EGFR AMPLIFICATION Detail (hg38) (EGFR)

Information

Genome

Assembly Position
hg19 chr7:55,086,794-55,279,321 View the variant detail on this assembly version.
hg38 chr7:55,019,101-55,211,628
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 131550 OMIM
HGNC 3236 HGNC
Ensembl ENSG00000146648 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
lung non-small cell carcinoma Osimertinib,Rociletinib D Predictive Supports Resistance Somatic 3 28202511 Detail
Barrett's adenocarcinoma B Prognostic Supports Poor Outcome Somatic 3 20840671 Detail
cervical squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 3 21730982 Detail
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 16943533 Detail
head and neck squamous cell carcinoma Fluorouracil,Platinum Compound,Cetuximab B Predictive Does Not Support Sensitivity/Response Somatic 4 21048039 Detail
colorectal cancer Panitumumab,Cetuximab B Predictive Supports Sensitivity/Response Somatic 3 24653627 Detail
colorectal cancer Cetuximab B Predictive Supports Sensitivity/Response Somatic 3 18794099 Detail
lung non-small cell carcinoma Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor B Predictive Supports Sensitivity/Response Somatic 4 20826716 Detail
lung non-small cell carcinoma Erlotinib,Gefitinib B Predictive Does Not Support Sensitivity/Response Somatic 2 26722081 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
Evidence of wild-type allele-mediated resistance, a novel concept of acquired resistance in response... CIViC Evidence Detail
In patients with Barrett's adenocarcinoma, those with amplification of EGFR had shorter disease-spec... CIViC Evidence Detail
In patients with cervical squamous cell carcinoma, those with gene amplification of EGFR had worse o... CIViC Evidence Detail
The group of 43 out of 75 tumor samples with increased copy number or amplification of EGFR as deter... CIViC Evidence Detail
EGFR amplification was not a predictor of response to cetuximab/5-FU/platinum in patients with recur... CIViC Evidence Detail
In this meta-analysis (14 studies, 1021 patients), EGFR gene copy number (GCN) was predictive of imp... CIViC Evidence Detail
87 patients with metastatic colorectal cancer treated with cetuximab were retrospectively analyzed f... CIViC Evidence Detail
A meta-analysis of EGFR gene copy number as a predictive biomarker for patients receiving tyrosine k... CIViC Evidence Detail
In 290 patients with advanced NSCLC, 177 of which were treated with EGFR TKI (erlotinib or gefitinib... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
EGFR
Genome
hg38
Position
chr7:55,019,101-55,211,628
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
AMPLIFICATION
Transcript 1 (CIViC Variant)
ENST00000275493.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/190
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