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FGFR2 N549K
GeneFGFR2
Variantmissense
Amino Acid ChangeN549K
DNA Change (Coding Nucleotide)1647T>A
Transcript ID (GRCh37/hg19)ENST00000358487
Codon549
Exon12
Genomic Coordinates (GRCh37/hg19)10:123258034-123258034
COSMIC ID36912
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 2
FGFR2
Variants
FGFR2 N549K
Primary Sites
Gall Bladder
Liver
Tumor Types
Adenocarcinoma
Interpretation

The receptor tyrosine kinase FGFR2 is one of four fibroblast growth factor receptors designated FGFR1-4 that activate FGF signaling upon trans-autophosphorylation of the receptor dimers. Some genetic alterations of FGFR2 lead to aberrant activation of FGFR2 signaling cascades due to the creation of autocrine signaling loop or the release of FGFR2 from autoinhibition. Activating mutations, including FGFR2 N549K which lies within the protein kinase domain, have been associated with multiple types of malignancies. FGFR2 mutations are more common in tumors of hepatobiliary origin than other solid tumor locations and are found in about 7% of hepatobiliary adenocarcinomas. Treatments with pan-FGFR inhibitors and FGFR2 inhibitors have inhibited proliferation in some tumor types and are under investigation.

Last updated: 2018-06-13 19:01:01 UTC
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Disclaimer: You assume full responsibility for all risks associated with using this PMKB website. The Englander Institute for Precision Medicine at Weill Cornell Medicine makes no guarantee of the comprehensiveness, reliability or accuracy of the information on this website and assumes no responsibility for errors in the information associated with this web site. Healthcare providers and patients must integrate all clinical and laboratory findings as well as information from a variety of sources before deciding on appropriate clinical care options.


When using PMKB, please cite: Huang et al., JAMIA 2017


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