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Gene RAD51D
Variant K91Ifs*13
Impact List frameshift
Protein Effect loss of function - predicted
Gene Variant Descriptions RAD51D K91Ifs*13 indicates a shift in the reading frame starting at amino acid 91 and terminating 13 residues downstream causing a premature truncation of the 328 amino acid Rad51d protein (UniProt.org). K91Ifs*13 results in similar levels of migration compared to wild-type Rad51d but fails to inhibit cell proliferation and results in increased sensitivity to PARP inhibitors in Rad51d knock-out cells in culture (PMID: 38905575), and therefore, is predicted to lead to a loss of Rad51d protein function.
Associated Drug Resistance
Category Variants Paths

RAD51D mutant RAD51D inact mut RAD51D K91fs RAD51D K91Ifs*13

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Transcript NM_002878.4
gDNA chr17:g.35107441_35107442dupAT
cDNA c.270_271dupTA
Protein p.K91Ifs*13
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_002878.4 chr17:g.35107441_35107442dupAT c.270_271dupTA p.K91Ifs*13 RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51D K91fs triple-receptor negative breast cancer sensitive Olaparib Preclinical - Cell culture Actionable In a preclinical study, Lynparza (olaparib) treatment inhibited viability of triple-negative breast cancer cells expressing RAD51D K91fs in culture (PMID: 33151324). 33151324
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 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 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...