Annotation Detail
Information
- Associated Genes
- MRC1
- Associated Variants
-
MRC1 MUTATION
MRC1 MUTATION - Associated Disease
- Hereditary Nonpolyposis Colorectal Cancer
- Source Database
- DisGeNET
- Description
- Patients with bi-allelic germline mutations in mismatch repair (MMR) genes (MLH1, MSH2, MSH6, or PMS2) develop a rare but severe variant of Lynch syndrome called constitutional MMR deficiency (CMMRD).
- Pubmed
- 26116798
- Section of the abstract supporting the evidence
- BACKGROUND & AIMS
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
Drugs