ReviewDeutsches Arzteblatt international2010
The differential diagnosis and surveillance of hereditary gastrointestinal polyposis syndromes.
Review in Deutsches Arzteblatt international, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- The 'other' colonic polyposis syndromes-evolving insights and guidance for endoscopists.International journal of colorectal disease · 2026Review
- Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China.NPJ precision oncology · 2025Article
- Polyposis found on index colonoscopy in a 56-year-old female -World journal of gastrointestinal endoscopy · 2023Article
- [Surgical strategies for hereditary colorectal cancer].Chirurgie (Heidelberg, Germany) · 2023Review
- 3-Year Clinical Performance of a New Pit and Fissure Sealant.Journal of clinical medicine · 2022Article
- Hereditary colorectal cancer diagnostics in southern Sweden: retrospective evaluation and future considerations with emphasis on Lynch syndrome.Journal of community genetics · 2019Article
- NTHL1-associate polyposis: first Australian case report.Familial cancer · 2019Article
- Advances in Identification of Susceptibility Gene Defects of Hereditary Colorectal Cancer.Journal of Cancer · 2019Review
- Prevalence of Synchronous Oligopolyposis in Incident Colorectal Cancer: A Population-Based Study.Puerto Rico health sciences journal · 2018Article
- Identification a nonsense mutation ofExperimental and therapeutic medicine · 2017Article
- Rapid detection of germline mutations for hereditary gastrointestinal polyposis/cancers using HaloPlex target enrichment and high-throughput sequencing technologies.Familial cancer · 2016Article
- [Surgical aspects of indications and techniques for adenomatous polyposis variants].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2016Review
- Diagnostics and Epidemiology of Colorectal Cancer.Visceral medicine · 2016Review
- Correlation between mutations and mRNA expression of APC and MUTYH genes: new insight into hereditary colorectal polyposis predisposition.Journal of experimental & clinical cancer research : CR · 2015Article
- Spindle microtubule dysfunction and cancer predisposition.Journal of cellular physiology · 2014Article
- Clinical application of genetics in management of colorectal cancer.Intestinal research · 2014Review
- Colorectal polyps and polyposis syndromes.Gastroenterology report · 2014Article
- Hereditary colorectal cancer registries in Canada: report from the Colorectal Cancer Association of Canada consensus meeting; Montreal, Quebec; October 28, 2011.Current oncology (Toronto, Ont.) · 2013Article
- Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.Gastroenterology · 2013Article
Corrections and comments
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Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary gastrointestinal polyposis syndromes account for about 1% of all cases of colorectal cancer and are associated with a broad spectrum of extracolonic tumors. The early detection and accurate classification of these syndromes are essential, since effective methods for surveillance and treatment are available.
methodsThis review article is based on a selective literature search, the author's own work, and evidence-based guidelines and recommendations. RESULTS AND
conclusionsThe diagnosis is initially suspected on the basis of the endoscopic findings and polyp histology. Because different syndromes can resemble each other phenotypically, e.g., autosomal dominant familial adenomatous polyposis and autosomal recessive MUTYH-associated polyposis, molecular genetic studies are important for differential diagnosis and for assessing the risk of recurrence. Identification of the familial mutation in an affected patient is a prerequisite for predictive testing in asymptomatic persons at risk and sometimes enables prognostication. In recent years, the rate of detection of mutations has risen by 10% to 30%, and clinically relevant genotype-phenotype correlations have been described for juvenile polyposis syndrome. Except in cases of mild adenomatous polyposis, phenotypic overlap among the hamartomatous polyposes often causes difficulties in differential diagnosis. Thus, in unclear cases, a pathologist with special expertise in gastrointestinal disorders should be consulted for the evaluation of polyp tissue. Aside from the monogenic polyposes, there are many other types of polyposis that are non-hereditary or of unknown cause, including the hyperplastic and mixed polyposis syndromes. Risk-adapted surveillance programs have been established for the more frequently occurring polyposes.
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