Table 2.
DNA repair deficiency in prostate cancer: summary of prevalence data
| Ref | Cohort details | M0 (n) | M1 (n) | % BRCAm | % HRD* |
|---|---|---|---|---|---|
| [30] | HNPC suitable for prostatectomy | 112 | - | 1% | 4% |
| [31] | Low/intermediate risk HNPC | 333 | - | 4% | 13% |
| [29] | Mixed HNPC | 55 | 2 | 0% | 11% |
| [32] | Mixed cohort, predominantly M0 | 181 | 37 | 0 | 0 |
| [8] | Mixed cohort, both HNPC and mCRPC | 25 | 20 | 12% | 20% |
| [29] | Mixed, fatal mCRPC sampled at rapid autopsy and HNPC suitable for prostatectomy | 11 | 50 | 2% | 7% |
| [34] | Selected due to unusual clinical course, suspected predisposition, e.g. family history or atypical histology | 29 | 13 | 16% (10% gBRCA) | 27% (24% gHRD) |
| [36] | Fatal mCPRC sampled at rapid autopsy | 54 | 7% | 16% | |
| [6] | mCRPC trial participants at academic centres | - | 150 | 14% | 23% |
| [7] | mCRPC in an unselected PARPi trial | - | 50 | 14% | 27% |
| [37] | Cohorts participating in clinical trials, rapid autopsy programmes or precision medicine initiatives at academic centres | 692 | 6.2% (gBRCA) | 11.2% (gHRD) | |
| [35] | Sporadic mCRPC eligible for abiraterone +/- PARPi | - | 80 | 25% | |
| [33] | Sporadic mCRPC eligible for PROREPAIR-B (prospective cohort study) | - | 419 | 4.2% (gBRCA) | 9.1% (gHRD) |
BRCAm = BRCA mutant, CNA = copy number alteration, gBRCA = germline BRCA mutation, gHRD = germline HRD mutation, HNPC = hormone-naïve prostate cancer, M0 = non-metastatic prostate cancer, M1 = metastatic prostate cancer, tNGS = targeted next generation sequencing, mCRPC = metastatic castrate resistant prostate cancer, PARPi = PARP inhibitor, WES = whole exome sequencing.
*
Homologous recombination deficiency defined as pathogenic aberration in one or more: BRCA1, BRCA2, ATM, BARD1, BRIP, CDK12, CHEK2, NBN, PALB2, RAD51, RAD51B, RAD51C, RAD51D, RAD54L.