Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Previous loss-of-heterozygosity studies in endometrial carcinoma mapped a putative tumor suppressor gene to 10q25.3-26.1. An analysis of genomic sequences for the deletion interval showed several expressed sequence tags and the homeodomain gene EMX2, a homologue of Drosophila melanogaster empty spiracles. Expression studies showed that EMX2 transcripts are abundant in the adult uterus and that message levels seem to be inversely correlated with endometrial proliferation. EMX2 RNA was more abundant in quiescent postmenopausal endometrium than in premenopausal endometrium. We found decreased EMX2 expression in a subset of primary endometrial tumors, and four of six endometrial cancer cell lines investigated failed to express EMX2. The predicted protein showed extensive amino acid conservation with EMX2 sequences from several vertebrates. There was also considerable evolutionary conservation in the 3' untranslated region. To examine the potential function of EMX2 in endometrial tumorigenesis, we investigated 20 primary tumors and 6 endometrial cancer cell lines for mutations. Two primary tumors had mutations. Inactivation or reduced expression of EMX2 in cancers, coupled with increased expression in the quiescent endometrium, indicate that this homeodomain gene is involved in maintenance of the differentiated state.
 ...
PMID:Characterization of the homeodomain gene EMX2: sequence conservation, expression analysis, and a search for mutations in endometrial cancers. 1154 15

Endometriosis has a genetic component, and significant linkage has been found to a region on chromosome 10q. Two candidate genes, EMX2 and PTEN, implicated in both endometriosis and endometrial cancer, lie on chromosome 10q. We hypothesized that variation in EMX2 and/or PTEN could contribute to the risk of endometriosis and may account for some of the linkage signal on 10q. We genotyped single nucleotide polymorphisms (SNPs) in a case-control design to evaluate association between endometriosis and common variations in these two genes. The genotyping and statistical analysis were based on samples collected from Australian volunteers. The cases were 768 unrelated women with surgically confirmed endometriosis selected from affected sister pair (ASP) families participating in the Australian Genes behind Endometriosis Study. The controls were 768 female participants in twin studies who, based on screening questions, did not have a diagnosis of endometriosis. Genotypes of 22 SNPs in the EMX2 gene and 15 SNPs in the PTEN gene were the main outcome measures. Statistical analysis provided measures of linkage disequilibrium and association. Permutation testing showed no globally significant association between any SNPs or haplotypes and endometriosis for either gene. It is unlikely that the EMX2 or PTEN gene variants investigated contribute to risk for initiation and/or development of endometriosis.
 ...
PMID:Variants in EMX2 and PTEN do not contribute to risk of endometriosis. 1756 3

EMX2 (the human homologue of Drosophila empty spiracles gene 2) is a candidate tumor suppressor. However, its roles in endometrial cancer are still unknown. In this study, we evaluated EMX2 expression in different subtypes of endometrial cancer and its relationships with clinicopathologic characteristics. By immunohistochemical staining, we investigated the level of EMX2 protein in 122 endometrial cancer and 25 normal endometrium tissues. Correlations between EMX2 expression and clinicopathologic features of patients were analyzed using a statistical software. Compared with the normal endometrium, the expression of EMX2 was significantly downregulated in endometrial cancer tissues (P< 0.001). Reduced EMX2 expression was correlated with the tumor stage (P = 0.023), grade (P = 0.016), and the depth of myometrial invasion (P = 0.04), but not with age, pathologic subtype, lymph node metastasis, lymph vascular space invasion, or ER/PR/p53 status. Downregulation of EMX2 was associated with tumor progression and may be a critical factor in the carcinogenesis and progression of endometrial cancer, which provided a novel therapeutic target and a potential marker for prognostic prediction.
 ...
PMID:EMX2 is downregulated in endometrial cancer and correlated with tumor progression. 2337 Jun 54