Muir-Torré syndrome: genes and variants

Genes linked to Muir-Torré syndrome

• MLH1: DNA mismatch repair protein Mlh1

  The protein partners with PMS2 to form MutL alpha, a core complex in post-replicative DNA mismatch repair. By helping correct copying errors in DNA, MLH1 protects genome stability, and inherited MLH1 variants are a major cause of Lynch syndrome.

  4 disease-causing and 49 uncertain variants in MLH1 are linked to Muir-Torré syndrome.

• MSH2: DNA mismatch repair protein Msh2

  The protein forms mismatch-recognition complexes with MSH6 or MSH3 that detect base mismatches and insertion-deletion loops in DNA. This first step of mismatch repair helps preserve genome integrity, and inherited MSH2 variants are associated with Lynch syndrome.

  1 disease-causing and 35 uncertain variants in MSH2 are linked to Muir-Torré syndrome.

Known disease-causing variants in Muir-Torré syndrome

Same protein, different disease

• Lynch syndrome is also caused by MLH1 variants; they fall mostly in different places as the Muir-Torré syndrome variants (64 disease-causing).
• Hereditary nonpolyposis colorectal neoplasms is also caused by MLH1 variants; they fall mostly in different places as the Muir-Torré syndrome variants (51 disease-causing).
• Colorectal cancer, hereditary nonpolyposis, type 6 is also caused by MLH1 variants; they fall mostly in different places as the Muir-Torré syndrome variants (17 disease-causing).
• Hereditary nonpolyposis colon cancer is also caused by MLH1 variants; they fall mostly in different places as the Muir-Torré syndrome variants (4 disease-causing).
• Lynch syndrome is also caused by MSH2 variants; they fall mostly in different places as the Muir-Torré syndrome variants (22 disease-causing).
• Hereditary nonpolyposis colorectal neoplasms is also caused by MSH2 variants; they fall mostly in different places as the Muir-Torré syndrome variants (12 disease-causing).

Diseases related to Muir-Torré syndrome

• Lynch syndrome, also linked to MLH1 and MSH2
• Hereditary nonpolyposis colorectal neoplasms, also linked to MLH1 and MSH2
• Ovarian cancer, also linked to MLH1 and MSH2
• Colorectal cancer, also linked to MLH1 and MSH2
• Hereditary nonpolyposis colon cancer, also linked to MLH1 and MSH2
• Mismatch repair cancer syndrome, also linked to MLH1 and MSH2
• Breast and/or ovarian cancer, also linked to MLH1 and MSH2
• Endometrial carcinoma, also linked to MLH1 and MSH2
• Gastric cancer, also linked to MLH1
• Colorectal cancer, hereditary nonpolyposis, type 6, also linked to MLH1
• Breast-ovarian cancer, familial, susceptibility to, 1, also linked to MSH2
• Hereditary breast ovarian cancer syndrome, also linked to MLH1

Frequently asked questions

Which genes are linked to Muir-Torré syndrome?

In CATVariant, Muir-Torré syndrome is linked to 2 analyzed proteins: MLH1 (DNA mismatch repair protein Mlh1) and MSH2 (DNA mismatch repair protein Msh2).

How many genetic variants are linked to Muir-Torré syndrome?

89 variants: 5 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 84 are of uncertain significance or have conflicting reports.

Which uncertain variants in Muir-Torré syndrome look disease-causing?

None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.

About this data

Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.

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