ArticlePloS one2013
Germline Mutations in the Polyposis-Associated Genes BMPR1A, SMAD4, PTEN, MUTYH and GREM1 Are Not Common in Individuals with Serrated Polyposis Syndrome.
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 2 of them syntheses that pooled it.
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Who cites it
20 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- British Society of Gastroenterology position statement on serrated polyps in the colon and rectum.Gut · 2017Guideline
- A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.Genetics in medicine : official journal of the American College of Medical Genetics · 2015Guideline
- Knowledge gaps in tubular gut tumours: a critical appraisal of the 6th edition of the World Health Organization classification of tumours.The Journal of pathology · 2026Review
- Serrated Polyposis Syndrome: A Narrative Review from Clinical Recognition to Risk-Adapted Cancer Prevention.International journal of general medicine · 2026Review
- Germline pathogenic variants in HIC1 DNA binding domains are associated with familial serrated polyposis syndrome.International journal of cancer · 2025Article
- Germline Variants in DNA Interstrand-Cross Link Repair Genes May Contribute to Increased Susceptibility for Serrated Polyposis Syndrome.International journal of molecular sciences · 2024Article
- Inherited BRCA1 and RNF43 pathogenic variants in a familial colorectal cancer type X family.Familial cancer · 2024Article
- Germline mutations inJournal of medical genetics · 2023Article
- Unraveling the impact of a germline heterozygousFrontiers in molecular biosciences · 2023Article
- Article
- Germline variant testing in serrated polyposis syndrome.Journal of gastroenterology and hepatology · 2022Article
- Article
- Hereditary or Not? Understanding Serrated Polyposis Syndrome.Current treatment options in gastroenterology · 2019Review
- Hereditary Colorectal Polyposis and Cancer Syndromes: A Primer on Diagnosis and Management.The American journal of gastroenterology · 2017Review
- Clinical predictors for sessile serrated polyposis syndrome: A case control study.World journal of gastrointestinal endoscopy · 2017Article
- Gastrointestinal tract cancers: Genetics, heritability and germ line mutations.Oncology letters · 2017Article
- Advances in Hereditary Colorectal and Pancreatic Cancers.Clinical therapeutics · 2016Review
- Defining the polyposis/colorectal cancer phenotype associated with the Ashkenazi GREM1 duplication: counselling and management recommendations.Genetics research · 2016Article
- Genetic predisposition to colorectal cancer: where we stand and future perspectives.World journal of gastroenterology · 2014Review
- MYH polyposis syndrome: clinical findings, genetics issues and management.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2014Review
Corrections and comments
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Authors and funding
13 authors at 7 institutions in 4 countries.
Funding
Abstract
backgroundRecent reports have observed that individuals with serrated polyps, some of whom meet the clinical diagnostic criteria for Serrated Polyposis Syndrome (SPS), are among those who carry germline mutations in genes associated with polyposis syndromes including; (1) genes known to underlie hamartomatous polyposes (SMAD4, BMPR1A, and PTEN), (2) MUTYH-associated polyposis and (3) GREM1 in Hereditary Mixed Polyposis Syndrome (HMPS). The aim of this study was to characterise individuals fulfilling the current WHO criteria for SPS for germline mutations in these polyposis-associated genes.
methodsA total of 65 individuals with SPS (fulfilling WHO criteria 1 or 3), were recruited to the Genetics of Serrated Neoplasia study between 2000 and 2012, through multiple Genetics or Family Cancer Clinics within Australia, or from the New Zealand Familial Gastrointestinal Cancer Service. Individuals with SPS were tested for coding mutations and large deletions in the PTEN, SMAD4, and BMPR1A genes, for the MUTYH variants in exons 7 (Y179C) and 13 (G396D), and for the duplication upstream of GREM1.
resultsWe found no variants that were likely to be deleterious germline mutations in the SPS cases in the PTEN, SMAD4, and BMPR1A genes. A novel variant in intron 2 (c.164+223T>C) of PTEN was identified in one individual and was predicted by in silico analysis to have no functional consequences. One further individual with SPS was found to be mono-allelic for the MUTYH G396D mutation. No individuals carried the recently reported duplication within GREM1.
conclusionsGenes involved in the gastrointestinal hamartomatous polyposis, Hereditary Mixed Polyposis Syndrome and MUTYH-associated polyposis syndromes are not commonly altered in individuals with SPS.
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