Molecular Profile Detail

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Profile Name POLD1 L606M
Gene Variant Detail

POLD1 L606M (loss of function - predicted)

Relevant Treatment Approaches

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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 mutant Advanced Solid Tumor predicted - sensitive unspecified CTLA4 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLD1 mutant Advanced Solid Tumor predicted - sensitive unspecified PD-1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
POLD1 mutant Advanced Solid Tumor predicted - sensitive unspecified PD-L1 antibody Clinical Study - Cohort Actionable In a clinical study, immune checkpoint inhibitor (ICI) treatment, including CTLA4, PD-1, and PD-L1-targeting antibodies, resulted in prolonged overall survival (34 vs 18 months, p=0.004) in patients with advanced solid tumors harboring POLE or POLD1 mutations compared to wild-type patients, and POLE/POLD1 mutation served as a predictor of response to ICI (p=0.047, HR=1.41) independent of MSI-H status (PMID: 31415061). 31415061
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...