present in the following documents:
  • Main text
View BVdb publication page



Predicting the functional impact of protein mutations: application to cancer genomics.

Nucleic Acids Research
Reva, Boris B; Antipin, Yevgeniy Y; Sander, Chris C
Publication Date: 2011-09-01

Variant appearance in text: EGFR: K806E
PubMed Link: 21727090
Variant Present in the following documents:
  • supp_gkr407_Supplement2_Table_SM1_COSMIC_mutations.xls, sheet 1
View BVdb publication page



Epidemiology of doublet/multiplet mutations in lung cancers: evidence that a subset arises by chronocoordinate events.

Plos One
Chen, Zhenbin Z; Feng, Jinong J; Buzin, Carolyn H CH; Sommer, Steve S SS
Publication Date: 2008

Variant appearance in text: EGFR: K806E
PubMed Link: 19005564
Variant Present in the following documents:
  • Main text
  • pone.0003714.pdf
View BVdb publication page