Ontario Registry for Studies of Familial Colon Cancer

Cancer Care Ontario, Toronto ON

Investigators

Linked publications & trials

Abstract

{\rtf1\ansi\ansicpg1252\deff0\deflang1033{\fonttbl{\f0\fswiss\fcharset0 Arial;}} {\*\generator Msftedit 5.41.15.1515;}\viewkind4\uc1\pard\f0\fs21 The Ontario Familial Colorectal Cancer Registry (OFCCR) is a productive member of the multinational six\par site Colon Cooperative Family Registries (Colon CFR). During Phases I and II (1997-2007), the OFCCR\par registered population based subjects, with family history data, epidemiologic risk factor data, dietary data,\par and biospecimens (blood, serum, tumor blocks) for over 4,8,00 incident colorectal cancer (CRC) cases, their\par 4,000 relatives, as well as similar data for over 1,900 controls from the province of Ontario, Canada. The\par OFCCR has contributed approximately one-quarter of all CFR cases, and half the CFR-wide population\par controls. The OFCCR biospecimen repository (BSR) at Mount Sinai Hospital (MSH) in Toronto maintains\par and distributes to the scientific community genomic germline DMA from OFCCR cases and controls, all of\par which have been EBV transformed to protect this valuable resource. During Phase II, the OFCCR recruited\par additional high risk families from the clinic-based Familial Gastrointestinal Cancer Registry at MSH; 75\par germline mismatch repair (MMR) gene mutation carriers and their relatives are now available for penetrance,\par epidemiologic, chemoprevention, psychosocial, and other research aimed at understanding familial and\par sporadic CRC. The OFCCR also contributed to the CFR, over 200 fresh frozen tumor samples, with\par annotated family history, epidemiologic and clinicopathologic data. Other unique contributions of the OFCCR\par to the Colon CFR include; germline MYH mutation testing of all Colon CFR cases and controls and the first\par genome wide association study in CRC that identified 8q24 SNPs that predict CRC susceptibility. In the\par current application (Phase III), the OFCCR proposes to continue as an active registry of the Colon CFR with\par the following Specific Aims: 1) expanding OFCCR families with MMR gene mutations, 2) recruiting additional\par high risk families from across Canada, 3) maintaining contact and follow-up of over 5,000 participants, 4)\par obtaining clinicopathologic and first treatment data on Phase I, II and III cases, 5) collaborating with the\par Colon CFR in molecular characterization of about 2,900 OFCCR cases (OFCCR will continue to test Colon\par CFR cases for MYH mutations), 6) adding to, and maintaining the OFCCR BSR and coordinating future\par efforts with the Colon CFR Central Repository, 7) maintaining the OFCCR bioinformatics core and\par coordinating efforts with RTI, the Informatics Center for the Colon CFR, 8) maintaining the OFCCR\par administrative core and contributing to the continued administrative efforts of the Colon CFR.\par The Colon CFR is the largest resource of its kind worldwide. Public health contributions of the OFCCR and\par the Colon CFR in general are far reaching including; providing a better understanding of susceptibility to\par CRC, identifying novel genetic markers of this disease, characterizing gene x gene and gene x\par environmental associations, and fostering clinicopathologic and psychosocial studies.\fs20\par \par }