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
PTEN	5728	9354433	-	Mutation	-	Tumor suppressor	-	70	-	-	Duke University Medical Centre; North Carolina	IA (n=6); IB (n=9); IC (n=4); IIC (n=1); IIIA (n=1); IIIC (n=1); IVB (n=2)	1 (n=16); 2 (n=29); 3 (n= 25)	[1] PTEN/MMAC1 is more commonly mutated than any other known gene in endometrial cancers including K-ras and p53. [2] Somatic mutations were detected in 24 cases (34%) in cluding 21 cases that resulted in premature truncation of the protein; 2 tumors with missense alterations in the conserved phosphatase domain; and 1 tumor with a large insertion.	PTEN/MMAC1 mutations in endometrial cancers	Cancer Research	57(21):4736-8	1997
PTEN	5728	11190805	Endometrioid carcinoma + serous carcinoma+ squamous cell carcinoma + small cell carcinoam + undifferentiated carcinoma	Mutation	-	-	73 endometrial hyperplasia	50 (endometrioid carcinoma) + 4 (serous carcinoma)+ 1 (squamous cell carcinoma) + 1 (small cell carcinoam) + 1 (undifferentiated carcinoma)	-	-	Department of Obsterics and Gynecology; Osaka University; Japan	-	-	[1] The presence of PTEN mutations in hyperplasia suggests that PTEN inactivation may occur as an initiating event in endometrial carcinogenesis and is involved in the development of cytologic atypia in hyperplasia.[2] Mutations in 14 of 57 endometrial carcinomas (13 of 50 endometrioid adenocarcinomas and 1 of 7 nonendometrioid adenocarcinomas) and 7 of 73 endometrial hyperplasias (1 of 24 simple hyperplasias without atypia; none of 16 complex hyperplasias without atypia; and 6 of 33 complex hyperplasias with atypia). Most (88%) mutations were clustered in exons 5; 7; and 8. Of the 24 mutations detected in 21 cases; 12 were frameshifts; 9 were nonsense; 2 were missense; and 1 was a silent mutation.	Mutational analysis of the PTEN gene in endometrial carcinoma and hyperplasia.	American Journal of Clinical Pathology	115(1):32-8	2001
PTEN	5728	11309338	-	Down regulation/ Down expression	-	Tumor suppressor	-	103	-	-	Tottori University Hospital Yonago; Japan	-	-	[1] Of 103 endometrial carcinomas; 37 (36%) showed negative immunohistochemical staining of PTEN. Western blotting revealed that the expression of PTEN in PTEN-negative cases was significantly lower compared with that in positive cases. [2] Loss or decrease of PTEN expression is seen in over 50% of endometrial carcinoma	Correlation between loss of PTEN expression and Akt phosphorylation in endometrial carcinoma.	Clinical Cancer Research	7(4):892-5	2001
PTEN	5728	12790783	-	Down regulation/ Down expression	-	Tumor suppressor	-	103	-	-	-	IIIC (n=55); IV (n=9)	1 (n=21); 2 (n=25); 3 (n=18)	[1] PTEN-positive staining is a significant prognostic indicator of favorable survival for patients with advanced endometrial cancer who undergo postoperative chemotherapy. [2] The survival rate for PTEN-positive patients was significantly higher than that for PTEN-negative or -heterogeneous staining patients. When patients underwent chemotherapy; the survival rate for PTEN-positive cases was clearly higher than that for PTEN-negative or -heterogeneous cases (62.4 vs 11.8%). Subsequent multivariate analysis revealed that PTEN staining was an independent prognostic factor for patients undergoing chemotherapy. [3] The level of PTEN expressionin negative cases was signi?cantly lower than in the positivecases. In contrast; the phospho-Akt level in negative cases was signi?cantly higher. A signi?cantinverse correlation between PTEN and phospho-Akt expression was observed.	Loss of PTEN expression followed by Akt phosphorylation is a poor prognostic factor for patients with endometrial cancer	Endocrine-related Cancer	10(2):203-8	2003
PTEN	5728	18377423	-	Down regulation/ Down expression	-	Tumor suppressor	40 (20 proliferative+ 20 seceretory)	103 (endometrial carcinoma) + 34 atypical hyperplasia (6 simple + 28 complex atypical hyperplasia)	32 to 81	-	Shanghai Jiatong University; Shanghai; China	I-II (n=65); III-IV (n=38)	1 (n=35); 2 (n=38); 3 (n=30)	[1] The development of endometrial carcinoma is associated with an overexpression of NDRG1 and the loss of PTEN expression. [2] Identification of changes in the PTEN expression may be a significant diagnostic tool for the early detection of endometrial carcinoma. [3] Statistical analyzes demonstrated a positive correlation between NDRG1 up-regulation and PTEN down-regulation (P < 0.01). [4] The rate of PTEN loss is 15% in the normal endometrium; 58.82% in the atypical hyperplasia and 86.41% in the endometrial carcinoma.	Correlation between NDRG1 and PTEN expression in endometrial carcinoma.	Cancer Science	99(4):706-10	2008