RAD51D E157*
Gene Variant Detail

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Gene RAD51D
Variant E157*
Impact List nonsense
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51D E157* results in a premature truncation of the Rad51d protein at amino acid 157 of 328 (UniProt.org). E157* has not been characterized however, due to the effects of other truncation mutations downstream of E157 (PMID: 33151324), is predicted to lead to a loss of Rad51d protein function.
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D E157*

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Transcript NM_002878.4
gDNA chr17:g.35106999C>A
cDNA c.469G>T
Protein p.E157*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.4 chr17:g.35106999C>A c.469G>T p.E157* 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...