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Gene | RAD51B |
Variant | R8* |
Impact List | nonsense |
Protein Effect | loss of function - predicted |
Gene Variant Descriptions | RAD51B R8* results in a premature truncation of the Rad51b protein at aa 8 of 384 (UniProt.org). R8* has not been characterized, however, due to the effects of truncation mutations downstream of R8 (PMID: 9788630), is predicted to lead to a loss of Rad51b protein function. |
Associated Drug Resistance | |
Category Variants Paths |
RAD51B mutant RAD51B inact mut RAD51B R8* |
Transcript | NM_133510.4 |
gDNA | chr14:g.67823565C>T |
cDNA | c.22C>T |
Protein | p.R8* |
Source Database | RefSeq |
Genome Build | GRCh38/hg38 |
Transcript | gDNA | cDNA | Protein | Source Database | Genome Build |
---|---|---|---|---|---|
NM_001321819.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321818.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321809 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321818.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133509 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321809.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321821 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
XM_011537051 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
XM_017021545.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_002877 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321818 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133509.3 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133510.4 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321819 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321814.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321819.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133510.3 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321812.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321821.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321810.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321809.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321821.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321814 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
XM_011537050.3 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
XM_011537050 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
XM_017021545 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_002877.6 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321812 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133510 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321814.2 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_133509.5 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321810 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_001321810.1 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
NM_002877.5 | chr14:g.67823565C>T | c.22C>T | p.R8* | RefSeq | GRCh38/hg38 |
Molecular Profile | Indication/Tumor Type | Response Type | Therapy Name | Approval Status | Evidence Type | Efficacy Evidence | References |
---|---|---|---|---|---|---|---|
RAD51B 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 RAD51B (NCCN.org). | detail... |
RAD51B 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 RAD51B (PMID: 32343890; NCT02987543). | detail... detail... 32343890 |
RAD51B mutant | ovary serous adenocarcinoma | predicted - sensitive | Cediranib + Olaparib | Clinical Study - Cohort | Actionable | In a Phase II trial, Cediranib (AZD-2171) and Lynparza (olaparib) treatment was well tolerated, and resulted in an objective response (OR) of 9% (all partial), a 16-week progression-free survival (PFS) of 47%, and a disease control rate (DCR) of 68% in heavily pretreated high-grade serous ovarian cancer patients (n=34), and a median PFS of 4.8 months in patients (n=14) harboring mutations in either BRCA1, BRCA2, or RAD51B (PMID: 32444417; NCT02681237). | 32444417 |