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Gene RAD51D
Variant D206A
Impact List missense
Protein Effect loss of function
Gene Variant Descriptions RAD51D D206A lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). D206A fails to restore mitomycin sensitivity in cell culture (PMID: 16717288), and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast and in cell culture assays (PMID: 16717288, PMID: 28646019).
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D D206A

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Transcript NM_002878.4
gDNA chr17:g.35103504T>G
cDNA c.617A>C
Protein p.D206A
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.4 chr17:g.35103504T>G c.617A>C p.D206A RefSeq GRCh38/hg38
NM_002878 chr17:g.35103504T>G c.617A>C p.D206A RefSeq GRCh38/hg38
NM_002878.3 chr17:g.35103504T>G c.617A>C p.D206A RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D 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 RAD51D (PMID: 32343890; NCT02987543). detail... detail... 32343890
RAD51D 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 RAD51D (NCCN.org). detail...
RAD51D mutant breast cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing breast cancer (NCCN.org). detail...
RAD51D mutant ovarian cancer not applicable N/A Guideline Risk Factor Germline RAD51D mutations are associated with increased risk of developing ovarian cancer (NCCN.org). detail...