Table 2.
Comparison of Studies with Germline DNA Mutations vs Our Study
| Source of study | Total no of patients | Patients with mutations | Germline DNA mutations | Max no of germline mutations in one patient |
| Stand Up to Cancer- Prostate Cancer Foundation Discovery Series | 150 | 15 patients (10%) | ATM, BRCA1, BCRA2, RAD51D | 1 |
| Stand Up to Cancer- Prostate Foundation Validation Series | 84 | 9 patients (10.7%) | ATM, BRCA1, BRCA2, FAM175A | 1 |
| Royal Marsden Hospital | 131 | 16 patients (12.2%) | ATM, BRCA2, CHEK2, MRE11A, MSH6, NBN, PALB2, RAD51C, RAD51D | 1 |
| University of Washington | 91 | 8 patients (8.8%) | ATM, BRCA2, CHEK2, GEN1, MSH2 | 1 |
| Weil Cornell Medical College | 69 | 7 patients (10.1%) | ATM, ATR, BRCA2, CHEK2, RAD51D | 1 |
| University of Michigan | 43 | 4 patients (9.3%) | ATM, BRCA1, GEN1, PMS2 | 1 |
| Memorial Sloan Kettering Cancer Center | 124 | 23 patients (8.5%) | ATM, BRCA1, BRCA2, BRIP1, CHEK2, NBN, PALB2, PMS2 | 1 |
| Our Study | 1 | 100% | ATM, CDK12, deficient mismatch repair, MSI, TMB | 5 |
ATM, ataxia telangiectasia mutated; BRCA, breast cancer; BRIP1, BRCA1 Interacting Protein 1; CHEK2, checkpoint kinase 2; FAM175A, BRCA1-A complex subunit Abraxas 1; GEN1, Gen, Holliday junction 5’flap endonuclease; MRE11A,; MSH6, MutS homolog; MSI, microsatellite instability; NBN, Nibrin; PALB2, partner and localiser of BRCA2; PMS2, PMS1 homolog 2; RAD51, RAD51 paralog; TMB, tumour mutation burden.