Gene Variant Detail

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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

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No Variant Reference Transcript is Available.
No transcript is Available.

Filtering

  • Case insensitive filtering will display rows if any text in any cell matches the filter term
  • Use simple literal full or partial string matches
  • Separate multiple filter terms with a space. Any order may be used (i. e. a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

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...