ArticleFamilial cancer2019
Identification of a novel GREM1 duplication in a patient with multiple colon polyps.
Article in Familial cancer, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 22 citations in OpenAlex.
- Expression of bone morphogenetic protein signaling pathway players in the jejunum and colon of adult rats.European journal of histochemistry : EJH · 2025Article
- Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.Gastrointestinal endoscopy clinics of North America · 2022Review
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Alterations to Genome Organisation in Stem Cells, Their Differentiation and Associated Diseases.Results and problems in cell differentiation · 2022Article
- Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.Hereditary cancer in clinical practice · 2021Review
- SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression.Human mutation · 2021Article
- Novel Genetic Causes of Gastrointestinal Polyposis Syndromes.The application of clinical genetics · 2021Review
- Extracellular BMP Antagonists, Multifaceted Orchestrators in the Tumor and Its Microenvironment.International journal of molecular sciences · 2020Review
- Incorporating Colorectal Cancer Genetic Risk Assessment into Gastroenterology Practice.Current treatment options in gastroenterology · 2019Review
- Gastrointestinal Polyposis in Pediatric Patients.Journal of pediatric gastroenterology and nutrition · 2019Review
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Hereditary mixed polyposis syndrome (HMPS) is a hereditary syndrome that is characterized by multiple colon polyps of mixed pathologic subtypes and an increased risk for colorectal cancer. A 40 kb duplication in the 5' regulatory region of the GREM1 gene was recently found to be the causal mutation in a subset of Ashkenazi Jewish families with HMPS. Given this discovery, the GREM1 5' regulatory region is now analyzed on many different multi-gene cancer panels, however the data on duplications distinct from the 40 kb duplication remains minimal. Herein we report a novel 24 kb tandem duplication of the 5' regulatory region of GREM1 in a patient without Ashkenazi Jewish heritage, who had a family history that was concerning for Lynch syndrome and satisfied Amsterdam II criteria. This is only the third reported GREM1 duplication separate from the 40 kb Ashkenazi Jewish duplication, and is the only reported duplication to selectively involve exon 1 of GREM1. This finding supports comprehensive testing of the GREM1 regulatory region in families of all ethnicities with multiple colon polyps or colon cancer, and when Lynch syndrome is suspected.
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