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

Lancet. 1995 Nov 4;346(8984):1200-1. doi: 10.1016/s0140-6736(95)92902-9.


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.

Publication types

  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Cluster Analysis
  • Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis*
  • Colorectal Neoplasms, Hereditary Nonpolyposis / genetics
  • Colorectal Neoplasms, Hereditary Nonpolyposis / pathology
  • DNA Replication / genetics
  • Humans
  • Microsatellite Repeats*
  • Middle Aged
  • Registries