Prediction Models for Mismatch Repair Gene Mutations
Prediction Models for Mismatch Repair Gene Mutations
Amsterdam Criteria-I developed by the International Collaborative Group on HNPCC (ICG-HNPCC) in 1990 is based only on family history of colorectal cancer ( Box 1 ). The strengths of the Amsterdam Criteria-I criteria are: that they are relatively simple to describe and use; and they are widely recognised internationally. The limitations of the Amsterdam Criteria-I are: (1) they do not take into account extracolonic cancers that are recognised as Lynch syndrome spectrum tumours; (2) they have reduced sensitivity for small families and (3) they require accurate recall and reporting of family history. Estimates of the Amsterdam Criteria-I sensitivity range between 47% and 91%, and specificity between 62% and 84%. MMR gene mutations are observed in approximately 50% (positive predictive value) of families that met the Amsterdam Criteria-I.
In 1998, the ICG-HNPCC devised the Amsterdam Criteria-I to produce the Amsterdam Criteria-II which broadened the definition of family history by including specified extracolonic cancers. Consequently, sensitivity increased (range between 77% and 81%) though specificity decreased (between 46% and 68%).
Other clinical criteria have been developed, including: modified Amsterdam Criteria, the Mount Sinai Hospital Criteria, Japanese Criteria, Korean Criteria and Chinese Criteria (see detail in Box 1). Note that all these clinical criteria are only used to identify Lynch syndrome families rather than individuals.
Clinical Criteria
Amsterdam Criteria
Amsterdam Criteria-I developed by the International Collaborative Group on HNPCC (ICG-HNPCC) in 1990 is based only on family history of colorectal cancer ( Box 1 ). The strengths of the Amsterdam Criteria-I criteria are: that they are relatively simple to describe and use; and they are widely recognised internationally. The limitations of the Amsterdam Criteria-I are: (1) they do not take into account extracolonic cancers that are recognised as Lynch syndrome spectrum tumours; (2) they have reduced sensitivity for small families and (3) they require accurate recall and reporting of family history. Estimates of the Amsterdam Criteria-I sensitivity range between 47% and 91%, and specificity between 62% and 84%. MMR gene mutations are observed in approximately 50% (positive predictive value) of families that met the Amsterdam Criteria-I.
In 1998, the ICG-HNPCC devised the Amsterdam Criteria-I to produce the Amsterdam Criteria-II which broadened the definition of family history by including specified extracolonic cancers. Consequently, sensitivity increased (range between 77% and 81%) though specificity decreased (between 46% and 68%).
Other Clinical Criteria
Other clinical criteria have been developed, including: modified Amsterdam Criteria, the Mount Sinai Hospital Criteria, Japanese Criteria, Korean Criteria and Chinese Criteria (see detail in Box 1). Note that all these clinical criteria are only used to identify Lynch syndrome families rather than individuals.
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