ArticleGenes, chromosomes & cancer2016
GREM1 and POLE variants in hereditary colorectal cancer syndromes.
Article in Genes, chromosomes & cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 46 citations in OpenAlex.
- SEOM-GETTHI clinical guideline for the practical management of molecular platforms (2021).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2022Guideline
- Collaborative Group of the Americas on Inherited Gastrointestinal Cancer Position statement on multigene panel testing for patients with colorectal cancer and/or polyposis.Familial cancer · 2020Guideline
- SEOM‑GETTHI clinical guideline for the practical management of molecular platforms (update 2026).Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Article
- Genetic regulation of the estrogen receptor and inherited predisposition to breast cancer.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Genetic predisposition to polyposis syndromes.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2025Review
- BMP signalling in colorectal cancer: losing the yin to WNTs yang.The Journal of pathology · 2025Review
- Gremlin1: a BMP antagonist with therapeutic potential in Oncology.Investigational new drugs · 2024Review
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Hereditary Colorectal Cancer Syndromes: Molecular Genetics and Precision Medicine.Biomedicines · 2022Review
- The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management.Familial cancer · 2022Article
- How many is too many? Polyposis syndromes and what to do next.Current opinion in gastroenterology · 2022Review
- Evaluation of Classic, Attenuated, and Oligopolyposis of the Colon.Gastrointestinal endoscopy clinics of North America · 2022Review
- Review
- SNPs associated with colorectal cancer at 15q13.3 affect risk enhancers that modulate GREM1 gene expression.Human mutation · 2021Article
- Role of POLE and POLD1 in familial cancer.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Candidate Gene Discovery in Hereditary Colorectal Cancer and Polyposis Syndromes-Considerations for Future Studies.International journal of molecular sciences · 2020Review
- Spectrum of germline cancer susceptibility gene mutations in Turkish colorectal cancer patients: a single center studyTurkish journal of medical sciences · 2020Article
- Current status of the genetic susceptibility in attenuated adenomatous polyposis.World journal of gastrointestinal oncology · 2019Review
- GREM2 maintains stem cell-like phenotypes in gastric cancer cells by regulating the JNK signaling pathway.Cell cycle (Georgetown, Tex.) · 2019Article
- Low frequency of POLD1 and POLE exonuclease domain variants in patients with multiple colorectal polyps.Molecular genetics & genomic medicine · 2019Article
Corrections and comments
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Authors and funding
12 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary factors are thought to play a role in at least one third of patients with colorectal cancer (CRC) but only a limited proportion of these have mutations in known high-penetrant genes. In a relatively large part of patients with a few or multiple colorectal polyps the underlying genetic cause of the disease is still unknown. Using exome sequencing in combination with linkage analyses together with detection of copy-number variations (CNV), we have identified a duplication in the regulatory region of the GREM1 gene in a family with an attenuated/atypical polyposis syndrome. In addition, 107 patients with colorectal cancer and/or polyposis were analyzed for mutations in the candidate genes identified. We also performed screening of the exonuclease domain of the POLE gene in a subset of these patients. The duplication of 16 kb in the regulatory region of GREM1 was found to be disease-causing in the family. Functional analyses revealed a higher expression of the GREM1 gene in colorectal tissue in duplication carriers. Screening of the exonuclease domain of POLE in additional CRC patients identified a probable causative novel variant c.1274A>G, p.Lys425Arg. In conclusion a high penetrant duplication in the regulatory region of GREM1, predisposing to CRC, was identified in a family with attenuated/atypical polyposis. A POLE variant was identified in a patient with early onset CRC and a microsatellite stable (MSS) tumor. Mutations leading to increased expression of genes can constitute disease-causing mutations in hereditary CRC syndromes.
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