scholarly journals EPCAM Gene

2020 ◽  
Author(s):  
Keyword(s):  
Epcam Gene

A Novel Nonsense Mutation in the EpCAM Gene in a Patient With Congenital Tufting Enteropathy

2014 ◽  
Vol 58 (1) ◽  
pp. 18-21 ◽  
Author(s):  
Cornelia Thoeni ◽  
Achiya Amir ◽  
Conghui Guo ◽  
S. Zhang ◽  
Yaron Avitzur ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Epcam Gene

scholarly journals Ovarian metastases from ileum cancer in a patient with germline EPCAM gene deletion successfully treated with surgical resection and CAPOX chemotherapy: a case report

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Narushi Iwata ◽  
Ayumi Shikama ◽  
Wataru Takao ◽  
Yoshihiko Hosokawa ◽  
Hiroya Itagaki ◽  
...  
Keyword(s):  
Case Report ◽  
Surgical Resection ◽  
Gene Deletion ◽  
Ovarian Metastases ◽  
Epcam Gene

scholarly journals rs62139665 Polymorphism in the Promoter Region of EpCAM Is Associated With Hepatitis C Virus-Related Hepatocellular Carcinoma Risk in Egyptians

2022 ◽  
Vol 11 ◽  
Author(s):  
Tarek Mohamed Kamal Motawi ◽  
Nermin Abdel Hamid Sadik ◽  
Dina Sabry ◽  
Sally Atef Fahim ◽  
Nancy Nabil Shahin
Keyword(s):  
Hepatocellular Carcinoma ◽  
Hepatitis C Virus ◽  
Hepatitis C ◽  
Protein Expression ◽  
Diagnostic Accuracy ◽  
Promoter Region ◽  
Stem Cell Marker ◽  
Expression Levels ◽  
Gene And Protein Expression ◽  
Epcam Gene

Hepatocellular carcinoma (HCC) is a universal health problem that is particularly alarming in Egypt. The major risk factor for HCC is hepatitis C virus (HCV) infection which is a main burden in Egypt. The epithelial cell adhesion molecule (EpCAM) is a stem cell marker involved in the tumorigenesis and progression of many malignancies, including HCC. We investigated the association of -935 C/G single nucleotide polymorphism in EpCAM promoter region (rs62139665) with HCC risk, EpCAM expression and overall survival in Egyptians. A total of 266 patients (128 HCV and 138 HCC cases) and 117 age- and sex-matched controls participated in this study. Genotyping, performed using allelic discrimination and confirmed by sequencing, revealed a significant association between EpCAM rs62139665 and HCC susceptibility, with higher GG genotype and G allele distribution in HCC patients than in non-HCC subjects. Such association was not detected in HCV patients compared to controls. EpCAM gene expression levels, determined in blood by RT-qPCR, and its serum protein expression levels, determined by ELISA, were significantly higher in GG relative to GC+CC genotype carriers in HCV and HCC patients in a recessive model. ROC analysis of EpCAM protein levels revealed significant discriminatory power between HCC patients and non-HCC subjects, with improved diagnostic accuracy when combining α-fetoprotein and EpCAM compared to that of α-fetoprotein alone. Altogether, EpCAM rs62139665 polymorphism is significantly associated with HCC and with EpCAM gene and protein expression levels in the Egyptian population. Moreover, serum EpCAM levels may hold promise for HCC diagnosis and for improving the diagnostic accuracy of α-fetoprotein.

250 Large Deletion in the EPCAM Gene Responsible for the Milder Phenotype of Congenital Tufting Enteropathy

2015 ◽  
Vol 148 (4) ◽  
pp. S-57
Author(s):  
Jurgen Gerada ◽  
Christian Saliba ◽  
Ruth Galdies ◽  
Wilhelmina Cassar ◽  
Victor Mercieca ◽  
...  
Keyword(s):  
Large Deletion ◽  
Epcam Gene

Analysis of EPCAM Protein Expression in Diagnostics of Lynch Syndrome

2011 ◽  
Vol 29 (2) ◽  
pp. 223-227 ◽  
Author(s):  
Matthias Kloor ◽  
Anita Y. Voigt ◽  
Hans K. Schackert ◽  
Peter Schirmacher ◽  
Magnus von Knebel Doeberitz ◽  
...  
Keyword(s):  
Lynch Syndrome ◽  
Protein Expression ◽  
Cell Adhesion Molecule ◽  
Immunohistochemical Analysis ◽  
Msh2 Gene ◽  
Epithelial Cell Adhesion Molecule ◽  
Epcam Expression ◽  
Dna Mismatch ◽  
Epcam Gene ◽  
Dependent Probe

Purpose Lynch syndrome is an inherited tumor predisposition syndrome caused by germline mutations of DNA mismatch repair (MMR) genes, mainly MLH1 and MSH2. Recently, germline deletions affecting the epithelial cell adhesion molecule (EPCAM) gene located upstream of MSH2 were identified as a novel mutational mechanism causing Lynch syndrome by epigenetic inactivation of the respective MSH2 allele. Immunohistochemical analysis of MMR protein expression is a hallmark of Lynch syndrome diagnostics, but it cannot distinguish between EPCAM deletion carriers and MSH2 mutation carriers. We hypothesized that EPCAM protein expression might be altered in tumors from patients with a germline EPCAM deletion. Patients and Methods Immunohistochemistry was used to assess EPCAM expression in Lynch syndrome–associated MSH2-negative tumors (n = 26). Multiplex ligation-dependent probe amplification (MLPA) analysis was performed to detect germline deletions of the EPCAM and MSH2 gene loci. Results In four MSH2-negative tumors, a concomitant lack of EPCAM expression was detected. MLPA analysis revealed heterozygous EPCAM deletions in all patients with EPCAM-negative tumors. In contrast, EPCAM expression was positive in all cancers from patients with germline alterations affecting MSH2 but not EPCAM. Two EPCAM deletions were detected in patients with an EPCAM-positive tumor. Conclusion These results indicate that loss of EPCAM protein expression is frequent in tumors from patients with EPCAM germline deletions. EPCAM immunohistochemistry therefore represents a promising novel tool for the identification of Lynch syndrome patients with EPCAM germline deletions.

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