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Content archived on 2024-04-16

GENETIC STUDIES IN CANCER FAMILIES

Objective

The Concerted Action Genetic Studies in Cancer Families with primary regard to Familial Adenomatous Polyposis of the Colon (EUROFAP) aims at diminishing casualties of hereditary cancer of the colon in Europe through genetic studies.
In order to diminish casualties of hereditary cancer of the colon the concerted action Genetic Studies in Cancer Families with primary regard to familial adenomatous polyposis of the colon (EUROFAP) was set up. Initially, the study comprised identification and registration of patients and families with familial adenomatous polyposis (FAP). A second stage of registration involved hereditary nonpolyposis cancer of the colon (HNPCC).

In March 1991 a course, The Establishment of a Polyposis Register, was held in Copenhagen. Then a meeting of International Collaborative Group HNPCC and EUROFAP was held (September 1991) to coordinate international activities including European efforts concerning HNPCC. In April 1991 a Laboratory and Linkage and Analysis Course was given in Leiden.

Special computer programmes have been made available. These comprise a Clinical FAP registration programme a FAP megabase 2.0 programme for graphic pedigree handling and linkage calculation as well as risk evaluation and a HNPCC megabase programme adjusted, for more elaborate handling of the clinical registration data, graphic pedigree handling, for linkage and risk evaluations.

In 1991 the FAP (APC) gene was identified through an international effort including EUROFAP. Continued development of efficient flanking markers, extragenic as well as intragenic, is necessary.

A workshop on Genetic environment interaction in various FAP mutants (January 1992) considered plans for testing the possible dietary effect of crystalline starch on the development of polyps in carriers of the FAP gene.

In May 1992 a Workshop Genetics of HNPCC was held with the primary purpose of making up an inventory of families with HNPCC to be used in a search for the HNPCC gene(s). Later a special HNPCC linkage committee was established.

Efforts towards complete registration of individuals and families with FAP and HNPCC in the European countries have been pursued which will serve the genetic studies as well as the preventive and therapeutic activities. General reports on FAP/HNPCC have been prepared by special committees involving social issues, surveillance and management, and HNPCC in Europe.
Familial Adenomatous Polyposis of the Colon, or FAP, is an inheritable autosomal dominant pre cancerous condition with adenomas which leads in all untreated cases to development of cancer of the colon and eventually death. Hereditary Non-Polyposis Cancer of the Colon or HNPCC is an autosomal dominant cancer like FAP, but without any clinical pre-cancerous marker like the adenomas in FAP. Quantitatively, untreated cases of FAP would give about 1% of casualties from cancer of the colon; while the proportion of hereditary cases, when HNPCC cases are included, would be 5-10%. The present Concerted Action has taken FAP as a model for study and prevention in a first phase, while aiming eventually at HNPCC as well.

The common goal of all participating institutes is to contribute towards reducing casualties from cancer of the colon, in the first place with regard to FAP, and later extended to include HNPCC.

The position of the EUROFAP Concerted Action in the European Strategy is essentially to serve as a model for reducing casualties in hereditary kinds of cancer.

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Coordinator

University Institute of Human Genetics
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Address
Blegdamsvej 3b
2200 Copenhagen N
Denmark

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