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Gene | BRIP1 |
Variant | R279Q |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | BRIP1 R279Q lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). R279Q confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, and failure to rescue mitomycin C-induced cell death of Brip1 knockout cells in culture (PMID: 32542039). |
Associated Drug Resistance | |
Category Variants Paths |
BRIP1 mutant BRIP1 inact mut BRIP1 R279Q |
Transcript | NM_032043.3 |
gDNA | chr17:g.61808549_61808550delAGinsCA |
cDNA | c.835_836delAGinsCA |
Protein | p.R279Q |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_047436894.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436897.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525341.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525332 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525339 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
NM_032043.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525340.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
NM_032043.2 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525333 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525339.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525336.2 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525332.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436896.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525333.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525336.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525340.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525334.2 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525335.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436904.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525336 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436901.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525341.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525335 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525332.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525337 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436892.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436891.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525341 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436902.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525333.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525334.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525339.3 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436903.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436895.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436893.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525334 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436900.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
NM_032043 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525337.2 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525335.4 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_011525340 | chr17:g.61808549_61808550delCTinsTG | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
XM_047436899.1 | chr17:g.61808549_61808550delAGinsCA | c.835_836delAGinsCA | p.R279Q | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
BRIP1 inact mut | prostate cancer | predicted - sensitive | Abiraterone + Niraparib + Prednisone | Phase III | Actionable | In a Phase III trial (MAGNITUDE), Zejula (niraparib) in combination with Zytiga (abiraterone) and Adasone (prednisone) (AAP) improved radiographic progression-free survival (HR 0.59) compared to placebo and AAP in patients with metastatic castration-resistant prostate cancer harboring inactivating mutations in the homologous recombination repair (HRR)-Fanconi pathway (BRIP1, FANCA, PALB2), with a HR of 0.23 in patients with BRIP1 mutations (J Clin Oncol 40, no. 16_suppl (June 01, 2022) 5020; NCT03748641). | detail... |
BRIP1 inact mut | prostate cancer | sensitive | Olaparib | Guideline | Actionable | Lynparza (olaparib) is included in guidelines as second-line therapy post androgen receptor-directed therapy for patients with metastatic castration-resistant prostate cancer harboring pathogenic mutations in BRIP1 (NCCN.org). | detail... |
BRIP1 inact mut | prostate cancer | sensitive | Olaparib | FDA approved - On Companion Diagnostic | Actionable | In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment significantly improved median imaging-based progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer who progressed on hormone therapy and harbored deleterious or suspected deleterious mutations in homologous recombination repair genes, including BRIP1 (PMID: 32343890; NCT02987543). | detail... 32343890 detail... |
BRIP1 inact mut | prostate cancer | predicted - sensitive | Rucaparib | Case Reports/Case Series | Actionable | In a Phase II trial (TRITON2), 1 of 2 patients with metastatic castrate-resistant prostate cancer harboring deleterious BRIP1 alterations demonstrated a PSA response and partial radiographic response after treatment with Rubraca (rucaparib), which were ongoing at the time of visit cutoff (PMID: 32086346; NCT02952534). | 32086346 |