POLE inact mut
Gene Variant Detail

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Gene POLE
Variant inact mut
Impact List unknown
Protein Effect loss of function
Gene Variant Descriptions POLE inact mut indicates that this variant results in a loss of function of the Pole protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE 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
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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE inact mut Advanced Solid Tumor predicted - sensitive Nivolumab Case Reports/Case Series Actionable In a Phase II trial, Opdivo (nivolumab) resulted in an objective response rate (ORR) of 38% (7/19; all partial responses) and a disease control rate (DCR) of 58% (11/19) at 12 weeks in patients with advanced solid tumors harboring a POLE mutation, and among assessable patients with an inactivating POLE mutation, along with high tumor mutational burden, treatment resulted in an ORR of 46% (5/11) and a DCR of 73% (8/11) (PMID: 35398880; NCT03012581). 35398880
POLE inact mut colorectal cancer predicted - sensitive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a clinical study, immunotherapy resulted in improved clinical benefit in patients with metastatic colorectal cancer harboring POLE inactivating mutations (n=7, 3 complete responses, 3 partial responses, 1 stable disease (SD)) and durable response (remained on therapy with median follow up of 36 months) compared to microsatellite stable (MSS) patients harboring non-loss-of-function POLE mutations (n=7, 2 SD; median progression-free survival 3.6 months, p<0.0003) (Ann Oncol (2023) 34 (suppl_2): S448-S449). detail...
POLE inact mut colorectal carcinoma not applicable N/A Guideline Risk Factor Germline POLE inactivating mutations result in polymerase proofreading-associated polyposis and are associated with increased risk of developing colorectal carcinoma (NCCN.org). detail...
POLE inact mut colorectal cancer not applicable N/A Guideline Prognostic POLE inactivating mutations are associated with a more favorable prognosis in patients with colorectal cancer (NCCN.org). detail...
POLE inact mut Advanced Solid Tumor predicted - sensitive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, treatment with immune checkpoint inhibitors including PD1/PD-L1 inhibitor monotherapies or in combination with CTLA inhibitors resulted in improved clinical benefit rate (82.4% vs 30.0%, p=0.013), median progression-free survival (15.1 vs 2.2 mo, p<0.001), overall survival (29.5 vs 6.8 mo, p<0.001), and treatment duration (15.5 vs 2.5 mo, p<0.001) in advanced solid tumor patients harboring pathogenic POLE mutations compared to those harboring benign mutations (PMID: 35108036). 35108036