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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... |
POLD1 inact mut | rectum cancer | sensitive | Nivolumab | Guideline | Actionable | Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | rectum cancer | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | rectum cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | rectum cancer | sensitive | Ipilimumab + Nivolumab | Guideline | Actionable | Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic rectal cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | colon cancer | sensitive | Nivolumab | Guideline | Actionable | Opdivo (nivolumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | colon cancer | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as subsequent therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | colon cancer | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | colon cancer | sensitive | Ipilimumab + Nivolumab | Guideline | Actionable | Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as systemic therapy for patients with advanced or metastatic colon cancer harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | small intestine adenocarcinoma | sensitive | Dostarlimab-gxly | Guideline | Actionable | Jemperli (dostarlimab-gxly) is included in guidelines as a subsequent therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | small intestine adenocarcinoma | sensitive | Pembrolizumab | Guideline | Actionable | Keytruda (pembrolizumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | small intestine adenocarcinoma | sensitive | Ipilimumab + Nivolumab | Guideline | Actionable | Opdivo (nivolumab) in combination with Yervoy (ipilimumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org). | detail... |
POLD1 inact mut | small intestine adenocarcinoma | sensitive | Nivolumab | Guideline | Actionable | Opdivo (nivolumab) is included in guidelines as an initial therapy for patients with advanced or metastatic small bowel adenocarcinoma harboring POLD1 inactivating mutations (NCCN.org). | detail... |