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MIRAGE
Lynch syndrome
Summary
- Synonym
-
- HNPCC
- Hereditary Defective Mismatch Repair syndrome
- Hereditary non-polyposis colon cancer
- Hereditary non-polyposis colon cancer syndrome
- Hereditary non-polyposis colorectal cancer
- Hereditary non-polyposis colorectal cancer syndrome
- Hereditary nonpolyposis colon cancer
- Hereditary nonpolyposis colon cancer syndrome
- Hereditary nonpolyposis colorectal cancer syndrome
- hereditary nonpolyposis colorectal cancer
- hereditary nonpolyposis colorectal neoplasm
- Definition
- A syndrome that is characterized by an increased risk for colon cancer and cancers of the endometrium, ovary, stomach, small intestine, hepatobiliary tract, urinary tract, brain, and skin and has_material_basis_in mutation of mismatch repair genes that increases the risk of many types of cancers.
- Super Class
- autosomal dominant disease syndrome
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 92 | ACVR2A | activin A receptor type 2A | |
| 1874 | E2F4 | E2F transcription factor 4 | |
| 2956 | MSH6 | mutS homolog 6 | |
| 3845 | KRAS | KRAS proto-oncogene, GTPase | |
| 4082 | MARCKS | myristoylated alanine rich protein kinase C substrate | |
| 4089 | SMAD4 | SMAD family member 4 | |
| 4292 | MLH1 | mutL homolog 1 | |
| 4361 | MRE11 | MRE11 homolog, double strand break repair nuclease | |
| 4436 | MSH2 | mutS homolog 2 | |
| 5378 | PMS1 | PMS1 homolog 1, mismatch repair system component |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O00584 | Ribonuclease T2 | |
| P01116 | GTPase KRas | |
| P15884 | Transcription factor 4 | |
| P27037 | Activin receptor type-2A | |
| P29966 | Myristoylated alanine-rich C-kinase substrate | |
| P36897 | TGF-beta receptor type-1 | |
| P37173 | TGF-beta receptor type-2 | |
| P40692 | DNA mismatch repair protein Mlh1 | |
| P43246 | DNA mismatch repair protein Msh2 | |
| P49959 | Double-strand break repair protein MRE11 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9JK91 | DNA mismatch repair protein Mlh1 |
