ArticleHereditary cancer in clinical practice2013
Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature review.
Article in Hereditary cancer in clinical practice, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 3 of them syntheses that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Testing strategies for Lynch syndrome in people with endometrial cancer: systematic reviews and economic evaluation.Health technology assessment (Winchester, England) · 2021Pooled it
- The association of low penetrance genetic risk modifiers with colorectal cancer in lynch syndrome patients: a systematic review and meta-analysis.Familial cancer · 2018Pooled it
- Intravesical Recurrence of Upper Tract Urothelial Carcinoma: Strategies for Prevention.Current urology reports · 2026Review
- Immune-epithelial crosstalk governs immune checkpoint inhibitor efficacy in colorectal cancer.iScience · 2026Article
- A Rare Case of Seminoma in an Elderly Patient With Suspected Lynch Syndrome.Clinical case reports · 2026Article
- Optimal upper gastrointestinal surveillance strategies for gastric, small bowel and pancreatic cancer detection in Lynch syndrome.Familial cancer · 2026Review
- Improving care for Lynch syndrome patients: integrating surveillance into England's national bowel cancer screening programme.Familial cancer · 2026Review
- Hereditary Nonpolyposis Colon Cancer (Lynch Syndrome): An Emerging Public Health Concern.Health science reports · 2025Article
- Feasibility and impact of Lynch syndrome genetic testing in newly diagnosed colorectal cancer patients: a multicenter observational study in Greece.ESMO gastrointestinal oncology · 2025Article
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.Clinics in colon and rectal surgery · 2025Review
- Genetic characterization of Lynch syndrome germline variants in a LATAM cohort using a customized NGS gene panel.Frontiers in oncology · 2025Article
- Gut microbiome differences and disease risk in colorectal cancer relatives and healthy individuals.Frontiers in cellular and infection microbiology · 2025Article
- Genetics, diet, microbiota, and metabolome: partners in crime for colon carcinogenesis.Clinical and experimental medicine · 2024Review
- Review
- Genome Engineering as a Therapeutic Approach in Cancer Therapy: A Comprehensive Review.Advanced genetics (Hoboken, N.J.) · 2024Review
- Functional and phenotypic consequences of an unusual inversion in MSH2.Familial cancer · 2024Article
- Clinical predominance of whole-exome sequencing to evaluate microsatellite instability status.Cancer science · 2023Article
- Genome sequencing identifies complex structural MLH1 variant in unsolved Lynch syndrome.Molecular genetics & genomic medicine · 2023Article
- Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lynch syndrome (clinically referred to as HNPCC - Hereditary Non-Polyposis Colorectal Cancer) is a frequent, autosomal, dominantly-inherited cancer predisposition syndrome caused by various germline alterations that affect DNA mismatch repair genes, mainly MLH1 and MSH2. Patients inheriting this predisposition are susceptible to colorectal, endometrial and other extracolonic tumors. It has recently been shown that germline deletions of the last few exons of the EPCAM gene are involved in the etiology of Lynch syndrome. Such constitutional mutations lead to subsequent epigenetic silencing of a neighbouring gene, here, MSH2, causing Lynch syndrome. Thus, deletions of the last few exons of EPCAM constitute a distinct class of mutations associated with HNPCC. Worldwide, several investigators have reported families with EPCAM 3'end deletions. The risk of colorectal cancer in carriers of EPCAM deletions is comparable to situations when patients are MSH2 mutation carriers, and is associated with high expression levels of EPCAM in colorectal cancer stem cells. A lower risk of endometrial cancer was also reported. Until now the standard diagnostic tests for Lynch syndrome have contained analyses such as immunohistochemistry and tests for microsatellite instability of mismatch repair genes. The identification of EPCAM deletions or larger EPCAM-MSH2 deletions should be included in routine mutation screening, as this has implications for cancer predisposition.
Identifiers
What OpenQuestion holds
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.