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| Gene | RAD51C |
| Variant | T287A |
| Impact List | missense |
| Protein Effect | unknown |
| Gene Variant Descriptions | RAD51C T287A does not lie within any known functional domains of the Rad51c protein (UniProt.org). T287A is conflicting as it demonstrates homologous recombination activity similar to wild-type Rad51c in cultured cells, rescues survival in Rad51c-null cells in culture, and results in variable interaction with Rad51b, Rad51d, and Xrcc3 in one study (PMID: 36099300), but demonstrates a partial defect in homologous recombination (PMID: 22167183, PMID: 21980511, PMID: 25292178) and decreased association with Xrcc3 in other studies (PMID: 22167183, PMID: 21980511), and therefore, its effect on Rad51c protein function is unknown. |
| Associated Drug Resistance | |
| Category Variants Paths |
RAD51C mutant RAD51C T287A |
| Transcript | NM_058216.3 |
| gDNA | chr17:g.58720767A>G |
| cDNA | c.859A>G |
| Protein | p.T287A |
| Source Database | RefSeq |
| Genome Build | GRCh38/hg38 |
| Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
|---|---|---|---|---|---|
| XM_006722002 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| NM_058216 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| NM_058216.2 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| XM_006722002.4 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| XM_006722001.5 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| XM_006722002.5 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| XM_006722001 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| XM_006722001.4 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| NM_058216.3 | chr17:g.58720767A>G | c.859A>G | p.T287A | RefSeq | GRCh38/hg38 |
| Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
|---|---|---|---|---|---|---|---|
| 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 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 | ovarian cancer | not applicable | N/A | Guideline | Risk Factor | Germline RAD51C mutations are associated with increased risk of developing ovarian cancer (NCCN.org). | detail... |