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Gene POLE
Variant E277Q
Impact List missense
Protein Effect unknown
Gene Variant Descriptions POLE E277Q lies within the exonuclease domain of the Pole protein (PMID: 29352080). E277Q has been identified in the scientific literature (PMID: 35817971), but has not been biochemically characterized and therefore, its effect on Pole protein function is unknown (PubMed, Mar 2024).
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE E277Q

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Transcript NM_006231.4
gDNA chr12:g.132676626C>G
cDNA c.829G>C
Protein p.E277Q
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_006231.3 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534797.3 chr12:g.132672259C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534799.3 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534797.4 chr12:g.132672259C>G c.829G>C p.E277Q RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132676626C>G c.829G>C p.E277Q RefSeq GRCh38/hg38

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  • 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 )
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  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE 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
POLE 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
POLE 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