Molecular genetics improves the management of hereditary non-polyposis colorectal cancer

Background. The syndrome of hereditary non-polyposis colorectal cancer (HNP CC) can be diagnosed fairly accurately using clinical criteria and a family history. Identifying HNPCC helps to prevent large-bowel cancer, or allows cancer to be treated at an early stage. Once the syndrome has been diagnose d a family member's risk can be judged approximately from a family tree or it can now be predicted accurately if the causative mutation is known. Objective. This study involved attempts to improve the management of a fami ly with HNPCC over a period of 10 years. Clinical diagnostic criteria, colo noscopic surveillance, surgical treatment, genetic counselling molecular ge netic research, and finally predictive genetic testing were applied as they evolved during this time. Subjects and methods. A rural general practitioner first noted inherited la rge-bowel Cancer in the family and began screening subjects as they present ed, using rigid sigmoidoscopy at the local hospital. At the time that the d isorder was recognised as being HNPCC (1987), screening by means of colonos copy at our university hospital was aimed primarily at first-degree relativ es of affected individuals. After realising how many were at risk, screenin g was brought closer to the family. A team of clinicians and researchers vi sited the local hospital to identify and counsel.