POLE V411L
Gene Variant Detail

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Gene POLE
Variant V411L
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions POLE V411L lies within the exonuclease domain of the Pole protein (PMID: 29352080). V411L results in reduced Pole exonuclease activity in an in vitro assay (PMID: 25228659), and therefore, is predicted to lead to a loss of Pole protein function.
Associated Drug Resistance
Category Variants Paths

POLE mutant POLE inact mut POLE V411L

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Transcript NM_006231.4
gDNA chr12:g.132673703C>G
cDNA c.1231G>C
Protein p.V411L
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011534799.3 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534795.4 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
NM_006231.3 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
NM_006231 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_047429018.1 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534799 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534795.3 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
NM_006231.4 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534800 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534799.2 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38
XM_011534795 chr12:g.132673703C>G c.1231G>C p.V411L RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
POLE V411L endometrial cancer predicted - sensitive Nivolumab Case Reports/Case Series Actionable In a Phase II trial, Opdivo (nivolumab) resulted in a partial response in two patients with endometrial cancer harboring POLE V411L, along with high tumor mutational burden (PMID: 35398880; NCT03012581). 35398880
POLE V411L melanoma sensitive unspecified PD-1 antibody Preclinical Actionable In a preclinical study, a murine anti-PD1 antibody inhibited tumor growth in a syngeneic mouse model of melanoma expressing POLE V411L (PMID: 35817971). 35817971
POLE V411L colorectal cancer predicted - sensitive Ipilimumab + Nivolumab Case Reports/Case Series Actionable In a retrospective study, treatment with immune checkpoint inhibitors resulted in an overall response rate of 89% (22/29) and a disease control rate of 92% in metastatic colorectal cancer patients harboring pathogenic POLE/POLD1 variants, including a partial response in two patients harboring POLE V411L treated with the combination of Yervoy (ipilimumab) and Opdivo (nivolumab) (PMID: 38777726). 38777726
POLE V411L colorectal cancer predicted - sensitive Pembrolizumab Case Reports/Case Series Actionable In a retrospective study, treatment with immune checkpoint inhibitors resulted in an overall response rate of 89% (22/29) and a disease control rate of 92% in metastatic colorectal cancer patients harboring pathogenic POLE/POLD1 variants, including a partial response in two patients harboring POLE V411L treated with Keytruda (pembrolizumab) (PMID: 38777726). 38777726