Report of the Combined Meeting of the International Society for Gastrointestinal Hereditary Tumours, the Human Variome Project and the National Cancer Institute Colon Cancer Family Registry, Duesseldorf, Germany, 24 June 2009

Abstract

This report provides a summary of the first combined meeting of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT), the NCI Colon Cancer Family Registry (C-CFR) Steering Committee and the Human Variome Project (HVP), held as a daylong premeeting of the 2009 Biennial Meeting of InSiGHT in Duesseldorf Germany. The meeting was attended by over 100 registrants representing over 40 countries including 26 members of the CFR Steering Committee. The meeting organizer Finlay Macrae (Melbourne, Australia), Secretary of InSiGHT, opened the meeting and explained that the purpose of the meeting was to bring together the collective expertise of the NCI CFR leadership, the HVP and InSiGHT in order to share knowledge and foster future substantive research collaboration. InSiGHT President Gabriela Moeslein (Duesseldorf, Germany) presented a brief history of the successful merger of the Leeds Castle Polyposis Group and the International Collaborative Group on HNPCC to form InSiGHT, with its first formal meeting in Newcastle UK in 2005. Altogether 25 active countries are represented in InSiGHT from Europe, North and South America, Middle East, Africa, Asia and Oceania. Gabriela Moeslein stressed the clinical relevance of the many areas of translational research being conducted by InSiGHT members including the detailed analysis of genotype-phenotype relationships in hereditary gastrointestinal malignancy. With the advances of molecular genetics, focus is now shifting from ascertainment of hereditary cancer through the disease phenotype to the interpretation of the entire range of molecular variants of the susceptibility genes. The chair of NCI C-CFR Steve Gallinger (Toronto, Canada) described the C-CFR as a platform for research on the genetics of colorectal cancer including gene and environment interactions. A major goal of the C-CFR is to provide resources for interdisciplinary studies designed to understand the etiology and prognosis of colon cancer. He described the Phase 1 and 2 accomplishments of the C-CFR efforts since 1998, including clinic-based and population-based studies. About 7,400 probands, 30,871 family members and 5,050 controls have been enrolled in six centres in the US, Canada and Australasia. The goals of Phase 3, initiated in 2008, were also reviewed including expansion of the number of families enrolled through clinic-based recruitment. Steve Gallinger stressed the extensive biospecimen resources, consisting of blood, paraffin-embedded and frozen tissue and transformed cell This study is conducted for the InSiGHT, HVP and NCI-CCFR Meeting Participants: G. Moeslein, S. Gallinger, R. Cotton, M. Genuardi, S. Tavtigian, G. Byrnes, A. Spurdle, I. Bernstein, N. de Wind, M. Nystrom, R. Hofstra, M. Woods, J. den Dunnen, B. Bhapat, M. Qi, P. Propping, H. Vasen, S. Povey, R. Sijmons, H. Thomas, J. Baron, S. Thibodeau, A. Boussioutas, J. Young, M. Jenkins, M. Dunlop, R. Houlston, I. Tomlinson, U. Peters, D. Ahnen, S. Parry, B. Parry, R. Scott, G. Hannan.