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FBXW7 S227A - Gene Variant Detail

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Gene FBXW7
Variant S227A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions FBXW7 S227A lies within a phosphorylation site in the Fbxw7 protein (PMID: 21147854). S227A confers a loss of function to the Fbxw7 protein as demonstrated by the inability of S227A to induce apoptosis (PMID: 21620836), and reduced degradation of c-Myc and Notch1 intracellular domain relative to wild-type Fbxw7 in culture due to the loss of phosphorylation by Sgk1 (PMID: 21147854).
Associated Drug Resistance
Category Variants Paths

FBXW7 mutant FBXW7 inact mut FBXW7 S227A

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Transcript NM_033632.3
gDNA chr4:g.152346977A>C
cDNA c.679T>G
Protein p.S227A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047415900.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_047415898.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532085.2 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_024454124.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
NM_033632 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_024454123.2 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_047415901.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_047415899.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532084 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_017008362 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_024454123.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_024454121.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532083 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532084.2 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_047415897.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
NM_001349798.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532085.3 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_024454122.1 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532084.3 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
NM_033632.3 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
NM_001349798.2 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38
XM_011532085 chr4:g.152346977A>C c.679T>G p.S227A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
FBXW7 inact mut hematologic cancer sensitive Belinostat Preclinical Actionable In a preclinical study, Beleodaq (belinostat) inhibited human hematologic cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor resistant Docetaxel Preclinical Actionable In a preclinical study, human cancer cell lines harboring FBXW7 inactivating mutations were resistant to docetaxel in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor sensitive REC-2282 Preclinical Actionable In a preclinical study, REC-2282 (AR-42) inhibited human cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor sensitive Entinostat Preclinical Actionable In a preclinical study, entinostat (MS-275) inhibited cancer cells from advanced solid tumors and hematological cells harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut breast cancer sensitive Sirolimus Preclinical - Cell line xenograft Actionable In a preclinical study, breast cancer cells harboring a FBXW7 mutation demonstrated sensitivity to Rapamune (sirolimus) in culture and in cell line xenograft models (PMID: 18787170). 18787170
FBXW7 inact mut hematologic cancer sensitive REC-2282 Preclinical Actionable In a preclinical study, REC-2282 (AR-42) inhibited human hematologic cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut hematologic cancer sensitive Entinostat Preclinical Actionable In a preclinical study, entinostat (MS-275) inhibited cancer cells from advanced solid tumors and hematological cells harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 inact mut Advanced Solid Tumor sensitive Belinostat Preclinical Actionable In a preclinical study, Beleodaq (belinostat) inhibited human cancer cell lines harboring FBXW7 inactivating mutations in culture (PMID: 23274910). 23274910
FBXW7 mutant Her2-receptor negative breast cancer predicted - sensitive LY3039478 Case Reports/Case Series Actionable In a Phase I trial, LY3039478 treatment resulted in partial response lasted 9.5 months in a patient with hormone receptor-positive, Erbb2 (Her2)-negative breast cancer harboring FBXW7 mutation (PMID: 30060061; NCT01695005). 30060061