FGFR1 AMPLIFICATION Detail (hg19) (FGFR1)

Information

Genome

Assembly Position
hg19 chr8:38,268,656-38,325,363
hg38 chr8:38,411,138-38,467,845 View the variant detail on this assembly version.
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 136350 OMIM
HGNC 3688 HGNC
Ensembl ENSG00000077782 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
breast cancer Afimoxifene D Predictive Supports Resistance Somatic 3 20179196 Detail
Ewing sarcoma of bone Ponatinib D Predictive Supports Sensitivity/Response N/A 3 26179511 Detail
breast cancer Dovitinib B Predictive Supports Sensitivity/Response N/A 2 23658459 Detail
estrogen-receptor positive breast cancer Ponatinib D Predictive Supports Sensitivity/Response Somatic 3 22238366 Detail
lung squamous cell carcinoma Infigratinib B Predictive Supports Sensitivity/Response N/A 3 27870574 Detail
breast cancer Infigratinib B Predictive Does Not Support Sensitivity/Response 2 27870574 Detail
bladder carcinoma Infigratinib C Predictive Does Not Support Sensitivity/Response N/A 2 27870574 Detail
breast cancer FGFR Inhibitor AZD4547 C Predictive Supports Sensitivity/Response N/A 2 27179038 Detail
lung non-small cell carcinoma Dovitinib B Predictive Supports Sensitivity/Response Somatic 2 27315356 Detail
lung squamous cell carcinoma PD173074 D Predictive Supports Sensitivity/Response Somatic 5 21160078 Detail
lung squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 23182986 Detail
lung squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 3 25086725 Detail
lung non-small cell carcinoma B Prognostic Supports Better Outcome Somatic 2 23806793 Detail
cancer B Prognostic Supports Poor Outcome Somatic 4 25171497 Detail
lung non-small cell carcinoma PD173074 D Predictive Supports Sensitivity/Response Somatic 4 21666749 Detail
lung squamous cell carcinoma B Prognostic Does Not Support Poor Outcome Somatic 4 25433983 Detail
breast cancer Pazopanib C Predictive Supports Sensitivity/Response Somatic 2 29223982 Detail
adenosquamous lung carcinoma Pazopanib C Predictive Supports Sensitivity/Response Somatic 3 24302556 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
FGFR1-amplified breast cancer cell lines show resistance to 4-hydroxytamoxifen, which is reversed by... CIViC Evidence Detail
116 Ewing's sarcoma tumor samples were analyzed in this study. 2 patient's samples underwent whole g... CIViC Evidence Detail
Dovitinib was evaluated in-vitro, in xenograft and in a phase 2 study. Dovitinib inhibited prolifera... CIViC Evidence Detail
In MDA-MB-134 cells (ER-positive breast cancer cells with amplified FGFR1) ponatinib potently inhibi... CIViC Evidence Detail
Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. In the subgroup of ... CIViC Evidence Detail
Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. Among the 26 patien... CIViC Evidence Detail
Phase 1 study of FGFR-inhibitor BGJ398 in advanced cancer with FGFR-aberrations. One patient with FG... CIViC Evidence Detail
Activity of the FGFR-selective inhibitor AZD4547 in FGFR1-amplified breast cancer and FGFR2-amplifie... CIViC Evidence Detail
Clinical trial studied the efficacy of Dovitinib on 26 patients with FGFR1 amplifications. Objective... CIViC Evidence Detail
Preclinical (in-vitro, in-vivo) evidence suggests predictive value of FGFR1 amplification for treatm... CIViC Evidence Detail
In this study in surgically resected squamous cell lung cancer, FGFR1 amplification has been shown a... CIViC Evidence Detail
This study shows an association of FGFR1 amplification with shorter overall and disease-free surviva... CIViC Evidence Detail
This study shows a reduction in the risk of death for patients with FGFR1 copy-number between 4 and ... CIViC Evidence Detail
Meta-Analysis on prognostic value of FGFR1 amplification in different types of cancer shows signific... CIViC Evidence Detail
Preclinical study showing FGFR1 amplification in NSCLC and efficacy of FGFR-1 inhibition in one ampl... CIViC Evidence Detail
Effect of FGFR1 amplification on survival unclear, no significant correlation with PFS and OS seen i... CIViC Evidence Detail
Case report in a HR positive, Her2/neu negative breast cancer patient harboring an FGFR1 amplificati... CIViC Evidence Detail
Patient diagnosed with metastatic squamous cell lung cancer had high-level amplification of FGFR1 an... 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
FGFR1
Genome
hg19
Position
chr8:38,268,656-38,325,363
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
AMPLIFICATION
Transcript 1 (CIViC Variant)
ENST00000425967.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/267
Summary (CIViC Variant)
FGFR1 amplifications are the most common aberrations of the FGFR family in cancer. One study reports FGFR1 aberrations in 3.5% of 4,853 patients of which most are FGFR1 amplifications (Helsten et. al., 2016). Preclinically, FGFR1 amplifications have also been shown to confer sensitivity to FGFR1 inhibitors (Weiss et. al., 2010). Clinical studies are currently ongoing (e.g. NCT01004224).
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