Table 3

Biomarkers used in the diagnosis of Lynch syndrome (HNPCC)

SporadicLynch syndrome
Microsatellite instability (MSI)15%>95%
BRAF V600E mutations50% of sporadic MSI<1%
5% of MSS
10% overall
Mismatch repair protein loss by IHC10–15%, mostly MLH1∼90%
MLH1 promoter hypermethylation∼99% of sporadic MSI<1%
<1% MSS
15% overall
  • HNPCC, hereditary non-polyposis colorectal cancer; IHC, immunohistochemistry; MSS, microsatellite stable.