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| Gene | PMS2 |
| Variant | loss |
| Impact List | unknown |
| Protein Effect | loss of function |
| Gene Variant Descriptions | PMS2 loss indicates loss of the PMS2 gene, mRNA, and protein. |
| Associated Drug Resistance | |
| Category Variants Paths |
PMS2 mutant PMS2 inact mut PMS2 loss |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| PMS2 loss | colorectal cancer | decreased response | unspecified immune checkpoint inhibitor | Clinical Study - Cohort | Actionable | In a retrospective analysis, treatment with Keytruda (pembrolizumab), Opdivo (nivolumab), or the combination of Opdivo (nivolumab) and Yervoy (ipilimumab) in patients with mismatch repair-deficient colorectal cancer harboring PMS2 loss or MLH1 and PMS2 loss versus patients with MSH6 loss or MSH2 and MSH6 loss resulted in a similar objective response rate (70.6% vs. 60.0%), but resulted in shorter progression-free survival (PFS) rates (1-year PFS 57.8% vs. 84.2%, 2-year PFS 54.2% vs. 78.2%) (PMID: 33631043). | 33631043 |