Biomarker | Frequency | |
Sporadic | Lynch syndrome | |
Microsatellite instability (MSI) | 15% | >95% |
BRAF V600E mutations | 50% of sporadic MSI | <1% |
5% of MSS | ||
10% overall | ||
Mismatch repair protein loss by IHC | 10–15%, 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.