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FGFR1 T141R
GeneFGFR1
Variantmissense
Amino Acid ChangeT141R
Transcript ID (GRCh37/hg19)ENST00000425967
Codon141
Exon4
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 3
FGFR1
Variants
FGFR1 T141R
Primary Sites
Lung
Tumor Types
Adenocarcinoma
Interpretation

FGFR1 is a receptor tyrosine kinase activated upon binding of the FGF ligand, which activates RAS-MAPK and PI3K-AKT pathways. Altered function of FGFR1 in cancer may lead to increased cell proliferation and decreased apoptosis. The most common alteration of FGFR1 in lung adenocarcinoma is amplification and point mutations are rare (1% of cases). FGFR1 T141R does not lie within any known functional domains of the FGFR1 protein. T141R has been identified in sequencing studies, but has not been biochemically characterized and therefore, its effect on protein function is unknown. T141R has been reported as a somatic mutation in one case of lung adenocarcinoma in the literature. The clinicopathologic significance of FGFR1 T141R remains to be further elucidated.

Last updated: 2018-03-30 16:11:14 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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