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Entity | Brain cancer |
Note | EFEMP1 was found to be highly expressed in malignant gliomas and in glioma cells with activation of Notch signaling (Hu et al., 2012; Hu et al., 2009). However, EFEMP1 expression is positively associated with survival of patients with the highest grade of glioma - glioblastoma multiforme (GBM) and consistently, EFEMP1 was shown to suppress highly proliferative GBM cell growth in vivo by attenuation of EGFR-AKT signaling activities and VEGFA-induced angiogenesis (Hu et al., 2011). Along with activation of Notch pathway, EFEMP1 was shown to enhance migration/invasion and growth in vivo by glioma cells high in Notch signaling and stem-like feature (Hu et al., 2012). The contradictory roles of EFEMP1 to the growth of different glioma cells suggest EFEMP1 context-dependent function, thus could be an interesting gene to study glioma initiation, progression and tumor heterogeneity. |
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Entity | Breast cancer |
Note | Hypermethylation of EFEMP1 promoter was found to be the major cause of EFEMP1 expression down-regulation in 50-60% sporadic breast cancer (SBC). Tumor suppressive function of EFEMP1 is implicated in SBC by a favorable prognosis effect of EFEMP1 expression to survival, particularly node-positive patients who received adjuvant anthracycline-based chemotherapy, but not in those treated by either cyclophosphamide-methotrexate-5-fluorouracil (CMF) or tamoxifen (Sadr-Nabavi et al., 2009). |
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Entity | Cervical cancer |
Note | EFEMP1 protein expression was found to be significantly higher in cervical carcinoma with lymph node metastasis and correlates with poor patient survival (En-lin et al., 2010). Tumor-promoting effect of EFEMP1 in cervical cancer is supported by its function in promoting growth in vivo and in vitro invasion by cervical cancer cell line Hela (Song et al., 2011). |
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Entity | Colorectal cancer |
Note | Hypermethylation of EFEMP1 promoter was reported in 38,8% colorectal cancer (CRC), which is correlated with downregulation of EFEMP1 expression and cancer progression to advanced pathological stage with lymph node metastasis. Tumor suppressive function of EFEMP1 is implicated in CRC by a favorable prognosis effect of EFEMP1 expression to overall survival and disease-free survival (Tong et al., 2011). |
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Entity | Liver cancer |
Note | Hypermethylation of EFEMP1 promoter was reported in 50% hepatocellular carcinoma (HCC), which is correlated with downregulation of EFEMP1 expression. Tumor suppressive function of EFEMP1 is implicated in liver cancer by unfavorable prognosis from promoter methylation of EFEMP1 (Nomoto et al., 2010). |
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Entity | Lung cancer |
Note | Hypermethylation of EFEMP1 promoter was independently reported by two laboratories in 36% and 43% of non-small cell lung carcinoma (NSCLC), while it was rarely found in the matched normal samples (Wang et al., 2010; Yue et al., 2007; Zhang et al., 2011). It is correlated with downregulation of EFEMP1 expression and cancer progression to advanced pathological stage and lymph node metastasis. Tumor suppressive function of EFEMP1 in lung cancer cell is demonstrated by its suppression effect on anchorage independent growth and in vitro invasion via suppression the expression of matrix metalloproteinase, including MMP2, MMP7, and MMP9 (Kim et al., 2012). |
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Entity | Nasopharyngeal carcinoma |
Note | Hypermethylation of EFEMP1 promoter has been revealed in nasopharyngeal carcinoma (NPC) tumours compared with normal tissues. Downregulation of EFEMP1 expression was found in NPC at advanced lymph node-metastasis stages and a poor 5-year survival rate. Tumor suppressive function of EFEMP1 in NPC is revealed by suppressing migration and invasion of NPC-derived cells and correspondingly decreasing the AKT phosphorylation (Hwang et al., 2010). |
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Entity | Pancreatic cancer |
Note | EFEMP1 was reported to bind EGFR and activate MAPK and AKT pathways in pancreatic carcinoma cells and promote in vivo tumor growth with a stimulation of VEGFA production by tumors (Camaj et al., 2009; Seeliger et al., 2009). |
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Entity | Prostate cancer |
Note | Hypermethylation of EFEMP1 promoter was reported in 95,3% of prostate cancer (PCa) but 13,4% of benign prostate hyperplasia (BPH), and EFEMP1 expression was significantly higher in tissue samples from patients with BPH than in those with PCa (Kim et al., 2011). |
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Entity | Werner syndrome |
Note | S1-5 mRNA is overexpressed in Werner syndrome and senescent human diploid fibroblasts (Lecka-Czernik et al., 1995). |
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Entity | Adult height |
Note | The EFEMP1 locus is one of 20 loci identified in a genome-wide association analysis that influence adult height (Okada et al., 2010). |
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