Abstract
Background Microsatellite instability (MSI) within colorectal cancers (CRC) may develop through inherited germline mutations in mismatch repair (MMR) genes (Lynch Syndrome) or sporadic epigenetic methylation of tumor suppressor or repair genes (methylator pathway). Although the molecular mechanisms in each pathway have been described, their associated precursor polyp burdens are not well-defined. This study analyzes precursor polyp burdens occurring within patients with MSI-H colorectal cancers associated with Lynch Syndrome (LS) or those with a methylator pathway cancer phenotype.
Highlights
Microsatellite instability (MSI) within colorectal cancers (CRC) may develop through inherited germline mutations in mismatch repair (MMR) genes (Lynch Syndrome) or sporadic epigenetic methylation of tumor suppressor or repair genes
MSI-H tumors considered to be methylators were defined by previously determined CpG island methylator phenotype (CIMP)
The percentage of serrated polyps varied by group with 46% (12/26) incidence in methylators compared to 17% (5/30) in Lynch Syndrome (LS) (p=0.02) and 24% (24/100) in MSS/CIMP-negative patients (p=0.03)
Summary
Microsatellite instability (MSI) within colorectal cancers (CRC) may develop through inherited germline mutations in mismatch repair (MMR) genes (Lynch Syndrome) or sporadic epigenetic methylation of tumor suppressor or repair genes (methylator pathway). The molecular mechanisms in each pathway have been described, their associated precursor polyp burdens are not well-defined. This study analyzes precursor polyp burdens occurring within patients with MSI-H colorectal cancers associated with Lynch Syndrome (LS) or those with a methylator pathway cancer phenotype
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