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Gene | RAD51D |
Variant | E37* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51D E37* results in a premature truncation of the Rad51d protein at amino acid 37 of 328 (UniProt.org). Due to the loss of the ATP-binding domain (UniProt.org), E37* is predicted to lead to a loss of Rad51d protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51D mutant RAD51D inact mut RAD51D E37* |
Transcript | NM_002878.4 |
gDNA | chr17:g.35119146C>A |
cDNA | c.109G>T |
Protein | p.E37* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_133629.2 | chr17:g.35119146C>A | c.109G>T | p.E37* | RefSeq | GRCh38/hg38 |
NM_002878.4 | chr17:g.35119146C>A | c.109G>T | p.E37* | RefSeq | GRCh38/hg38 |
NM_002878.3 | chr17:g.35119146C>A | c.109G>T | p.E37* | RefSeq | GRCh38/hg38 |
NM_133629.3 | chr17:g.35119146C>A | c.109G>T | p.E37* | RefSeq | GRCh38/hg38 |
NM_001142571.2 | chr17:g.35119146C>A | c.109G>T | p.E37* | RefSeq | GRCh38/hg38 |
NM_001142571.1 | chr17:g.35119146C>A | c.109G>T | p.E37* | 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... |