ArticleHuman mutation2019
EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.
Article in Human mutation, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
51 citing papers in PubMed, 79 citations in OpenAlex.
- Trop-1/EpCAM Thr115 is a driver of hyperproliferative cell repair and of severe lung damage in COVID-19.iScience · 2026Article
- Genotype-phenotype correlations inFrontiers in pediatrics · 2026Article
- Article
- Landscape of cancer associated EpCAM mutations: molecular modeling, predictive insights and impact on patient survival.BMC cancer · 2025Article
- Paediatric Congenital Enteropathies: Clinical and Histological Review.Diagnostics (Basel, Switzerland) · 2025Review
- Ionizing Radiation May Induce Tumors Partly Through the Alteration or Regulation of Mismatch Repair Genes.Cancers · 2025Review
- Colorectal cancers associated with mismatch repair deficiency.Frontiers in medicine · 2025Review
- Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.Frontiers in oncology · 2025Article
- Congenital Diarrhoeas and Enteropathies.Nutrients · 2024Review
- Pediatric Chronic Intestinal Failure: Something Moving?Nutrients · 2024Review
- Three patients with new mutations in theTranslational pediatrics · 2024Article
- Oncological characteristics, treatments and prognostic outcomes in MMR-deficient colorectal cancer.Biomarker research · 2024Review
- Breaking Down Barriers: Epithelial Contributors to Monogenic IBD Pathogenesis.Inflammatory bowel diseases · 2024Review
- Whole exome sequencing reveal 83 novel Mendelian disorders carrier P/LP variants in Chinese adult patients.Journal of human genetics · 2023Article
- Early-onset tufting enteropathy in HAI-2-deficient mice is independent of matriptase-mediated cleavage of EpCAM.Development (Cambridge, England) · 2023Article
- Article
- Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Development and external validation of a multiparametric MRI-based radiomics model for preoperative prediction of microsatellite instability status in rectal cancer: a retrospective multicenter study.European radiology · 2023Article
- Congenital Tufting Enteropathy, a Rare Cause of Diarrhea and Malnourishment in Arab Child with Genetic and Histopathology Investigations.Case reports in pediatrics · 2023Article
Corrections and comments
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Authors and funding
21 authors at 14 institutions in 7 countries.
Funding
Abstract
The epithelial cell adhesion molecule gene (EPCAM, previously known as TACSTD1 or TROP1) encodes a membrane-bound protein that is localized to the basolateral membrane of epithelial cells and is overexpressed in some tumors. Biallelic mutations in EPCAM cause congenital tufting enteropathy (CTE), which is a rare chronic diarrheal disorder presenting in infancy. Monoallelic deletions of the 3' end of EPCAM that silence the downstream gene, MSH2, cause a form of Lynch syndrome, which is a cancer predisposition syndrome associated with loss of DNA mismatch repair. Here, we report 13 novel EPCAM mutations from 17 CTE patients from two separate centers, review EPCAM mutations associated with CTE and Lynch syndrome, and structurally model pathogenic missense mutations. Statistical analyses indicate that the c.499dupC (previously reported as c.498insC) frameshift mutation was associated with more severe treatment regimens and greater mortality in CTE, whereas the c.556-14A>G and c.491+1G>A splice site mutations were not correlated with treatments or outcomes significantly different than random simulation. These findings suggest that genotype-phenotype correlations may be useful in contributing to management decisions of CTE patients. Depending on the type and nature of EPCAM mutation, one of two unrelated diseases may occur, CTE or Lynch syndrome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.