The inherited cancer connect (iccon) mutation-carrier database

摘要

The ICCon Partnership was formed in 2013 through the support of a CCNSW STREP grant. A principal goal of this collaboration is to build a national database of individuals with germline mutations causing hereditary cancer syndromes to promote translational research and improve the health of people with a hereditary predisposition to cancer. The ICCon database is currently in development and will comprise of de-identified clinical data that can be extracted for the purposes of linking families across Australia, providing supportive data for health policy applications, responding to feasibility enquiries for clinical trials, or to identify those patients who are eligible to participate in specific trials, or who may benefit from new advances in therapeutic interventions. The ICCon database will include all known carriers of pathogenic mutations in a cancer predisposition gene who have attended a familial cancer clinic (FCC). It will cover the range of hereditary cancer syndromes and include data collected as part of routine clinical care within the FCC. Data that is planned to be stored include mutation type, cancer diagnosis (if appropriate), cancer treatment (if known), family pedigree (de-identified) and cancer risk management information (if known). FCC patients will have the opportunity to provide additional consent for their treatment information to be linked to ICCon through the CART-WHEEL rare cancer registry. In addition to enabling HREC-approved projects and providing data to inform national policy in the hereditary cancer arena, data from the ICCon database will be able to contribute to both clinical and translational research activities. In the translational research arena the ICCon database will be able to contribute data to the international initiatives aiming to amalgamate mutation data, such as BIC (the Breast Cancer Information Core http://research.nhgri.nih.gov/bic/) and InSiGHT (the International Society for Gastrointestinal Hereditary Tumours http://www.insight-group.org/).