ArticleGut2002
Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.
Article in Gut, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers.
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.
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Who cites it
40 citing papers in PubMed, 98 citations in OpenAlex.
- Trial
- Trial
- Signaling pathways involved in colorectal cancer: pathogenesis and targeted therapy.Signal transduction and targeted therapy · 2024Review
- The Progress of Colorectal Polyposis Syndrome in Chinese Population.Clinics in colon and rectal surgery · 2023Review
- Malignancy risk in individuals with familial adenomatous polyposis receiving biologics and immunomodulators.Familial cancer · 2022Article
- Seventeen primary malignant neoplasms involving the skin, ovary, esophagus, colon, oral cavity, and ear canal: a case report and review of the literature.Clinical journal of gastroenterology · 2021Review
- Relationship between microsatellite status and immune microenvironment of colorectal cancer and its application to diagnosis and treatment.Journal of clinical laboratory analysis · 2021Review
- Article
- Genetic predisposition in pediatric oncology.Medicine and pharmacy reports · 2020Review
- Deep Intronic Mutation in SERPING1 Caused Hereditary Angioedema Through Pseudoexon Activation.Journal of clinical immunology · 2020Article
- Article
- Attenuated adenomatous polyposis of the large bowel: Present and future.World journal of gastroenterology · 2017Article
- Tumor suppressor genes in familial adenomatous polyposis.Gastroenterology and hepatology from bed to bench · 2017Review
- Colorectal cancer in the very young: a comparative study of tumor markers, pathology and survival in early onset and adult onset patients.Journal of pediatric surgery · 2016Article
- Pseudoexons provide a mechanism for allele-specific expression of APC in familial adenomatous polyposis.Oncotarget · 2016Article
- The Role of Chromosomal Instability and Epigenetics in Colorectal Cancers Lacking β-Catenin/TCF Regulated Transcription.Gastroenterology research and practice · 2016Article
- Novel APC promoter and exon 1B deletion and allelic silencing in three mutation-negative classic familial adenomatous polyposis families.Genome medicine · 2015Article
- Risk of ileal pouch neoplasms in patients with familial adenomatous polyposis.World journal of gastroenterology · 2013Review
- Prevalence and risk factors for adenomas in the ileal pouch and the afferent loop after restorative proctocolectomy for patients with familial adenomatous polyposis.Surgical endoscopy · 2013Article
- Novel mutations of the APC gene and genetic consequences of splicing mutations in the Czech FAP families.Familial cancer · 2013Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
backgroundFamilial adenomatous polyposis (FAP) is a rare autosomal dominantly inherited disease predisposing to colon cancer and caused by germline mutations in the APC (adenomatous polyposis coli) gene.
aimsWe conducted a population based study to evaluate the prevalence and clinical implications of APC mutations among Finnish FAP kindreds. A possible founder effect in parallel with previous observations in hereditary non-polyposis colon cancer (HNPCC) was addressed. PATIENTS: Affected individuals from 65 kindreds were included.
methodsThe APC gene was screened for mutations using the protein truncation test and heteroduplex analysis. Haplotype analysis was performed with four flanking microsatellite markers. Families that failed to show any mutations were scrutinised with Southern blot hybridisation and allelic expression analysis.
resultsThirty eight different germline mutations in APC were identified in 47 kindreds (72%). The majority of these mutations were novel and unique to each family. Although sharing the classical polyposis phenotype, families without detectable APC mutations differed from mutation positive families in the following respects: firstly, mean age at polyposis diagnosis was higher (38.6 years (48 individuals) v 30.0 years (140 individuals); p=0.001); and secondly, the proportion of kindreds lacking extracolonic disease was higher (6/18 v. 5/47; p=0.04).
conclusionsOur results may pave the way for predictive testing in mutation positive families and should stimulate further molecular studies in mutation negative families. No founder effect was observed, which is in contrast with HNPCC in the same population.
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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.