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Gene PBRM1
Variant inact mut
Impact List unknown
Protein Effect loss of function
Gene Variant Descriptions PBRM1 inact mut indicates that this variant results in a loss of function of the Pbrm1 protein. However, the specific amino acid change has not been identified.
Associated Drug Resistance
Category Variants Paths

PBRM1 mutant PBRM1 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 )
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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
PBRM1 inact mut renal cell carcinoma no benefit Everolimus Case Reports/Case Series Actionable In a retrospective analysis from a Phase II clinical trial, patients with metastatic renal cell carcinoma had no difference in progression-free survival when stratified by the presence (n=6) or absence (n=22) of deleterious PBRM1 mutation when treated with Afinitor (everolimus) (PMID: 26951309). 26951309
PBRM1 inact mut renal cell carcinoma no benefit Apitolisib Case Reports/Case Series Actionable In a retrospective analysis from a Phase II clinical trial, patients with renal cell carcinoma treated with Apitolisib (GDC-0980) had no difference in progression-free survival when stratified by the presence (n=5) or absence (n=17) of deleterious PBRM1 mutations (PMID: 26951309). 26951309
PBRM1 inact mut clear cell renal cell carcinoma sensitive Atezolizumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut clear cell renal cell carcinoma sensitive Nivolumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut clear cell renal cell carcinoma sensitive Ipilimumab + Nivolumab Clinical Study - Cohort Actionable In a clinical study, renal clear cell carcinoma patients harboring PBRM1 loss-of-function mutations demonstrated improved response to immune checkpoint therapies including Opdivo (nivolumab) alone or in combination with Yervoy (ipilimumab), and Tecentriq (atezolizumab), potentially due to the distinct expression profile of immune-related genes in these patients (PMID: 29301960). 29301960
PBRM1 inact mut kidney cancer predicted - sensitive GSK126 Preclinical - Cell culture Actionable In a preclinical study, GSK126 inhibited growth of 3/4 tested renal cancer cell lines harboring PBRM1 inactivating mutations in culture, with inhibitor sensitivity associating with dependence on EZH2 catalytic activity (PMID: 26552009). 26552009
PBRM1 inact mut melanoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with melanoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.70 (p=0.192, n=86) and 1.02 (p=0.939, n=192), respectively (PMID: 32321774). 32321774
PBRM1 inact mut transitional cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with transitional cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 1.44 (p=0.34, n=56) and 0.82 (p=0.559, n=93), respectively (PMID: 32321774). 32321774
PBRM1 inact mut head and neck squamous cell carcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with head and neck squamous cell carcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.74 (p=0.631, n=31) and 0.76 (p=0.622, n=68), respectively (PMID: 32321774). 32321774
PBRM1 inact mut colorectal adenocarcinoma unknown unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, correlated with improved survival in one cohort of patients with colorectal adenocarcinoma treated with systemic immune checkpoint inhibitors but not the other, with adjusted HRs for overall survival of 0.30 (p=0.03, n=35) and 0.56 (p=0.244, n=63), respectively (PMID: 32321774). 32321774
PBRM1 inact mut gastroesophageal adenocarcinoma not predictive unspecified immune checkpoint inhibitor Clinical Study - Cohort Actionable In a retrospective analysis, somatic loss-of-function mutations in the genes of the mSWI/SNF complex, including PBRM1, did not correlate with improved survival in 2 separate cohorts of patients with gastroesophageal adenocarcinoma treated with systemic immune checkpoint inhibitors, with adjusted HRs for overall survival of 0.70 (p=0.403, n=66) and 0.46 (p=0.071, n=59), respectively (PMID: 32321774). 32321774
PBRM1 inact mut clear cell renal cell carcinoma sensitive PRT1419 Preclinical - Cell line xenograft Actionable In a preclinical study, PRT1419 inhibited proliferation and induced apoptosis in clear cell renal cell carcinoma cells lines harboring inactivating PBRM1 mutations in culture, and inhibited tumor growth in a cell line xenograft model (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma predicted - sensitive PRT2527 Preclinical - Cell culture Actionable In a preclinical study, PRT2527 inhibited spheroid growth in clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive PRT1419 + Sunitinib Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Sutent (sunitinib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Everolimus + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Afinitor (everolimus) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Cabozantinib + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Cometriq (Cabometyx, cabozantinib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625
PBRM1 inact mut clear cell renal cell carcinoma sensitive Pazopanib + PRT1419 Preclinical - Cell culture Actionable In a preclinical study, the combination of PRT1419 and Votrient (pazopanib) synergistically inhibited spheroid growth of clear cell renal cell carcinoma cell lines harboring inactivating PBRM1 mutations in culture (PMID: 38371625). 38371625