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FBXW7
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Interpretation 2154
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.

Citations
  1. Jardim, et al. 2014. FBXW7 Mutations in Patients with Advanced Cancers: Clinical and Molecular Characteristics and Outcomes with mTOR Inhibitors. PLoS ONE 9(2).
  2. Gu Z et al.The FBXW7 beta-form is suppressed in human glioma cells. Biochemical and biophysical research communications; 2007. 354(4):992-8
  3. Aydin, et al. FBXW7 Mutations in Melanoma and a New Therapeutic Paradigm. JNCI J Natl Cancer Inst (2014) 106
  4. Uniprot.org
  5. Muller E, et al. Genetic profiles of cervical tumors by high-throughput sequencing for personalized medical care. Cancer Med. 2015 Oct;4(10):1484-93.
  6. Mouw KW, et al. Genomic Evolution after Chemoradiotherapy in Anal Squamous Cell Carcinoma. Clin Cancer Res. 2017 Jun 15;23(12):3214-3222.
Last updated: 2018-04-02 16:07:40 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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