Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer
| Autor: | K-W. Ecker, G. Timmermanns, Gabriela Möslein, M. Kadmon, Waltraut Friedl, Reiner Caspari, D. Kreiβler-Haag, Marion Mandl, K-H. Jacobasch, Peter Propping, Michael Knapp |
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| Rok vydání: | 1994 |
| Předmět: |
Adult
Oncology medicine.medical_specialty Genes APC Adolescent Colorectal cancer Disease medicine.disease_cause Familial adenomatous polyposis Exon Internal medicine medicine Humans Age of Onset Child Codon Gene Aged Retrospective Studies Sequence Deletion Genetics Mutation Cancer prevention business.industry Cancer Exons General Medicine Middle Aged medicine.disease digestive system diseases Adenomatous Polyposis Coli Child Preschool Colonic Neoplasms business |
| Zdroj: | The Lancet. 343:629-632 |
| ISSN: | 0140-6736 |
| Popis: | The clinical course of familial adenomatous polyposis (FAP) varies considerably between patients. Prediction of the severity of the disease is important in the interest of effective cancer prevention. We examined whether age at diagnosis of FAP due to gastrointestinal symptoms and age at death due to colorectal cancer are related to the site of mutation in the responsible gene. 225 families with FAP were screened for mutations. The deletion of 5 base pairs at codon 1309 within exon 15 (known to be the most common mutation) was identified in 20 families; other mutations within exons 7-15 were found in 49 families. In patients with the 5 base-pair deletion at codon 1309, gastrointestinal symptoms and death from colorectal cancer occurred about 10 years earlier than in patients with other mutations. The 1309 mutation leads to development of colonic polyps at a younger age, thus giving rise to an earlier malignant tranformation. This relationship should be taken into account in strategies for preventing cancer in patients with FAP. |
| Databáze: | OpenAIRE |
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