Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION - Associated Disease
- Turcot syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Thus, a case with the clinical condition of hereditary non-polyposis colorectal cancer as defined by the Amsterdam criteria may be one of Lynch syndrome characterized by a germline defect in one of the several MMR genes, one of the yet-to-be-defined Lynch-like syndrome if there is evidence of MMR deficiency in the tumor but no detectable germline MMR defect or tumor MLH1 promoter methylation, or familial colorectal cancer type X if there is no evidence of MMR deficiency.
- Pubmed
- 25716099
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.492486326115694
Drugs