caa a22 4500 477036457 CHVBK 20180405111306.0 cr unu---uuuuu 170330e19960601xx s 000 0 eng 10.1007/s002689900090 doi (NATIONALLICENCE)springer-10.1007/s002689900090 Screening by Genomic Linkage Studies and Mutation Analysis of Hereditary Adenomatous Polyposis Coli: Usefulness for Clinical Practice [Elektronische Daten] [Judith Karner-Hanusch, Brigitte Wolf, Martin Zehetmayer, Friedrich Wrba, Erich Roth, Christine Mannhalter] A heterogeneous group of patients suffering from adenomatous polyposis coli (APC) were evaluated by clinical and genetic investigations for the first time in Austria. The patients belonged to eight unrelated APC families. In six families several family members were affected with APC, and linkage analysis with highly informative markers was used to estimate the risk of single individuals in these families to develop APC. All index patients were also tested for the most frequent mutation in the APC gene (mutation cluster region, exon 15). Clinical investigations included ophthalmologic tests for congenital hypertrophy of retinal pigment epithelium and colonoscopy. According to DNA analysis, 5 of 19 at-risk individuals had to be considered to be at high risk of having inherited the disease. Four of them underwent proctocolectomy, one patient at risk is under colonoscopic surveillance. The predictive value of indirect genotype analyses reached 83.3%; direct mutation analyses allowed risk estimation in 50% of cases. Ophthalmologic investigation was informative in 75% of the families. Direct and indirect genotyping using a panel of highly polymorphic, closely linked microsatellite markers is a valuable, rapid, reliable method for establishing a presymptomatic diagnosis of APC, especially in families in which more than one affected individual is available for analysis. With regard to the onset of APC and extracolonic manifestations, the variability of APC demands clinical investigations in addition to the molecular tests for all patients and their first-degree relatives. Société Internationale de Chirugie, 1996 Karner-Hanusch Judith Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut Wolf Brigitte Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut Zehetmayer Martin Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut Wrba Friedrich Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut Roth Erich Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut Mannhalter Christine Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut World Journal of Surgery Springer-Verlag 20/5(1996-06-01), 578-584 0364-2313 20:5<578 1996 20 268 https://doi.org/10.1007/s002689900090 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s002689900090 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Karner-Hanusch Judith Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 700 1- Wolf Brigitte Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 700 1- Zehetmayer Martin Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 700 1- Wrba Friedrich Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 700 1- Roth Erich Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 700 1- Mannhalter Christine Department of Surgery, Division of General Surgery, University of Vienna Medical School, Währingergürtel 18-20, A-1090, Vienna, Austria aut NATIONALLICENCE 773 0- World Journal of Surgery Springer-Verlag 20/5(1996-06-01), 578-584 0364-2313 20:5<578 1996 20 268 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer