Table 5. Case-Control Studies of BRCA1 and BRCA2 and Prostate Cancer Aggressiveness
| Study | Population | Controls | Gleason Scorea | PSAa | Tumor Stage or Gradea | Comments |
| Tryggvadóttir et al., 2007 [20] | 30 men diagnosed with prostate cancer who were BRCA2 999del5 founder mutation carriers | 59 men with prostate cancer matched by birth and diagnosis year and confirmed not to carry the BRCA2 999del5 mutation | Gleason score 7–10: | Not assessed | Stage IV at diagnosis: | |
| Cases: 84% | Cases: 55.2% | |||||
| Controls: 52.7% | Controls: 24.6% | |||||
| Agalliu et al., 2009 [15] | 979 AJ men diagnosed with prostate cancer between 1978 and 2005 (mean and median year of diagnosis: 1996) | 1,251 AJ men with no history of cancer | Gleason score 7–10: | Not assessed | Not assessed | |
| BRCA1 185delAG mutation: OR, 3.54 (95% CI, 1.22–10.31) | ||||||
| BRCA2 6174delT mutation: OR, 3.18 (95% CI, 1.37–7.34) | ||||||
| Edwards et al., 2010 [23] | 21 men diagnosed with prostate cancer who harbored a BRCA2 mutation: 6 with early-onset disease (≤55 y) from a UK prostate cancer study and 15 unselected for age at diagnosis from a UK clinical series | 1,587 age- and stage-matched men with prostate cancer | Not assessed | PSA ≥25 ng/mL: HR, 1.39 (95% CI, 1.04–1.86) | Stage T3: HR, 1.19 (95% CI, 0.68–2.05) | |
| Stage T4: HR, 1.87 (95% CI, 1.00–3.48) | ||||||
| Grade 2: HR, 2.24 (95% CI, 1.03–4.88) | ||||||
| Grade 3: HR, 3.94 (95% CI, 1.78–8.73) | ||||||
| Gallagher et al., 2010 [16] | 832 AJ men diagnosed with localized prostate cancer between 1988 and 2007, of which there were six BRCA1 mutation carriers and 20 BRCA2 mutation carriers | 454 AJ men with no history of cancer | Gleason score 7–10: | Not assessed | Not assessed | The BRCA1 5382insC founder mutation was not tested in this series. |
| BRCA2 6174delT mutation: HR, 2.63 (95% CI, 1.23–5.6; P = .001) | ||||||
| Thorne et al., 2011 [24] | 40 men diagnosed with prostate cancer who were BRCA2 mutation carriers from 30 familial breast cancer families from Australia and New Zealand | 97 men from 89 familial breast cancer families from Australia and New Zealand with prostate cancer and no BRCA mutation found in the family | Gleason score ≥8: | PSA10–100 ng/mL: | Stage ≥pT3 at presentation: | BRCA2 mutation carriers were more likely to have high-risk disease by D’Amico criteria than were noncarriers (77.5% vs. 58.7%, P = .05). |
| BRCA2 mutations: 35% (14/40) | ||||||
| BRCA2 mutations: 65.8% (25/38) | Controls: 27.9% (27/97) | BRCA2 mutations: 44.7% (17/38) | ||||
| PSA >101 ng/mL: | Controls: 22.6% (21/97) | |||||
| Controls: 33.0% (25/97) | BRCA2 mutations: 10% (4/40) | |||||
| Controls: 2.1% (2/97) |
| AJ = Ashkenazi Jewish; CI = confidence interval; HR = hazard ratio; OR = odds ratio; PSA = prostate-specific antigen. | ||||||
| aMeasures of prostate cancer aggressiveness. |
References
- Agalliu I, Gern R, Leanza S, et al.: Associations of high-grade prostate cancer with BRCA1 and BRCA2 founder mutations. Clin Cancer Res 15 (3): 1112-20, 2009. [PUBMED Abstract]
- Gallagher DJ, Gaudet MM, Pal P, et al.: Germline BRCA mutations denote a clinicopathologic subset of prostate cancer. Clin Cancer Res 16 (7): 2115-21, 2010. [PUBMED Abstract]
- Tryggvadóttir L, Vidarsdóttir L, Thorgeirsson T, et al.: Prostate cancer progression and survival in BRCA2 mutation carriers. J Natl Cancer Inst 99 (12): 929-35, 2007. [PUBMED Abstract]
- Edwards SM, Evans DG, Hope Q, et al.: Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis. Br J Cancer 103 (6): 918-24, 2010. [PUBMED Abstract]
- Thorne H, Willems AJ, Niedermayr E, et al.: Decreased prostate cancer-specific survival of men with BRCA2 mutations from multiple breast cancer families. Cancer Prev Res (Phila) 4 (7): 1002-10, 2011. [PUBMED Abstract]
