Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 MUTATION
PMS2 MUTATION - Associated Disease
- colorectal cancer
- Source Database
- DisGeNET
- Description
- Approximately 12-17 % of CRCs demonstrate MSI with germline mutations in genes involved in DNA mismatch repair, MLH1, MSH2, MSH6, PMS2 and TACSTD1/EPCAM and somatic MLH1 promotor hypermethylation being alternative pathways for the development of microsatellite unstable CRC.
- Pubmed
- 25213678
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,GAD
- DisGENET score for the Gene Disease association
- 0.0289036602256668
Drugs