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FBXW7
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FBXW7 R505G
GeneFBXW7
Variantmissense
Amino Acid ChangeR505G
Transcript ID (GRCh37/hg19)ENST00000281708
Codon505
Exon10
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
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Interpretations

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Tier 3
FBXW7
Variants
FBXW7 R505G
Primary Sites
Esophagus
Tumor Types
Squamous Cell Carcinoma
Carcinoma
Adenocarcinoma
Interpretation

FBXW7 is a tumor suppressor gene that is mutated in several tumors including colorectal, liver, bladder and ovarian cancers. It is also mutated in endometrial, esophageal, and head and neck squamous cancers. FBXW7 is a tumor suppressor gene responsible for the degradation of several proto-oncogenes. mTOR is one of the substrates of FBXW7-mediated protein degradation, and loss of function of FBXW7 increases the levels of total and activated mTOR. FBXW7 R505G lies within the WD repeat 4 of the FBXW7 protein. R505G has been identified in the scientific literature, but has not been biochemically characterized and therefore, its effect on FBXW7 protein function is unknown. Preclinical data suggest that FBXW7 mutations may sensitize cells to mTOR inhibitors, however, the response to mTOR inhibitors and the clinicopathologic effects of FBXW7 R505G remains to be further elucidated.

Last updated: 2018-04-02 16:07:40 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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