|Transcript ID (GRCh37/hg19)||ENST00000281708|
|Genomic Coordinates (GRCh37/hg19)||4:153247287-153247289, 4:153249383-153249385|
|Tumor Type||Primary Site|
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. Codons 465 and 505 are some of the most frequently mutated sites in the FBXW7 gene. FBXW7 is mutated in approximately 15% of small bowel cancers. Preclinical data have suggested that inactivating mutations of FBXW7 could predict sensitivity to the mTOR inhibitor rapamycin; however, the clinical utility remains unknown.
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.