title: [Complex screening of family members at risk for familial adenomatous polyposis].
abstract: 151 members of 10 affected families with FAP have been registered at the authors' regional polyposis registry, among them 51 FAP patients were verified histologically. The disorder is autosomal dominant thus the chance for the inheritance of the mutated allele is fifty percent in the offspring of an affected patient. Because of the high risk the registration and regular control of family members is recommended. They can be divided into high risk and low risk group based on presymptomatic tests. The examination of retina pigmentepithel was the only possibility for presymptomatic diagnosis earlier. After localization and identification of APC gene responsible for the disease molecular genetic methods have been introduced for presymptomatic diagnosis. The authors performed presymptomatic tests based on ophthalmologic and molecular genetic methods among family members at risk. Ophthalmologic examination was done in 53 while molecular genetic investigation in 54 cases. All the results of endoscopic, ophthalmological and molecular genetic examinations were available in 35 persons, among them 19 FAP have been found. Ophthalmological examination were informative in 33 out 35 cases (unequivocal positive or negative) while results of molecular genetic methods and sigmoidoscopy were correlated in every case. Authors stress the significance of complex screening of affected families with FAP in the prevention of colorectal cancer and extracolonic malignant processes.
authors.affiliation: Semmelweis Orvostudományi Egyetem, I. sz. Szülészeti és Nögyógyászati Klinika, Budapest.
authors.forename: T
authors.initials: T
authors.lastname: Kristóf
authors.forename: T
authors.initials: T
authors.lastname: Tóth
authors.forename: L
authors.initials: L
authors.lastname: Ujszászy
authors.forename: L
authors.initials: L
authors.lastname: Juhász
authors.forename: K
authors.initials: K
authors.lastname: Korompai
authors.forename: K
authors.initials: K
authors.lastname: Minik
authors.forename: Z
authors.initials: Z
authors.lastname: Papp
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D006801:Humans; D006814:Hungary; D008297:Male; D008403:Mass Screening; D008967:Molecular Biology; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics; D012307:Risk Factors