ReviewOrphanet journal of rare diseases2014
Hamartomatous polyposis syndromes: a review.
Review in Orphanet journal of rare diseases, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 35 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
35 citing papers in PubMed, 106 citations in OpenAlex.
- Rare large sigmoid hamartomatous polyp in an elderly patient with atypical Peutz-Jeghers syndrome: A case report.World journal of gastrointestinal surgery · 2025Article
- Non-malignant features of cancer predisposition syndromes manifesting in childhood and adolescence: a guide for the general pediatrician.World journal of pediatrics : WJP · 2025Review
- Progress report: Peutz-Jeghers syndrome.Familial cancer · 2024Review
- Genetics, diet, microbiota, and metabolome: partners in crime for colon carcinogenesis.Clinical and experimental medicine · 2024Review
- Sporadic gastric juvenile polyposis with a novel SMAD4 nonsense mutation in a mosaic pattern.Clinical journal of gastroenterology · 2024Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Identification of a novel pathogenic deep intronic variant in PTEN resulting in pseudoexon inclusion in a patient with juvenile polyps.Journal of human genetics · 2023Article
- Article
- Hamartomatous polyps: Diagnosis, surveillance, and management.World journal of gastroenterology · 2023Review
- Rare Isolated Duodenal Hamartomatous Polyp in an Elderly Patient.The American journal of case reports · 2023Article
- SHH medulloblastoma and very early onset of bowel polyps in a child withFrontiers in molecular neuroscience · 2023Review
- Clinical Guidelines for Diagnosis and Management of Juvenile Polyposis Syndrome in Children and Adults-Secondary Publication.Journal of the anus, rectum and colon · 2023Review
- PTEN and LKB1 are differentially required in Gli1-expressing mesenchymal cells to suppress gastrointestinal polyposis.Cell reports · 2022Article
- Thyroid carcinoma associated with other primary neoplasms, a single center study.Medicine and pharmacy reports · 2022Article
- Genetic Characterization of Hereditary Cancer Syndromes Based on Targeted Next-Generation Sequencing.Molecular syndromology · 2022Article
- Polygenic Infantile Juvenile Polyposis Syndrome Managed With Sirolimus and Endoscopic Polypectomy.Gastroenterology research · 2022Article
- DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2022Review
- Article
- Clinical and Histologic Overlap and Distinction Among Various Hamartomatous Polyposis Syndromes.Clinical and translational gastroenterology · 2019Article
- A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.Clinical case reports · 2019Article
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hamartomatous Polyposis Syndromes (HPS) are genetic syndromes, which include Peutz-Jeghers syndrome, Juvenile polyposis syndrome, PTEN hamartoma tumour syndrome (Cowden Syndrom, Bannayan-Riley-Ruvalcaba and Proteus Syndrome) as well as hereditary mixed polyposis syndrome. Other syndromes such as Gorlin Syndrome and multiple endocrine neoplasia syndrome 2B are sometimes referred to as HPS. HPS is characterized by the development of hamartomatous polyps in the gastrointestinal tract as well as several extra-intestinal findings such as dermatological and dysmorphic features or extra-intestinal cancer. The syndromes are rare and inherited in an autosomal dominant manner.The diagnosis of HPS has traditionally been based on clinical criteria, but can sometimes be difficult as the severity of symptoms range considerably from only a few symptoms to very severe cases - even within the same family. De novo cases are also frequent. However, because of the discovery of several associated germline-mutations as well as the rapid development in genetics it is now possible to use genetic testing more often in the diagnostic process. Management of the syndromes is different for each syndrome as extra-intestinal symptoms and types of cancers differs.Clinical awareness and early diagnosis of HPS is important, as affected patients and at-risk family members should be offered genetic counselling and surveillance. Surveillance in children with HPS might prevent or detect intestinal or extra-intestinal complications, whereas in adulthood surveillance is recommended due to an increased risk of cancer e.g. intestinal cancer or breast cancer.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.