SynthesisBMC gastroenterology2015
Desmoid tumors complicating Familial Adenomatous Polyposis: a meta-analysis mutation spectrum of affected individuals.
Synthesis in BMC gastroenterology, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 47 citations in OpenAlex.
- Does ileoanal pouch surgery increase the risk of desmoid in patients with familial adenomatous polyposis?International journal of colorectal disease · 2020Pooled it
- Familial Adenomatous Polyposis-Risk of Cancer, Cancer Prevention, and Long-Term Consequences: Learnings from Five Decades with the Danish Polyposis Register.APMIS : acta pathologica, microbiologica, et immunologica Scandinavica · 2026Review
- Desmoid Tumor of the Porta Hepatis: A Rare Location With Unusual Clinical Presentation.Case reports in hepatology · 2026Article
- Familial adenomatous polyposis family with clustering of psychiatric disorders.Japanese journal of clinical oncology · 2025Article
- A Closer Look: Familial Adenomatous Polyposis Suspected Through Ophthalmological Findings in an Adolescent.Cureus · 2025Article
- Management of desmoid tumors associated with familial adenomatous polyposis: a three-decade experience of a tertiary center in Brazil.Arquivos brasileiros de cirurgia digestiva : ABCD = Brazilian archives of digestive surgery · 2025Article
- Pediatric Cancer Screening in Hereditary Gastrointestinal Cancer Risk Syndromes: An Update from the AACR Childhood Cancer Predisposition Working Group.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Article
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Intra-abdominal desmoid tumors in familial adenomatous polyposis: How much do clinical and surgical variables interfere with their development?Clinics (Sao Paulo, Brazil) · 2023Article
- Article
- Cutaneous Expression of Familial Cancer Syndromes.Acta dermato-venereologica · 2021Review
- Upfront surgery is not advantageous compared to more conservative treatments such as observation or medical treatment for patients with desmoid tumors.BMC musculoskeletal disorders · 2021Article
- Desmoid Tumors Characteristics, Clinical Management, Active Surveillance, and Description of Our FAP Case Series.Journal of clinical medicine · 2020Review
- Article
- Medulloblastomas associated with an APC germline pathogenic variant share the good prognosis of CTNNB1-mutated medulloblastomas.Neuro-oncology · 2020Observational
- Gardner syndrome with a giant mass in the thoracic cavity: a case report and analysis of the related complications.International journal of clinical and experimental pathology · 2020Article
- Article
- Gastrointestinal Polyposis in Pediatric Patients.Journal of pediatric gastroenterology and nutrition · 2019Review
- Identification of aggressive Gardner syndrome phenotype associated with a de novoCold Spring Harbor molecular case studies · 2019Article
- Genetic predisposition to colorectal cancer: syndromes, genes, classification of genetic variants and implications for precision medicine.The Journal of pathology · 2019Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDesmoid tumors are a group of benign, invasive, solid tumors that are relatively rare in the general population, but can occur in up to 21 % of patients with Familial Adenomatous Polyposis (FAP). They can be difficult to treat and have high rates of recurrence even after resection. Our goal with this study was to identify the genetic mutations that put certain patients with FAP at high risk for desmoid tumors and could be future targets for research.
methodsWe performed a search in Pubmed, Ovid Medline and Embase to identify subjects with desmoid tumors and FAP. As a reference group for APC mutations in the unselected FAP population, we used the UMD-APC database referenced in the Orphanet portal which includes APC mutation data on 2040 individuals with FAP.
resultsMutations were able to be broken down into 7 regions based on previously published data. Mutations in the APC gene from codons 1310 to 2011 were the most common region encompassing 48 % of published desmoid cases and 40 % of the reference population. It had a slightly elevated odds ratio of 1.4 that was statistically significant along with codon region 543-713 that had an odds ratio of 2.0. Using a combination of p-value and CI, the remaining 5 regions did not meet statistical significance as either the p >0.05 or the CI included 1.0. The most common point mutation found was codon 1309 (13.1 %), but it was also the most commonly found mutation in our reference population (12.9 %) and had an odds ratio of 1.0.
conclusionsThere is an increased risk for desmoid tumors in individuals with APC mutations between codons 543-713 and 1310-2011 when compared to a reference population. These patients may benefit from further study to develop surveillance protocols that could improve outcomes.
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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.