Annotation Detail
Information
- Associated Genes
- MRC1
- Associated Variants
-
MRC1 MUTATION
MRC1 MUTATION - Associated Disease
- Hereditary Nonpolyposis Colorectal Cancer
- Source Database
- DisGeNET
- Description
- These reports show that the clinical expression of biallelic MMR mutations depends on the biological impact of the second MMR mutation and that, in clinical practice, the presence of a second MMR mutation located in trans should also be considered in patients suspected to present a Lynch syndrome with an unusual early-onset of tumours.
- Pubmed
- 24068316
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.08
Drugs