Tumor MLH1 Promoter Region Methylation in Lynch Syndrome

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Tumor MLH1 Promoter Region Methylation in Lynch Syndrome

Conclusion


MLH1 promoter region methylation analysis is simple, reproducible and cheap. It can be used in conjunction with MMR IHC in the prescreening of low and moderate-risk patients for LS mutation testing. This will be a vital addition to BRAF testing when population assessment of MMR deficiency is introduced. Amsterdam criteria CRCs should be tested for constitutional mutation regardless of CRC prescreening status.

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