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Gene ATR
Variant S601F
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions ATR S601F does not lie within any known functional domains of the Atr protein (UniProt.org). S601F confers a loss of function to the Atr protein as indicated by decreased Chk1 phosphorylation induced by UVB irradiation in culture (PMID: 28273450).
Associated Drug Resistance
Category Variants Paths

ATR mutant ATR inact mut ATR S601F

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Transcript NM_001184.4
gDNA chr3:g.142558707G>A
cDNA c.1802C>T
Protein p.S601F
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047448362.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_011512924 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_047448360.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
NM_001184.3 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
NM_001184.4 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_047448363.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_011512926 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_011512924.2 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_047448361.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
NM_001184 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_011512924.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38
XM_047448364.1 chr3:g.142558707G>A c.1802C>T p.S601F RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib Guideline Actionable Talzenna (talazoparib) plus Xtandi (enzalutamide) is included in guidelines as systemic therapy for patients with metastatic castration-resistant prostate cancer harboring a pathogenic germline or somatic ATR mutation who have not been treated in the setting of castration-resistant prostate cancer (NCCN.org). detail...
ATR inact mut prostate cancer sensitive Enzalutamide + Talazoparib FDA approved Actionable In a Phase III trial (TALAPRO-2) that supported FDA approval, Talzenna (talazoparib) plus Xtandi (enzalutamide) improved median radiographic progression-free survival compared to enzalutamide plus placebo (27.9 vs 16.4 mo, HR 0.46, p=0.0003) in patients with metastatic castration-resistant prostate cancer harboring deficient homologous recombination repair genes including ATR, with an HR of 0.66 (p=0.12) in patients with non-BRCA mutations treated with Talzenna (talazoparib) (PMID: 37285865; NCT03395197). detail... 37285865