For patients to take part in detection programmes and therefore reduce premature mortality due to cancer, it is vital for hereditary colorectal cancer syndromes to be identified early. Implementation of high-throughput techniques and genetic profiling of all new cases of colorectal cancer has improved early identification of affected families. As cancer risk and surveillance recommendations vary depending on gene defect, this Review argues that it is advantageous to include the gene defect in disease terminology to help facilitate the appropriate clinical management.
- Hans F. A. Vasen
- Ian Tomlinson
- Antoni Castells
