ArticleGut1998
Phenotypic differences in familial adenomatous polyposis based on APC gene mutation status.
Article in Gut, 1998. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 74 citations in OpenAlex.
- Two cases of genetic testing for familial adenomatous polyposis without a family history.International cancer conference journal · 2025Article
- Familial Adenomatous Polyposis with Atypical Clinical Morphology and Genetic Variants.Internal medicine (Tokyo, Japan) · 2024Article
- Genomic insights into familial adenomatous polyposis: unraveling a rare case with whole APC gene deletion and intellectual disability.Human genome variation · 2024Article
- Recent Advances and Current Management for Desmoid Tumor Associated with Familial Adenomatous Polyposis.Journal of the anus, rectum and colon · 2023Review
- Review
- Characterization of Adenomatous Polyposis Coli Protein Dynamics and Localization at the Centrosome.Cancers · 2016Article
- Desmoid tumours: our experience of six cases and review of literature.Journal of clinical and diagnostic research : JCDR · 2014Review
- MUTYH-associated colorectal cancer and adenomatous polyposis.Surgery today · 2014Review
- Missense mutations in MLH1, MSH2, KRAS, and APC genes in colorectal cancer patients in Malaysia.Digestive diseases and sciences · 2012Article
- Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?The oncologist · 2011Article
- Surgical prophylaxis in familial adenomatous polyposis: do pre-existing desmoids outside the abdominal cavity matter?Familial cancer · 2010Article
- Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience.Techniques in coloproctology · 2010Article
- Mutation analysis of the APC gene in Taiwanese FAP families: low incidence of APC germline mutation in a distinct subgroup of FAP families.Familial cancer · 2010Article
- Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.International journal of colorectal disease · 2010Article
- Current ideas in desmoid tumours.Familial cancer · 2006Review
- Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.Hereditary cancer in clinical practice · 2005Article
- Intraductal papillary mucinous neoplasm of the pancreas in a patient with attenuated familial adenomatous polyposis.Journal of clinical pathology · 2005Article
- A comparison of the phenotype and genotype in adenomatous polyposis patients with and without a family history.Familial cancer · 2005Article
- Article
- Genetic and clinical characterisation of familial adenomatous polyposis: a population based study.Gut · 2002Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFamilial adenomatous polyposis (FAP) is a clinically well defined hereditary disease caused by germline mutations within the adenomatous polyposis coli (APC) gene. Although several techniques are applied in the mutation analysis of FAP kindreds about 20-50% of cases remain unclear, with no APC mutation identified (APC negative).
aimsTo delineate phenotypic differences between APC positive and APC negative patients with respect to colonic and extracolonic disease in order to determine whether additional mechanisms are involved in the pathogenesis of FAP.
methodsThe entire coding region of the APC gene was analysed using single stranded conformation polymorphism and protein truncation tests in 50 Swiss FAP families with a total of 161 affected individuals. Differences in phenotypic manifestation were statistically evaluated by Student's t test, Fisher's exact test, and chi2 test.
resultsThirty six families (72%) were APC positive. Statistically significant differences between APC positive and APC negative groups were found for the mean age at diagnosis of colonic polyposis (35.2 versus 45.3 years, respectively) and for the occurrence of stomach polyps (14 patients, all APC positive). Additionally, APC negative patients displayed lower polyp numbers at diagnosis and less extracolonic manifestations.
conclusionsFAP kindreds without detected APC gene mutations present with a notably milder disease phenotype compared with APC positive families, suggesting that different genetic factors might be involved.
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