Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása.

Translated title of the contribution: Complex screening of family members at risk for familial adenomatous polyposis

T. Kristóf, T. Tóth, L. Ujszászy, L. Juhász, K. Korompai, K. Minik, Z. Papp

Research output: Contribution to journalArticle

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.

Original languageHungarian
Pages (from-to)3159-3164
Number of pages6
JournalOrvosi Hetilap
Volume138
Issue number50
Publication statusPublished - Dec 14 1997

Fingerprint

Adenomatous Polyposis Coli
Molecular Biology
APC Genes
Sigmoidoscopy
Registries
Retina
Colorectal Neoplasms
Alleles

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Kristóf, T., Tóth, T., Ujszászy, L., Juhász, L., Korompai, K., Minik, K., & Papp, Z. (1997). Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása. Orvosi Hetilap, 138(50), 3159-3164.

Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása. / Kristóf, T.; Tóth, T.; Ujszászy, L.; Juhász, L.; Korompai, K.; Minik, K.; Papp, Z.

In: Orvosi Hetilap, Vol. 138, No. 50, 14.12.1997, p. 3159-3164.

Research output: Contribution to journalArticle

Kristóf, T, Tóth, T, Ujszászy, L, Juhász, L, Korompai, K, Minik, K & Papp, Z 1997, 'Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása.', Orvosi Hetilap, vol. 138, no. 50, pp. 3159-3164.
Kristóf T, Tóth T, Ujszászy L, Juhász L, Korompai K, Minik K et al. Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása. Orvosi Hetilap. 1997 Dec 14;138(50):3159-3164.
Kristóf, T. ; Tóth, T. ; Ujszászy, L. ; Juhász, L. ; Korompai, K. ; Minik, K. ; Papp, Z. / Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása. In: Orvosi Hetilap. 1997 ; Vol. 138, No. 50. pp. 3159-3164.
@article{f7cf0be4e9e7431abfa234947aff4d04,
title = "Famili{\'a}ris adenomatosus polyposisos csal{\'a}dok praesymptom{\'a}s diagnosztik{\'a}n alapul{\'o} komplex gondoz{\'a}sa.",
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.",
author = "T. Krist{\'o}f and T. T{\'o}th and L. Ujsz{\'a}szy and L. Juh{\'a}sz and K. Korompai and K. Minik and Z. Papp",
year = "1997",
month = "12",
day = "14",
language = "Hungarian",
volume = "138",
pages = "3159--3164",
journal = "Orvosi Hetilap",
issn = "0030-6002",
publisher = "Akademiai Kiado",
number = "50",

}

TY - JOUR

T1 - Familiáris adenomatosus polyposisos családok praesymptomás diagnosztikán alapuló komplex gondozása.

AU - Kristóf, T.

AU - Tóth, T.

AU - Ujszászy, L.

AU - Juhász, L.

AU - Korompai, K.

AU - Minik, K.

AU - Papp, Z.

PY - 1997/12/14

Y1 - 1997/12/14

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=0031567797&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031567797&partnerID=8YFLogxK

M3 - Article

C2 - 9446080

AN - SCOPUS:0031567797

VL - 138

SP - 3159

EP - 3164

JO - Orvosi Hetilap

JF - Orvosi Hetilap

SN - 0030-6002

IS - 50

ER -