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Gene | RAD51D |
Variant | V203E |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51D V203E lies within the Walker B motif region of the Rad51d protein (PMID: 30836272). V203E fails to restore mitomycin sensitivity in cell culture and demonstrates reduced ability to bind Xrcc2 and Rad51c in yeast assays (PMID: 16717288). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D V203E |
Transcript | NM_002878.4 |
gDNA | chr17:g.35103513A>T |
cDNA | c.608T>A |
Protein | p.V203E |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_002878 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35103513A>T | c.608T>A | p.V203E | RefSeq | GRCh38/hg38 |
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... |