ArticleThe American journal of gastroenterology2011
Lynch syndrome-associated extracolonic tumors are rare in two extended families with the same EPCAM deletion.
Article in The American journal of gastroenterology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 60 citations in OpenAlex.
- Quadruple primary tumors in a lynch syndrome patient surviving more than 26 years with genetic analysis: a case report and literature review.Frontiers in oncology · 2024Article
- Lynch Syndrome Biopathology and Treatment: The Potential Role of microRNAs in Clinical Practice.Cancers · 2023Review
- The genetics of monogenic intestinal epithelial disorders.Human genetics · 2023Review
- Risk-Reducing Bilateral Salpingo-Oophorectomy for Ovarian Cancer: A Review and Clinical Guide for Hereditary Predisposition Genes.JCO oncology practice · 2022Review
- Diagnostics of Mutations in MMR/Diagnostics (Basel, Switzerland) · 2020Review
- Identification of MicroRNA-Related Tumorigenesis Variants and Genes in the Cancer Genome Atlas (TCGA) Data.Genes · 2020Article
- An American patient with polyposis carrying a ScandinavianHereditary cancer in clinical practice · 2020Article
- Toward a better definition of EPCAM deletions in Lynch Syndrome: Report of new variants in Italy and the associated molecular phenotype.Molecular genetics & genomic medicine · 2019Article
- EPCAM mutation update: Variants associated with congenital tufting enteropathy and Lynch syndrome.Human mutation · 2019Article
- Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Nummer 032/034-OL, April 2018) - Part 1 with Recommendations on the Epidemiology, Screening, Diagnosis and Hereditary Factors of Endometrial Cancer.Geburtshilfe und Frauenheilkunde · 2018Article
- Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge.Familial cancer · 2018Review
- Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.The American journal of gastroenterology · 2017Review
- Constitutional epimutation as a mechanism for cancer causality and heritability?Nature reviews. Cancer · 2015Review
- Molecular analysis of Iranian colorectal cancer patients at risk for Lynch syndrome: a new molecular, clinicopathological feature.Journal of gastrointestinal cancer · 2015Article
- Milestones of Lynch syndrome: 1895-2015.Nature reviews. Cancer · 2015Review
- Genetics, biomarkers, hereditary cancer syndrome diagnosis, heterogeneity and treatment: a review.Current treatment options in oncology · 2014Review
- Inversion of exons 1-7 of the MSH2 gene is a frequent cause of unexplained Lynch syndrome in one local population.Familial cancer · 2014Article
- History, genetics, and strategies for cancer prevention in Lynch syndrome.Clinical gastroenterology and hepatology : the official clinical practice journal of the American Gastroenterological Association · 2014Review
- Germline deletions in the EPCAM gene as a cause of Lynch syndrome - literature review.Hereditary cancer in clinical practice · 2013Article
- The history of Lynch syndrome.Familial cancer · 2013Article
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Authors and funding
13 authors at 6 institutions in 2 countries.
Funding
Abstract
objectivesThe Lynch syndrome (LS) is an inherited cancer syndrome showing a preponderance of colorectal cancer (CRC) in context with endometrial cancer and several other extracolonic cancers, which is due to pathogenic mutations in the mismatch repair (MMR) genes, MLH1, MSH2, MSH6, and PMS2. Some families were found to show a LS phenotype without an identified MMR mutation, although there was microsatellite instability and absence of MSH2 expression by immunohistochemistry. Studies of a subset of these families found a deletion at the 3' end of the epithelial cell adhesion molecule (EPCAM) gene, causing transcription read-through resulting in silencing of MSH2 through hypermethylation of its promoter. The tumor spectrum of such families appears to differ from classical LS.
methodsOur study of two large families (USA Family R and Dutch Family A) with an EPCAM deletion was carried out using each institution's standard family study protocol. DNA was extracted from peripheral blood and EPCAM deletion analysis was performed.
resultsBoth families were found to harbor the same deletion at the 3' end of EPCAM. Analysis showed that the deletion originated from a common ancestor. Family R and Family A members showed segregation of CRC with the presence of this EPCAM mutation. Compared with classic LS, there were almost no extracolonic cancers.
conclusionsMembers of Family R and Family A, all with the same EPCAM deletion, predominantly presented with CRC but no LS-associated endometrial cancer, confirming findings seen in other, smaller, LS families with EPCAM mutations. In these EPCAM mutation carriers, cancer surveillance should be focused on CRC.
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