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.