ArticleAnnals of surgery1999
Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli.
Article in Annals of surgery, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 66 citations in OpenAlex.
- Diagnostic value of congenital hypertrophy of the retinal pigment epithelium in familial adenomatous polyposis: a systematic review.International journal of retina and vitreous · 2026Review
- Gene, genetics and genetic medicines in gastroenterology: Current status and its future.World journal of gastroenterology · 2026Review
- Integrated genotype-phenotype analysis of familial adenomatous polyposis-associated hepatocellular adenomas.Virchows Archiv : an international journal of pathology · 2024Article
- Genotype-phenotype correlation for extracolonic aggressive phenotypes in patients with familial adenomatous polyposis.Cancer science · 2023Article
- [Surgical strategies for hereditary colorectal cancer].Chirurgie (Heidelberg, Germany) · 2023Review
- Review
- Estrogen Receptor β as a Prognostic Marker of Tumor Progression in Colorectal Cancer with Familial Adenomatous Polyposis and Sporadic Polyps.Pathology oncology research : POR · 2018Article
- Current status of familial gastrointestinal polyposis syndromes.World journal of gastrointestinal oncology · 2015Review
- Genotype to phenotype: analyzing the effects of inherited mutations in colorectal cancer families.Mutation research · 2010Review
- Impact of group IVA cytosolic phospholipase A2 gene polymorphisms on phenotypic features of patients with familial adenomatous polyposis.International journal of colorectal disease · 2010Article
- [Hereditary colorectal cancer].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2008Review
- Extra-intestinal manifestations of familial adenomatous polyposis.Annals of surgical oncology · 2008Review
- An association between the 4G polymorphism in the PAI-1 promoter and the development of aggressive fibromatosis (desmoid tumor) in familial adenomatous polyposis patients.Familial cancer · 2007Article
- Familial adenomatous polyposis: The practical applications of clinical and molecular screening.Familial cancer · 2006Review
- [Preventive surgery for familial adenomatous polyposis coli].Der Chirurg; Zeitschrift fur alle Gebiete der operativen Medizen · 2005Review
- Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients.Hereditary cancer in clinical practice · 2005Article
- Article
- Preventive surgery for colon cancer in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer syndrome.Langenbeck's archives of surgery · 2003Review
- Article
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveUsing an interdisciplinary clinical and molecular approach, the authors identified APC germline mutations in families with familial adenomatous polyposis (FAP). Correlation of mutation site with disease manifestation and the impact of molecular data on clinical proceedings were examined. SUMMARY BACKGROUND DATA: Germline mutations in the APC gene predispose to FAP. Established and proposed genotype-phenotype correlations as well as the influence of mutation site on surgical procedures have been reported. The predictive value of APC mutation analysis for disease manifestation and therapeutic decision making needs to be investigated further.
methodsOne hundred twenty-three kindreds of the local FAP registry were included in this study. CHRPE phenotype was defined as at least one large characteristic lesion or a total of four lesions in both eyes. APC mutations were identified by protein truncation test and automated DNA sequencing from patient lymphocyte DNA and RNA.
resultsAPC germline mutations were identified in 85/123 families with FAP. They were located between codons 213 and 1581 of the APC gene and displayed distinct genotype-phenotype correlations. CHRPE status facilitated mutation analysis by discriminating regions of interest within the APC coding region. Severe manifestations of desmoids were restricted to mutations between codons 1444 through 1581. Whereas 91% (75/82) of at-risk persons were excluded as mutation carriers, APC germline mutations were detected before clinical examination in 9% (7/82) of at-risk persons. One patient agreed to endoscopy only after mutation detection.
conclusionsThis study supports the feasibility of combined molecular and clinical screening of families with FAP and may provide a guideline for routine presymptomatic molecular diagnostics in a clinical laboratory.
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