title: Diagnostic use of microsatellite instability in hereditary non-polyposis colorectal cancer.
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.
mesh_terms: D000328:Adult; D016000:Cluster Analysis; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D004261:DNA Replication / Q000235:genetics; D006801:Humans; D018895:Microsatellite Repeats; D008875:Middle Aged; D012042:Registries