Elsevier

The Lancet

Volume 346, Issue 8984, 4 November 1995, Pages 1200-1201
The Lancet

Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer

https://doi.org/10.1016/S0140-6736(95)92902-9Get rights and content

Abstract

50 families with a history of colorectal cancer were divided according to whether criteria for hereditary non-polyposis colorectal cancer (HNPCC) were fulfilled totally (A, n=19) or partly (B, n=31) and stratified by the demonstration that at least half the cancers tested per family were positive for DNA replication errors (RER+). Accepted clinical and pathological characteristics of HNPCC were found to cluster within 12 A/RER+ families in which the mean number of affected individuals per family was 10·1. Reliance upon clinical data alone may result in over-diagnosis of HNPCC, in small families who just meet the minimum criteria, whereas underdiagnosis is rare. The criteria could be refined by inclusion of RER status.

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