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Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods.
Z Gastroenterol. 1993 Nov; 31(11):646-52.ZG

Abstract

Familial adenomatous polyposis (FAP) is an autosomal-dominant precancerous condition characterized by the appearance of hundreds to thousands of colorectal polyps. The responsible gene (APC) has been mapped and identified. The cancer prevention policy for persons at risk (children and sibs of FAP patients) implies an early diagnosis of the disease. A presymptomatic diagnosis allows to limit the regular rectosigmoidoscopic examination to those persons having inherited the disease gene. Presymptomatic diagnosis can be achieved by molecular genetic methods (direct and indirect genotype analysis) and by funduscopic examination of retinal pigment anomalies that are characteristic for FAP. The aim of this study was to examine the power of the molecular genetic and ophthalmologic methods for presymptomatic diagnosis in FAP. For this purpose 60 FAP families with 171 persons at risk were examined. By direct mutation analysis a presymptomatic diagnosis was achieved in 32% of the persons at risk; indirect genotype analysis was possible in 88% of the families in which more than one FAP patient was available. The ophthalmologic examination allowed a presymptomatic conclusion in 79% of the persons at risk. In no case there was a discrepancy in the results between the methods applied. The ophthalmologic presymptomatic test is useful especially in families where the index patients has a new mutation in the APC gene that has not been identified.

Authors+Show Affiliations

Institut für Humangenetik, Universität, Bonn.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8291275

Citation

Caspari, R, et al. "Predictive Diagnosis in Familial Adenomatous Polyposis: Evaluation of Molecular Genetic and Ophthalmologic Methods." Zeitschrift Fur Gastroenterologie, vol. 31, no. 11, 1993, pp. 646-52.
Caspari R, Friedl W, Böker T, et al. Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. Z Gastroenterol. 1993;31(11):646-52.
Caspari, R., Friedl, W., Böker, T., Augustin, A., Mandl, M., Jaeger, K., Gallkowski, K., & Propping, P. (1993). Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. Zeitschrift Fur Gastroenterologie, 31(11), 646-52.
Caspari R, et al. Predictive Diagnosis in Familial Adenomatous Polyposis: Evaluation of Molecular Genetic and Ophthalmologic Methods. Z Gastroenterol. 1993;31(11):646-52. PubMed PMID: 8291275.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Predictive diagnosis in familial adenomatous polyposis: evaluation of molecular genetic and ophthalmologic methods. AU - Caspari,R, AU - Friedl,W, AU - Böker,T, AU - Augustin,A, AU - Mandl,M, AU - Jaeger,K, AU - Gallkowski,K, AU - Propping,P, PY - 1993/11/1/pubmed PY - 1993/11/1/medline PY - 1993/11/1/entrez SP - 646 EP - 52 JF - Zeitschrift fur Gastroenterologie JO - Z Gastroenterol VL - 31 IS - 11 N2 - Familial adenomatous polyposis (FAP) is an autosomal-dominant precancerous condition characterized by the appearance of hundreds to thousands of colorectal polyps. The responsible gene (APC) has been mapped and identified. The cancer prevention policy for persons at risk (children and sibs of FAP patients) implies an early diagnosis of the disease. A presymptomatic diagnosis allows to limit the regular rectosigmoidoscopic examination to those persons having inherited the disease gene. Presymptomatic diagnosis can be achieved by molecular genetic methods (direct and indirect genotype analysis) and by funduscopic examination of retinal pigment anomalies that are characteristic for FAP. The aim of this study was to examine the power of the molecular genetic and ophthalmologic methods for presymptomatic diagnosis in FAP. For this purpose 60 FAP families with 171 persons at risk were examined. By direct mutation analysis a presymptomatic diagnosis was achieved in 32% of the persons at risk; indirect genotype analysis was possible in 88% of the families in which more than one FAP patient was available. The ophthalmologic examination allowed a presymptomatic conclusion in 79% of the persons at risk. In no case there was a discrepancy in the results between the methods applied. The ophthalmologic presymptomatic test is useful especially in families where the index patients has a new mutation in the APC gene that has not been identified. SN - 0044-2771 UR - https://www.unboundmedicine.com/medline/citation/8291275/Predictive_diagnosis_in_familial_adenomatous_polyposis:_evaluation_of_molecular_genetic_and_ophthalmologic_methods_ L2 - http://www.diseaseinfosearch.org/result/2766 DB - PRIME DP - Unbound Medicine ER -