Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers | Synapse
March 3, 2026Open Access
Germline MLH1 c.-42 C > T is a likely pathogenic variant predisposing to a reduced-penetrance/modified Lynch syndrome phenotype featuring MLH1-methylated cancers
Puntos clave
Individuals with the MLH1 c.-42 C>T variant may have a higher risk of developing MLH1-methylated cancers.
The study highlights the reduced penetrance associated with this pathogenic variant, indicating not all carriers show symptoms.
Applying genetic testing for MLH1 variants can enhance cancer risk assessment among at-risk individuals.
Further studies are needed to confirm the association between this variant and its actual cancer risks and implications.