| [ Summary ] |
Currently, HNPCC diagnoses are dependent on the minimal criteria proposed by the International Collaborative Group on HNPCC (ICG-HNPCC), known as the "Amsterdam criteria". However, previous studies have shown that there are many families who do not meet the strict Amsterdam criteria but in whom mutations in the mismatch repair genes can be identified. Therefore, criteria for performing genetic testing in families not fulfilling the Amsterdam criteria but where a genetic bias for colon cancer is strongly suspected, are required. For this purpose, Suspected HNPCC criteria (S-HNPCC criteria) has been proposed. It has been shown that S-HNPCC criteria are useful in selecting patients and their family members who do not fulfill the Amsterdam criteria but would benefit from genetic diagnosis. Another important issue is that stomach cancer is not included in HNPCC associated cancer in the Amsterdam criteria. However, it has been shown that the prevalence of stomach cancer is high among HNPCC patients in Asian populations. From this aspect, the Bethesda guidelines and S-HNPCC criteria are useful in producing diagnoses of HNPCC in Asian populations. This is especially so because stomach cancer is taken into account in these criteria. These limitations of criteria need to be fully recognized in clinical settings. |