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Gene | RAD51C |
Variant | T132P |
Impact List | missense |
Protein Effect | loss of function |
Gene Variant Descriptions | RAD51C T132P lies within the Rad51b, Rad51d, and Xrcc3-interacting region of the Rad51c protein (UniProt.org). T132P retains binding to Rad51b, Rad51c, and Xrcc2 but not Xrcc3 in an in vitro assay in one study (PMID: 33832919), but demonstrates reduced interaction with Rad51b, Rad51d, and Xrcc3 in a yeast assay in another study (PMID: 36099300), results in undetectable interaction with DNA in in vitro analyses, reduced homologous recombination activity compared to wild-type Rad51c in cultured cells (PMID: 36099300, PMID: 33832919), fails to rescue survival of Rad51c-null cells, and results in decreased Rad51 foci formation in cell culture (PMID: 33832919). |
Associated Drug Resistance | |
Category Variants Paths |
RAD51C mutant RAD51C inact mut RAD51C T132P |
Transcript | NM_058216.3 |
gDNA | chr17:g.58695179A>C |
cDNA | c.394A>C |
Protein | p.T132P |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
XM_006722002.5 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
XM_006722001.5 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
NM_058216.3 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
XM_006722001.4 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
NM_002876.3 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
XM_006722002.4 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
XM_047436505.1 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
NM_002876.4 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
NM_058216.2 | chr17:g.58695179A>C | c.394A>C | p.T132P | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51C T132P | Advanced Solid Tumor | sensitive | Olaparib | Preclinical - Cell culture | Actionable | In a preclinical study, Lynparza (olaparib) treatment resulted in decreased survival of cells expressing RAD51C T132P in culture (PMID: 33832919). | 33832919 |
RAD51C T132P | ovarian cancer | sensitive | Cisplatin + Paclitaxel | Case Reports/Case Series | Actionable | In a clinical case study, treatment with Platinol (cisplatin) plus Taxol (paclitaxel) following surgery resulted in a response with a progression-free survival of at least 10 years in a patient with ovarian cancer harboring RAD51C T132P, and preclinical studies demonstrated cells expressing RAD51C T132P were sensitive to Platinol (cisplatin) in culture (PMID: 33832919). | 33832919 |