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Profile Name | PBRM1 Q1480Tfs*29 |
Gene Variant Detail | |
Relevant Treatment Approaches |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
PBRM1 mutant | clear cell renal cell carcinoma | conflicting | Everolimus | Phase II | Actionable | In a Phase II trial (RECORD-3), PBRM1 mutations were associated with longer first-line progression free survival (12.8 vs 5.5 months) in first-line Afinitor (everolimus)-treated clear cell renal cell carcinoma patients compared to first-line Sutent (sunitinib)-treated patients (PMID: 27751729). | 27751729 |
PBRM1 mutant | clear cell renal cell carcinoma | conflicting | Everolimus | Clinical Study - Cohort | Actionable | In a clinical study, PBRM1 truncating mutations were not associated with progression-free survival or overall survival in clear cell renal cell carcinoma patients treated with Afinitor (everolimus) (n=193) (PMID: 31486842). | 31486842 |
PBRM1 mutant | clear cell renal cell carcinoma | predicted - sensitive | Nivolumab | Clinical Study - Cohort | Actionable | In a clinical study, PBRM1 truncating mutations were associated with response to Opdivo (nivolumab) with 39% (15/38) of responding patients harboring PBRM1 mutations vs 22% (16/74) of non-responders, as well as clinical benefit (p=0.0497), increased progression-free survival (HR=0.67), and overall survival (HR=0.65) in post-hoc analysis of archival samples from a Phase III clinical trial of clear cell renal cell carcinoma patients (PMID: 31486842). | 31486842 |
PBRM1 mutant | lung non-small cell carcinoma | predicted - resistant | unspecified PD-1 antibody | Clinical Study - Cohort | Actionable | In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). | 36456601 |
PBRM1 mutant | lung non-small cell carcinoma | predicted - resistant | unspecified PD-L1 antibody | Clinical Study - Cohort | Actionable | In a clinical study, treatment with either an anti-PD-1 or anti-PD-L1 therapy resulted in a significantly shorter overall survival (p=0.0057) and progression-free survival (p=0.03) in patients with non-small cell lung cancer harboring a PBRM1 mutation compared to patients with wild-type PBRM1 (PMID: 36456601). | 36456601 |