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| Gene | RAD51C |
| Variant | L262V |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C L262V does not lie within any known functional domains of the Rad51c protein (UniProt.org). L262V retains binding with Rad51b and Xrcc3, but results in variable interaction with Rad51d in a yeast assay (PMID: 36099300), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C L262V |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58709937T>G |
| cDNA | c.784T>G |
| Protein | p.L262V |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722001.4 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58709937T>G | c.784T>G | p.L262V | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| RAD51C mutant | ovarian serous carcinoma | predicted - sensitive | Olaparib | Case Reports/Case Series | Actionable | In a clinical case study, Lynparza (olaparib) treatment resulted in a complete response with treatment ongoing at 14 months in a patient with relapsed, metastatic high grade serous ovarian carcinoma harboring RAD51C mutations (PMID: 36176748). | 36176748 |
| RAD51C mutant | breast cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing breast cancer (NCCN.org). | detail... |
| RAD51C mutant | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |