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Table 11. 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) [23]30 men diagnosed with prostate cancer who were BRCA2 999del5 founder mutation carriers59 men with prostate cancer matched by birth and diagnosis year and confirmed not to carry the BRCA2 999del5 mutationGleason score 7–10:Not assessedStage 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 cancerGleason score 7–10:Not assessedNot 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) [26]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 series1,587 age- and stage-matched men with prostate cancerNot assessedPSA ≥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 carriers454 AJ men with no history of cancerGleason score 7–10:Not assessedNot assessedThe 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) [27]40 men diagnosed with prostate cancer who were BRCA2 mutation carriers from 30 familial breast cancer families from Australia and New Zealand97 men from 89 familial breast cancer families from Australia and New Zealand with prostate cancer and no BRCA mutation found in the familyGleason score ≥8:PSA 10–100 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: 44.7% (17/38)
BRCA2 mutations: 65.8% (25/38)– Controls: 27.9% (27/97)
PSA >101 ng/mL:
– Controls: 33.0% (25/97)BRCA2 mutations: 10% (4/40)– Controls: 22.6% (21/97)
–Controls: 2.1% (2/97)
Castro et al. (2013) [28]2,019 men diagnosed with prostate cancer from the United Kingdom, of whom 18 were BRCA1 mutation carriers and 61 were BRCA2 mutation carriers1,940 men who were BRCA1/2 noncarriersGleason score >8:BRCA1 median PSA: 8.9 (range, 0.7–3,000)Stage ≥pT3 at presentation:Nodal metastasis and distant metastasis were higher in men with a BRCA mutation than in controls.
BRCA1 mutations: 27.8% (5/18)BRCA1: 38.9% (7/18)
BRCA2 mutations: 37.7% (23/61)BRCA2 median PSA: 15.1 (range, 0.5–761)BRCA2 : 49.2% (30/61)
– Controls 15.4% (299/1,940)Controls median PSA: 11.3 (range, 0.2–7,800)– Controls: 31.7% (616/1,940)

AJ = Ashkenazi Jewish; CI = confidence interval; HR = hazard ratio; OR = odds ratio; PSA = prostate-specific antigen.
aMeasures of prostate cancer aggressiveness.


  1. 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]

  2. 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]

  3. 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]

  4. 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]

  5. 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]

  6. Castro E, Goh C, Olmos D, et al.: Germline BRCA mutations are associated with higher risk of nodal involvement, distant metastasis, and poor survival outcomes in prostate cancer. J Clin Oncol 31 (14): 1748-57, 2013.  [PUBMED Abstract]