An accurate cellular assay to determine pathogenicity of coding and noncoding variants in Lynch syndrome genes

Proceedings of the National Academy of Sciences, Volume 123, Issue 3, January 2026.
SignificanceThe gastrointestinal and genitourinary cancer predisposition Lynch syndrome is caused by overt deleterious germline mutations in DNA mismatch repair (MMR) genes. However, germline sequencing often reveals subtle base-pair substitutions in MMR …
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