Gene Variant Detail

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Gene RAD51C
Variant R193*
Impact List nonsense
Protein Effect loss of function
Gene Variant Descriptions RAD51C R193* results in a premature truncation of the Rad51c protein at amino acid 193 of 376 (UniProt.org). R193* confers a loss of function to the Rad51c protein as demonstrated by impairment of homologous recombination repair in cultured cells and reduced interaction with Xrcc3 and Rad51b in yeast assays (PMID: 28588062).
Associated Drug Resistance

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Transcript NM_058216.2
gDNA chr17:g.58703201C>T
cDNA c.577C>T
Protein p.R193*
Source Database RefSeq
Genome Build GRCh38/hg38
Transcript gDNA cDNA Protein Source Database Genome Build
NM_058216.2 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
NM_058216 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722001.4 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722001 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722002 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38
XM_006722002.4 chr17:g.58703201C>T c.577C>T p.R193* RefSeq GRCh38/hg38

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Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C R193* ovarian carcinoma predicted - sensitive Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation demonstrated a partial response when treated with Rubraca (rucaparib) (PMID: 28588062). 28588062
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W ovarian carcinoma predicted - resistant Rucaparib Case Reports/Case Series Actionable In a clinical case study, an ovarian carcinoma patient harboring a RAD51C R193* germline mutation developed resistance to Rubraca (rucaparib) after acquisition of RAD51C R193W, RAD51C H192_R193delinsGG, and RAD51C R193L (PMID: 28588062). 28588062
Molecular Profile Indication/Tumor Type Response Type Therapy Name Approval Status Evidence Type Efficacy Evidence References
RAD51C 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 RAD51C (NCCN.org). detail...
RAD51C 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 progression-free survival (PFS, 5.8 vs 3.5 mo, HR=0.49, p<0.001) compared to control in patients with metastatic castration-resistant prostate cancer harboring deleterious or suspected deleterious mutations in homologous recombination repair genes who progressed on hormone therapy, including patients harboring RAD51C mutations (PMID: 32343890; NCT02987543). detail... detail... 32343890
RAD51C inact mut Advanced Solid Tumor sensitive E7449 Preclinical Actionable In a preclinical study, E7449 inhibited proliferation of a RAD51C-deficient cell line in culture, which demonstrated increased sensitivity compared to cells without DNA repair pathway mutations (PMID: 26513298). 26513298
Molecular Profile Protein Effect Treatment Approaches
RAD51C R193* loss of function Olaparib
RAD51C H192_R193delinsGG RAD51C R193* RAD51C R193L RAD51C R193W