the czech republic: genetic counseling in high- risk...

Disease Markers 15 (1999) 50 IOS Press 0278-0240/99/$8.00 © 1999 – IOS Press. All rights reserved 50 L. Foretova 1 , E. Machackova 2 , D. Valik 1 and L. Messiaen 2 1 Masaryk Memorial Cancer Institute Brno, Czech Republic 2 Center of Medical Genetics, University Hospital Gent, Belgium Genetic counseling of high-risk cancer families was started one and a half years ago in Masaryk Memorial Cancer Institute in Brno, the second largest city in the Czech Republic located in South Moravia. Since that time more than 120 families, mostly with breast/ovarian or colorectal cancers were seen. The inheritance and the pos- sibilities of cancer prevention and surveillance were discussed. Genetic testing in high-risk breast/ovarian cancer families was offered to 9 families. Families are currently analyzed at the Center of Medical Genetics, University Hospital, Gent, Belgium. By protein truncation analysis of BRCA1 exon 11 and BRCA2 exon 10 and 11 and heteroduplex analysis of selected exons, truncating mutations were found in 4 out of 9 families. One of these mutations (3875del4 in BRCA1) is frequently seen in the European population and the family would be eligible for haplotype study directed by IARC. Analysis of the remaining exons of BRCA1 and BRCA2 is in progress in the other families. The genetic surveillance was supported by grants from the agency League Against Cancer Prague, Czech Republic and Terry Fox Foundation. The genetic counseling, and genetic testing in the Czech families will be supported by a grant from the Internal Grant Agency of Ministry of Health of the Czech Republic. Abstract The Czech Republic: Genetic Counseling in High- Risk Breast/Ovarian Cancer Families

Upload: others

Post on 17-Oct-2020

2 views

Category:

Documents

0 download

Report

Download

Embed Size (px):

TRANSCRIPT

Page 1: The Czech Republic: Genetic Counseling in High- Risk ...downloads.hindawi.com/journals/dm/1999/206514.pdfCzech Republic 2Center of Medical Genetics, University Hospital Gent, Belgium

Disease Markers 15 (1999) 50IOS Press

L. Foretova1, E. Machackova2,D. Valik1 and L. Messiaen2

1Masaryk Memorial Cancer Institute Brno,Czech Republic2Center of Medical Genetics, UniversityHospital Gent, Belgium

Genetic counseling of high-risk cancerfamilies was started one and a half years ago inMasaryk Memorial Cancer Institute in Brno, thesecond largest city in the Czech Republic locatedin South Moravia. Since that time more than 120families, mostly with breast/ovarian or colorectalcancers were seen. The inheritance and the pos-sibilities of cancer prevention and surveillancewere discussed.

Genetic testing in high-risk breast/ovariancancer families was offered to 9 families.

Families are currently analyzed at the Center ofMedical Genetics, University Hospital, Gent,Belgium. By protein truncation analysis ofBRCA1 exon 11 and BRCA2 exon 10 and 11 andheteroduplex analysis of selected exons,truncating mutations were found in 4 out of 9families. One of these mutations (3875del4 inBRCA1) is frequently seen in the Europeanpopulation and the family would be eligible forhaplotype study directed by IARC. Analysis ofthe remaining exons of BRCA1 and BRCA2 is inprogress in the other families.

The genetic surveillance was supported bygrants from the agency League Against CancerPrague, Czech Republic and Terry FoxFoundation. The genetic counseling, and genetictesting in the Czech families will be supported bya grant from the Internal Grant Agency ofMinistry of Health of the Czech Republic.

Abstract

The Czech Republic: Genetic Counseling in High-Risk Breast/Ovarian Cancer Families