Lynch Syndrome: A Single Hereditary Cancer Syndrome or Multiple Syndromes Defined by Different Mismatch Repair Genes?

it may be appropriate to consider categorizing Lynch syndrome as 4 distinct syndromes based on the specific altered MMR gene, as occurs for the recessive syndromes associated with MUTYHNTHL1, and MBD4base excision repair glycosylases. The varying carcinogenic mechanisms and associated cancer risks indicate the need for gene-specific surveillance recommendations in Lynch syndrome. Moreover, the growing understanding of gene-specific differences will likely affect treatment options and efficacy of Lynch syndrome vaccines.

https://pubmed.ncbi.nlm.nih.gov/37142200/

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