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| Gene | POLD1 |
| Variant | inact mut |
| Impact List | unknown |
| Protein Effect | loss of function |
| Gene Variant Descriptions | POLD1 inact mut indicates that this variant results in a loss of function of the Pold1 protein. However, the specific amino acid change has not been identified. |
| Associated Drug Resistance | |
| Category Variants Paths |
POLD1 mutant POLD1 inact mut |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| POLD1 inact mut | Advanced Solid Tumor | sensitive | E7449 | Preclinical | Actionable | In a preclinical study, E7449 inhibited proliferation of a POLD1-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). | 26513298 |
| POLD1 inact mut | colorectal carcinoma | not applicable | N/A | Guideline | Risk Factor | Germline POLD1 inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org). | detail... |
| POLD1 inact mut | colorectal cancer | not applicable | N/A | Guideline | Prognostic | POLD1 inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org). | detail... |