1. DEVELOPMENT OF NETWORK OF CANCER FAMILY SYNDROME REGISTRIES IN EASTERN EUROPE Project co-ordinator: Prof. Jan Lubiński Hereditary Cancer Centre, Pomeranian Medical University, Szczecin, Poland

2. NETWORK OF CANCER FAMILY SYNDROME REGISTERS IN EASTERN EUROPE EU PROJECT

3. PROJECT PARTICIPANTS:  Prof. P. Boesze (Hungary),  Dr. P. Elsakov (Lithuania),  Dr. L. Foretova (Czech Republic),  Prof. J. Gardovskis (Latvia),  Prof. N. Haites (United Kingdom),  Dr. G. Moeslein (Germany),  Prof. H. Neumann (Germany),  Prof. B. Ponder (United Kingdom),  Prof. H. Sobol (France),  Dr. H. Vasen (Netherlands),  Dr. W. Weber (Switzerland),  J.-P. Mecklin (Finnland – subcontractor)  Prof. P. Boesze (Hungary),  Dr. P. Elsakov (Lithuania),  Dr. L. Foretova (Czech Republic),  Prof. J. Gardovskis (Latvia),  Prof. N. Haites (United Kingdom),  Dr. G. Moeslein (Germany),  Prof. H. Neumann (Germany),  Prof. B. Ponder (United Kingdom),  Prof. H. Sobol (France),  Dr. H. Vasen (Netherlands),  Dr. W. Weber (Switzerland),  J.-P. Mecklin (Finnland – subcontractor)

4. THE SCIENTIFIC OBJECTIVES OF THE PROJECT INCLUDED: 1.Elaboration of standards for a model cancer family syndrome (CFS) registries in Eastern Europe 2.Registration of 2000 families with different types of CFS in populations of East European countries (Czech Republic, Hungary, Latvia, Lithuania, Poland) 3.Initiation of European collaborative studies with the use of material collected by East European CFS registries 1.Elaboration of standards for a model cancer family syndrome (CFS) registries in Eastern Europe 2.Registration of 2000 families with different types of CFS in populations of East European countries (Czech Republic, Hungary, Latvia, Lithuania, Poland) 3.Initiation of European collaborative studies with the use of material collected by East European CFS registries

5. RESULTS: Ad 1. In the initial phase of the project, East European scientists visited Western centres in United Kingdom, Germany, France and Netherlands and performed analyses of existing situation in their countries. On the basis of these and literature data, all of the project participants formulated diagnosis and conclusions concerning development of the model CFS registry in Eastern Europe and described standards of a model organisational structure of Hereditary Cancer Centres in Eastern Europe. Ad 1. In the initial phase of the project, East European scientists visited Western centres in United Kingdom, Germany, France and Netherlands and performed analyses of existing situation in their countries. On the basis of these and literature data, all of the project participants formulated diagnosis and conclusions concerning development of the model CFS registry in Eastern Europe and described standards of a model organisational structure of Hereditary Cancer Centres in Eastern Europe.

6. RESULTS:

7. PARTICULAR ACHIEVEMENTS  Registration of ~1300 BRCA 1 mutation carriers  1,253 mln of 1,45 mln of inhabitants in West – Pomerania, Poland screened for CFS  Registration of ~1300 BRCA 1 mutation carriers  1,253 mln of 1,45 mln of inhabitants in West – Pomerania, Poland screened for CFS

8. TWÓJ STYL

9. RESULTS: Ad 3. Collaborative studies: A. Ongoing: 1.Clinical characteristics of families with FH gene constitutional mutations – Cybulski C., Mecklin J.P., Lubinski J. 2.Classification of hereditary cancers based on changes at protein level – Europroteome – Berlin – Lubinski J. 3.Modifying genes in patients with BRCA 1 constitutional mutations – Hamman U., Goldgar D., Scott R.J., Gronwald J., Lubinski J. 4.Nature and frequency of MSH 6 gene mutations in Latvia – Irmejs A., Gardovskis J., Kurzawski G., Suchy J., Lubinski J. 5.Family ascertainment and sample collection for identification of additional breast cancer susceptibility genes in the BRCAX study – Lubinski J., Goldgar D. 6.Average risk of breast and ovarian cancer associated with mutations in BRCA1 and BRCA2 detected in case series unselected for family history - Pharoah P., Ponder B., Narod S., Gronwald J., Lubinski J. Ad 3. Collaborative studies: A. Ongoing: 1.Clinical characteristics of families with FH gene constitutional mutations – Cybulski C., Mecklin J.P., Lubinski J. 2.Classification of hereditary cancers based on changes at protein level – Europroteome – Berlin – Lubinski J. 3.Modifying genes in patients with BRCA 1 constitutional mutations – Hamman U., Goldgar D., Scott R.J., Gronwald J., Lubinski J. 4.Nature and frequency of MSH 6 gene mutations in Latvia – Irmejs A., Gardovskis J., Kurzawski G., Suchy J., Lubinski J. 5.Family ascertainment and sample collection for identification of additional breast cancer susceptibility genes in the BRCAX study – Lubinski J., Goldgar D. 6.Average risk of breast and ovarian cancer associated with mutations in BRCA1 and BRCA2 detected in case series unselected for family history - Pharoah P., Ponder B., Narod S., Gronwald J., Lubinski J.

10. RESULTS: Ad 3. Collaborative studies: A. Ongoing: 7.Nuclear pedigree criteria of suspected HNPCC – Kladny J., Moeslein G., Lubinski J. 8.Founder mutations in the BRCA 1 gene in west Belarusian breast-ovarian cancer families – Oszurek O., Lubinski J. 9.Germline MSH 2 and MLH 1 mutational spectrum in HNPCC families from Poland and Baltic states – Kurzawski G., Elsakov P., Gardovskis J., Irmejs A., Moeslein G., Lubinski J. 10.Concerted Action Polyp Prevention 2. A randomised controlled trial of colorectal polyp and cancer prevention using aspirin in carriers of HNPCC – Lubinski J., Elsakov P., Burn J. 11.Stem Cell Therapeutics – Excellence Centre - Dembinska-Kiec A., Lubinski J. 12.Centre of Excellence in Molecular Bio-Medicine – Witt M., Lubinski J. 13.Excellence Centre for Hereditary Cancers (Network of Excellence) – Lubinski J., Elsakov P., Foretova L., Gardovskis J., Haites N., Ponder B., Moeslein G., Neumann H., Sobol H., Mecklin J.-P., Vasen H., Weber W. Ad 3. Collaborative studies: A. Ongoing: 7.Nuclear pedigree criteria of suspected HNPCC – Kladny J., Moeslein G., Lubinski J. 8.Founder mutations in the BRCA 1 gene in west Belarusian breast-ovarian cancer families – Oszurek O., Lubinski J. 9.Germline MSH 2 and MLH 1 mutational spectrum in HNPCC families from Poland and Baltic states – Kurzawski G., Elsakov P., Gardovskis J., Irmejs A., Moeslein G., Lubinski J. 10.Concerted Action Polyp Prevention 2. A randomised controlled trial of colorectal polyp and cancer prevention using aspirin in carriers of HNPCC – Lubinski J., Elsakov P., Burn J. 11.Stem Cell Therapeutics – Excellence Centre - Dembinska-Kiec A., Lubinski J. 12.Centre of Excellence in Molecular Bio-Medicine – Witt M., Lubinski J. 13.Excellence Centre for Hereditary Cancers (Network of Excellence) – Lubinski J., Elsakov P., Foretova L., Gardovskis J., Haites N., Ponder B., Moeslein G., Neumann H., Sobol H., Mecklin J.-P., Vasen H., Weber W.

11. RESULTS: Ad 3. Collaborative studies: B. Proposed: 1.Letters of Expression of Interest for 6th Framework Programme (European Commission): -Identification of Men with a genetic predisposition to prostate cancer and their treatment – Eeles R. -Assessment of the therapeutic response in breast cancer - Sobol H. -Clinical management of familial breast cancer (Network of Excellence) – Eccles D. -Prevention of hereditary endometrial cancer – Vasen H. -Colorectal cancer genetics: insight into cause and prevention (Network of Excellence) - Burn J. -Public health systems in combating hereditary cancers (Network of Excellence) – Lubinski J. Ad 3. Collaborative studies: B. Proposed: 1.Letters of Expression of Interest for 6th Framework Programme (European Commission): -Identification of Men with a genetic predisposition to prostate cancer and their treatment – Eeles R. -Assessment of the therapeutic response in breast cancer - Sobol H. -Clinical management of familial breast cancer (Network of Excellence) – Eccles D. -Prevention of hereditary endometrial cancer – Vasen H. -Colorectal cancer genetics: insight into cause and prevention (Network of Excellence) - Burn J. -Public health systems in combating hereditary cancers (Network of Excellence) – Lubinski J.

12. RESULTS: Ad 3. Collaborative studies: B. Proposed: 2.Modifying genes in patients with mutations within HNPCC genes – Scott R.J., Irmejs A., Kurzawski G., Marlicz K., Lubinski J. 3.Incidence of BRCA 2 constitutional mutations in families with aggregation of stomach and ovarian cancers – Jakubowska A., Starzynska T., Lubinski J., Caldas C. 4.Clinical characteristics of familial pancreatic cancers – Nej K., Starzynska T., Marlicz K., Lubinski J., Moeslein G. Ad 3. Collaborative studies: B. Proposed: 2.Modifying genes in patients with mutations within HNPCC genes – Scott R.J., Irmejs A., Kurzawski G., Marlicz K., Lubinski J. 3.Incidence of BRCA 2 constitutional mutations in families with aggregation of stomach and ovarian cancers – Jakubowska A., Starzynska T., Lubinski J., Caldas C. 4.Clinical characteristics of familial pancreatic cancers – Nej K., Starzynska T., Marlicz K., Lubinski J., Moeslein G.

13. WELCOME TO DEVELOP COLLABORATIVE STUDIES WITH PARTICIPATION OF EAST EUROPEAN REGISTRIES ! !

14. EUROPEAN REGISTRY More information:  www.genetyka.com  e-mail:ihcc@wp.pl  phone:+48-91-466-15-42 (Karolina Zięba) fax: +48-91-466-15-33 More information:  www.genetyka.com  e-mail:ihcc@wp.pl  phone:+48-91-466-15-42 (Karolina Zięba) fax: +48-91-466-15-33