ECDB-Endometrial cancer gene database

REFERENCES

Gene Name	Gene ID	Pubmed ID	Classification	Mechanism	Marker	Type	Normal Cases	Disease Cases	Age	Mean Age	Place	FIGO	Grade	Remark	Title	Journal	Volume	Year
FBXW7	55294	12183400	Endometrioid adenocarcinoma	Mutation	-	Tumor suppressor	15	51	-	-	-	-	-	[1] The hCDC4 gene is mutated in primary human tumors and suggest that it may function as a tumor suppressor in the genesis of many human cancers. [2] the F-box protein hCdc4 that targets cyclin E to the SCF (Skp1-Cull-F-box) protein ubiquitin ligase is mutated in at least 16% of human endometrial tumors. Mutations were found either in the substrate-binding domain of the protein or at the amino terminus; suggesting a critical role for the region of hCdc4 upstream of the F-box. hCDC4 gene mutations were accompanied by loss of heterozygosity and correlated with aggressive disease. The hCDC4 gene is localized to chromosome region 4q32; which is deleted in over 30% of human tumors. [3] hCDC4 gene mutations are significantly corelated with high grade (G3) tumors (P=0.05) and trended toward high-stage tumors (P=0.104).	hCDC4 gene mutations in endometrial cancer.	Cancer Research	62(16):4535-9	2002
FBXW7	55294	14648662	-	Mutation	-	Tumor suppressor	-	8 Atypical endometrioid hyperplasia; 51 endometrioid carcinomas; 22 Non endometrioid carcinomas (3 clear-cell; 11 serous; 4 clear-cell/ serous; 3 endometrioid/ serous; 1 clear-cell/ serous/ endometrioid carcinomas)	-	-	Pathology Department of La Paz Hospital; Madrid	I (n=46); II (n=8); III-IV (n=15)	1 (n=21); 2 (n=16); 3 (n=10)	[1] hCDC4 exhibits a low mutation frequency in ECs overexpressing cyclin E; it seems to function as a tumour suppressor gene that is involved in endometrial carcinogenesis. [2] The tumour with hCDC4 mutation showed LOH of D4S1610.	Cyclin E gene (CCNE) amplification and hCDC4 mutations in endometrial carcinoma	The Journal of Pathology	201(4):589-95	2003