ArticleGut2004
Evidence for genetic predisposition to desmoid tumours in familial adenomatous polyposis independent of the germline APC mutation.
Article in Gut, 2004. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 58 papers, 3 of them syntheses 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
58 citing papers in PubMed, 3 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Updated European guidelines for clinical management of familial adenomatous polyposis (FAP), MUTYH-associated polyposis (MAP), gastric adenocarcinoma, proximal polyposis of the stomach (GAPPS) and other rare adenomatous polyposis syndromes: a joint EHTG-ESCP revision.The British journal of surgery · 2024Guideline
- Colectomy and desmoid tumours in familial adenomatous polyposis: a systematic review and meta-analysis.Familial cancer · 2022Pooled it
- Risk of desmoid tumor based on APC pathogenic variant location and surgical history in familial adenomatous polyposis: a U.S. community cohort study.Familial cancer · 2026Article
- Review
- Observational
- Solitary fibrous tumor: an updated review.Journal of pathology and translational medicine · 2026Article
- Updates and controversies for desmoids in familial adenomatous polyposis.Familial cancer · 2025Review
- Hereditary Colorectal Cancer: From Diagnosis to Surgical Options.Clinics in colon and rectal surgery · 2025Review
- Reexamining Multisystem Desmoid Tumors Linked to Gardner's Syndrome: A Clinical Case.Case reports in gastrointestinal medicine · 2025Article
- Genotype-phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis.Cancer science · 2023Article
- The Recent Advances in Molecular Diagnosis of Soft Tissue Tumors.International journal of molecular sciences · 2023Review
- A Review of the Clinical Presentation, Outcomes, and Treatments of Patients Having Desmoid Tumors.Gastro hep advances · 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
- Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis.Journal of the anus, rectum and colon · 2023Review
- A successful operation for giant intra-abdominal desmoid tumors associated with familial adenomatous polyposis: A case report.Molecular and clinical oncology · 2022Article
- Using genotype to assist clinical surveillance: a retrospective study of Chinese familial adenomatous polyposis patients.American journal of cancer research · 2022Article
- Japanese Society for Cancer of the Colon and Rectum (JSCCR) guidelines 2020 for the Clinical Practice of Hereditary Colorectal Cancer.International journal of clinical oncology · 2021Article
- Article
- An unusual finding in a desmoid-type fibromatosis of the pancreas: a case report and review of the literature.Journal of medical case reports · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMany patients with familial adenomatous polyposis (FAP) die from desmoid tumours which can arise spontaneously but often appear to be surgically induced by prophylactic colectomy. FAP results from germline adenomatous polyposis coli (APC) gene mutations and desmoids arise following biallelic APC mutation, with one change usually occurring distal to the second beta-catenin binding/degradation repeat of the gene (3' to codon 1399). We have suggested that because families with germline mutations in this region already have the requisite change, they are more likely to develop desmoids. However, there are families with 5' germline mutations where desmoids are common. PATIENTS AND
methodsWe examined desmoid risk dependent on germline APC mutation, sex, history of abdominal surgery, and family history in FAP patients from the St Mark's Hospital Polyposis Registry.
resultsOverall desmoid prevalence was 15%. Desmoids tended to cluster in susceptible individuals, irrespective of the germline APC mutation. Independent predictors of increased desmoid risk were: germline mutation distal to codon 1399; any family history of disease; and a strong family history of desmoids. A family history of multiple desmoids (>1) increased an individual's own risk of multiplicity. Females had twice the odds of developing desmoids compared with males. There was no significant interaction between any of the three explanatory variables.
conclusionsOur results indicate the influence of unknown genetic factors independent of APC in susceptibility to desmoid tumours in FAP. The data have implications in terms of clinical management of FAP patients and assessing the balance between chemoprevention and prophylactic colectomy.
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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.