Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION - Associated Disease
- Malignant tumor of colon
- Source Database
- DisGeNET
- Description
- The most common hereditary colon cancer susceptibility condition, Lynch syndrome (LS), previously known as hereditary nonpolyposis colorectal cancer, is an autosomal dominant condition caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes: MLH1, MSH2, MSH6, or PMS2.
- Pubmed
- 24051481
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0236154428709864
Drugs