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March 3, 2026Familial Cancer1 citationsOpen 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

DBDaniel D BuchananRAR AlvarezKMKhalid Mahmood

Key Points

  • 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.
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Cite This Study

Buchanan et al. (2026) studied this question.

synapsesocial.com/papers/69a75e7fc6e9836116a29267https://doi.org/10.1007/s10689-025-00519-y
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Methylation of CpG in a small region of the hMLH1 promoter invariably correlates with the absence of gene expression.1999 · 377 citations
  2. 2Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development.2001 · 236 citations
  3. 3de la Chapelle, A.1997 · 3,167 citations
  4. 4Methylation of the hMLH1 promoter correlates with lack of expression of hMLH1 in sporadic colon tumors and mismatch repair-defective human tumor cell lines.1997 · 1,484 citations
  5. 5High sensitivity mapping of methylated cytosines1994 · 1,888 citations