Gene Variant Detail

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Gene BRIP1
Variant G690R
Impact List missense
Protein Effect loss of function - predicted
Gene Variant Descriptions BRIP1 G690R does not lie within any known functional domains of the Brip1 protein (UniProt.org). G690R does not confer resistance to interstrand crosslinking agents in a BRIP1-deficient cell line in culture (PMID: 33619228), and therefore, is predicted to lead to a loss of Brip1 protein function.
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 G690R

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Transcript NM_032043.3
gDNA chr17:g.61776430C>T
cDNA c.2068G>A
Protein p.G690R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436896.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61776430C>T c.2068G>A p.G690R RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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
BRIP1 mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline BRIP1 mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...