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FBXW7
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FBXW7 R479Q
GeneFBXW7
Variantmissense
Amino Acid ChangeR479Q
Transcript ID (GRCh37/hg19)ENST00000281708
Codon479
Exon10
Germline/Somatic?Somatic
Pertinent Negative In
Tumor TypePrimary Site
See All Pertinent Negatives

Interpretations

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Tier 3
FBXW7
Variants
FBXW7 R479Q
FBXW7 D761N
Primary Sites
Breast
Lung
Colon
Stomach
Rectum
Endometrium
Tumor Types
Adenocarcinoma
Interpretation

FBXW7 is a tumor suppressor gene that is mutated in several tumors including colorectal, liver, bladders and ovarian cancers. It is also mutated in endometrial and head and neck squamous cancers. Preclinical data suggest that FBXW7 mutations may sensitize cells to mTOR inhibitors.

Last updated: 2016-06-05 02:49:13 UTC
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Tier 3
FBXW7
Variants
FBXW7 R479Q
FBXW7 D761N
Primary Sites
Skin
Tumor Types
Melanoma
Interpretation

FBXW7 is a tumor suppressor gene and is responsible for ubiquitination and turnover of several oncoprotiens. Loss-of-function mutations of FBXW7 lead to constitutive NOTCH1 pathway activation via inhibition of ubiquitin-mediated degradation of activated NOTCH1 and MYC. FBXW7 mutations have been reported in ~3-8% of melanomas. Preclinical data suggest that FBXW7 mutations sensitize cells to mTOR inhibitors. However, advanced tumors with somatic FBXW7 mutations and other concurrent molecular alterations might have limited therapeutic response to mTOR inihibitors. Correlation with other clinical and laboratory findings is recommended.

Last updated: 2017-04-10 18:33:50 UTC
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Tier 2
FBXW7
Variants
FBXW7 R479Q
FBXW7 codon(s) 505, 465 missense
Primary Sites
Pancreas
Tumor Types
Adenocarcinoma
Interpretation

FBXW7 is a tumor suppressor gene that is mutated in several tumors including colorectal, liver, bladders and ovarian cancers. It is also mutated in endometrial and head and neck squamous cancers. FBXW7 mutations are rare in pancreatic adenocarcinoma and are present in less than 1% of tumors. Preclinical data suggest that FBXW7 mutations may sensitize cells to mTOR inhibitors. The full pathologic significance of FBXW7 mutations in pancreatic adenocarcinoma remains to be more fully elucidated.

Last updated: 2018-03-12 15:41:42 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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