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Gene BRIP1
Variant C283R
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 C283R lies within the helicase ATP-binding domain of the Brip1 protein (UniProt.org). C283R confers a loss of function to the Brip1 protein as demonstrated by reduced iron incorporation in an in vitro assay, defective unwinding of D-loop DNA substrates and G-quadruplex (G4) DNA secondary structures, failure to suppress accumulation of replisome-associated G4 structures and 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 C283R

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Transcript NM_032043.3
gDNA chr17:g.61808538A>G
cDNA c.847T>C
Protein p.C283R
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_011525334.2 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525336.2 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525340 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525333.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525335 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525341.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525336 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436895.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436902.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525341 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525337.2 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525337 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525334.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
NM_032043 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525334 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525332.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525332 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525339.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525339.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436904.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436893.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525333 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525336.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436903.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436894.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525333.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525332.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436892.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525341.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525339 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525340.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38
XM_011525340.4 chr17:g.61808538A>G c.847T>C p.C283R RefSeq GRCh38/hg38

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 )
  • Filtering will only apply to rows that are already loaded on the page. Filtering has no impact on query parameters.
  • Use quotes to match on a longer phrase with spaces (i.e. "mtor c1483f")

Sorting

  • Generally, the default sort order for tables is set to be first column ascending; however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column. Be sure to set ascending or descending order for a given column before moving on to the next column.

Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
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 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 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 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...