BRIP1 D736H
Gene Variant Detail

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Gene BRIP1
Variant D736H
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions BRIP1 D736H does not lie within any known functional domains of the Brip1 protein (UniProt.org). D736H retains binding to Brca1, Blm, and Mlh1 and results in G4 DNA unwinding activity similar to wild-type Brip1, but demonstrates decreased activity on canonical forked duplex DNA, reduced And1 binding, and decreased suppression of DNA damage in cell culture (PMID: 38177925).
Associated Drug Resistance
Category Variants Paths

BRIP1 mutant BRIP1 inact mut BRIP1 D736H

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Transcript NM_032043.3
gDNA chr17:g.61744483C>G
cDNA c.2206G>C
Protein p.D736H
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
XM_047436892.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_011525335.3 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_011525335 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_011525335.4 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043.3 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436900.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043.2 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436897.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
NM_032043 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436901.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436891.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436896.1 chr17:g.61744483C>G c.2206G>C p.D736H RefSeq GRCh38/hg38
XM_047436899.1 chr17:g.61744483C>G c.2206G>C p.D736H 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 FDA approved - On Companion Diagnostic Actionable In a Phase III trial (PROfound) that supported FDA approval, Lynparza (olaparib) treatment improved median progression-free survival (5.8 vs 3.5 mo, HR 0.49, p<0.001) vs control in metastatic castration-resistant prostate cancer patients with deleterious/suspected deleterious homologous recombination repair gene mutations who progressed on hormone therapy, including BRIP1 nonsense, frameshift, or splice site variants, rearrangement, or copy loss as detected by approved assays (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...
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...