For kindred families fulfilling the Amsterdam criteria
, the chance of identifying a germline mutation is 40% to 50% .
In 1991, the Amsterdam criteria
were developed in order to identify families with this autosomal dominantly inherited CRC without a polyposis phenotype.
The Revised Amsterdam Criteria
(Table 1) are designed to identify families who should be referred for further testing to diagnose or exclude Lynch syndrome.
Familial colorectal cancer syndrome X should be the preferred term when referring to a family meeting the Amsterdam criteria
, but without an identifiable mutation.
were used to label a family as HNPCC.
The Roswell Park group looked for HNPCC mutations in 77 patients in the Gilda Radner Familial Ovarian Cancer Registry None had tested positive for BRCA gene mutations, and none met the Amsterdam criteria
for diagnosing HNPCC.
Only 3 of those 23 patients fulfilled the Amsterdam criteria
for the diagnosis of the syndrome.