Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- Similarly, women with mutations in the DNA mismatch repair genes, MLH1, MSH2, MSH6, or PMS2, associated with the Lynch/Hereditary Non-Polyposis Colorectal Cancer (HNPCC) syndrome, have up to a 40-60% lifetime risk of both endometrial and colorectal cancers as well as a 9-12% lifetime risk of ovarian cancer.
- Pubmed
- 25238946
- 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
- 0.0103147911390515
Drugs