Gene Variant Detail

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Gene FGFR2
Variant R6P
Impact List missense
Protein Effect unknown
Gene Variant Descriptions FGFR2 R6P does not lie within any known domains of the Fgfr2 protein (UniProt.org). R6P has been identified in sequencing studies (PMID: 30286143), but has not been biochemically characterized and therefore, its effect on Fgfr2 protein function is unknown (PubMed, May 2020).
Associated Drug Resistance

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Transcript NM_000141
gDNA chr10:g.121593801C>G
cDNA c.17G>C
Protein p.R6P
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_001320658 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144916 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144917 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_022970 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144915 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_023029 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144914 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144919 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144913 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_000141 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38
NM_001144918 chr10:g.121593801C>G c.17G>C p.R6P RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FGFR2 mutant Advanced Solid Tumor predicted - sensitive Debio 1347 Phase I Actionable In a Phase I trial, Debio 1347 treatment resulted in partial response in 10.5% (6/57) and stable disease in 28.1% (16/57) of patients with advanced solid tumors harboring genomic alterations of FGFR1/2/3, including amplifications, fusions, and mutations (PMID: 30745300; NCT01948297). 30745300
FGFR2 mutant transitional cell carcinoma sensitive Erdafitinib FDA approved - Has Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR2 mutant transitional cell carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). detail...
FGFR2 mutant cholangiocarcinoma predicted - sensitive Erdafitinib Phase I Actionable In a Phase I trial, Balversa (erdafitinib) treatment resulted in an objective response rate of 27% (3/11) in patients with cholangiocarcinoma harboring FGFR genomic alterations, including 1 with FGFR2 mutation, 2 with FGFR3 mutations, and 8 with FGFR2 fusions (PMID: 31088831; NCT01703481). 31088831
FGFR2 mutant endometrial cancer sensitive PRN1371 Preclinical - Cell culture Actionable In a preclinical study, PRN1371 inhibited proliferation of endometrial cancer cells harboring FGFR2 mutations in culture (AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 1249). detail...
FGFR2 mutant endometrial cancer sensitive Infigratinib Preclinical Actionable In a preclinical study, Infigratinib (BGJ398) inhibited the growth of FGFR2-mutated endometrial cancer cells in vitro and in xenograft models (PMID: 23443805). 23443805
FGFR2 mutant bladder urothelial carcinoma sensitive Erdafitinib FDA approved - Has Companion Diagnostic Actionable In a Phase II trial (BCL2001) that supported FDA approval, Balversa (erdafitinib) treatment resulted in an objective response rate of 40% (40/99, 3 complete response, 37 partial response) and a disease control rate of 80% in patients with metastatic or unresectable urothelial carcinoma harboring FGFR alterations (PMID: 31340094; NCT02365597). detail... 31340094 detail...
FGFR2 mutant bladder urothelial carcinoma sensitive Erdafitinib Guideline Actionable Balversa (erdafitinib) is included in the guidelines for patients with advanced or metastatic urothelial carcinoma harboring Fgfr2 alterations after progression on platinum-based regimens (NCCN.org). detail...
FGFR2 mutant cholangiocarcinoma sensitive Infigratinib Case Reports/Case Series Actionable In a Phase I trial, a patient with cholangiocarcinoma harboring an FGFR2 mutation demonstrated a decreased tumor burden when treated with Infigratinib (BGJ398) (PMID: 27870574). 27870574
FGFR2 mutant Advanced Solid Tumor sensitive Pemigatinib Preclinical - Cell culture Actionable In a preclinical study, a variety of cancer cell lines harboring mutations in FGFR1, FGFR2, and/or FGFR3 demonstrated sensitivity to Pemazyre (pemigatinib) in culture and in cell line xenograft models, resulting in inhibition of tumor growth (Cancer Res 2015;75(15 Suppl):Abstract nr 771). detail...
Molecular Profile Protein Effect Treatment Approaches
FGFR2 R6P unknown