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Mueller-Koch et al in describe clinical and molecular evidence for a “new entity” of hereditary colorectal cancer (CRC).1 Clustering of CRC within families has been known for some time2 and it is not surprising that some such families will meet the Amsterdam criteria (AC) even though they do not carry a germline mutation in a DNA mismatch repair gene. It has been demonstrated previously that AC positive families without evidence of a DNA mismatch repair defect do not show either the clinical or pathological features of the hereditary non-polyposis colorectal cancer/Lynch syndrome.3 With respect to CRC, differences extend to multiplicity, anatomical site, histopathology, and DNA ploidy status.3 With respect to colorectal adenomas, these are more frequent but less advanced in AC positive families in which there is no evidence of a DNA mismatch repair defect.4 More recently it has been shown that the differences extend to the risks of developing both CRC and extracolonic cancer.5 The fundamental issue is whether it is reasonable to continue to use the limited set of clinical features that comprise the AC as a diagnostic label when there is clear evidence that families that meet the AC are clinically heterogeneous.6
Conflict of interest: None declared.
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