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Genetics of Prostate Cancer (PDQ®)

  • Posted: 11/20/2003
  • Updated: 08/18/2014

Table 7. Case-Control Studies in Ashkenazi Jewish Populations of BRCA1 and BRCA2 and Prostate Cancer Risk

Study Population Controls Mutation Frequency (BRCA1) Mutation Frequency (BRCA2) Prostate Cancer Risk (BRCA1) Prostate Cancer Risk (BRCA2) Comments 
AJ = Ashkenazi Jewish; CI = confidence interval; MECC = Molecular Epidemiology of Colorectal Cancer; OR = odds ratio; WAS = Washington Ashkenazi Study.
Guisti et al. (2003) [13]979 consecutive AJ men from Israel diagnosed with prostate cancer between 1994 and 1995Prevalence of founder mutations compared with age-matched controls >50 years with no history of prostate cancer from the WAS study and the MECC study from IsraelCases: 16 (1.7%)Cases: 14 (1.5%)185delAG: OR, 2.52 (95% CI, 1.05–6.04)OR, 2.02 (95% CI, 0.16–5.72)There was no evidence of unique or specific histopathology findings within the mutation-associated prostate cancers.
Controls: 11 (0.81%)Controls: 10 (0.74%)5282insC: OR, 0.22 (95% CI, 0.16–5.72)
Kirchoff et al. (2004) [14]251 unselected AJ men treated for prostate cancer between 2000 and 20021,472 AJ men with no history of cancerCases: 5 (2.0%)Cases: 8 (3.2%)OR, 2.20 (95% CI, 0.72–6.70)OR, 4.78 (95% CI, 1.87–12.25)
Controls: 12 (0.8%)Controls: 16 (1.1%)
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 cancerCases: 12 (1.2%)Cases: 18 (1.9%)OR, 1.39 (95% CI, 0.60–3.22)OR, 1.92 (95% CI, 0.91–4.07)Gleason score 7–10 prostate cancer was more common in BRCA1 mutation carriers (OR, 2.23; 95% CI, 0.84–5.86) and BRCA2 mutation carriers (OR, 3.18; 95% CI, 1.62–6.24) than in controls.
Controls: 11 (0.9%)Controls: 12 (1.0%)
Gallagher et al. (2010) [16]832 AJ men diagnosed with localized prostate cancer between 1988 and 2007454 AJ men with no history of cancerNoncarriers: 806 (96.9%)Noncarriers: 447 (98.5%)OR, 0.38 (95% CI, 0.05–2.75)OR, 3.18 (95% CI, 1.52–6.66)The BRCA1 5382insC founder mutation was not tested in this series, so it is likely that some carriers of this mutation were not identified. Consequently, BRCA1-related risk may be underestimated. Gleason score 7–10 prostate cancer was more common in BRCA2 mutation carriers (85%) than in noncarriers (57%); P = .0002. BRCA1/2 mutation carriers had significantly greater risk of recurrence and prostate cancer–specific death than did noncarriers.
Cases: 6 (0.7%)Cases: 20 (2.4%)
Controls: 4 (0.9%)Controls: 3 (0.7%)

References

  1. Giusti RM, Rutter JL, Duray PH, et al.: A twofold increase in BRCA mutation related prostate cancer among Ashkenazi Israelis is not associated with distinctive histopathology. J Med Genet 40 (10): 787-92, 2003.  [PUBMED Abstract]

  2. Kirchhoff T, Kauff ND, Mitra N, et al.: BRCA mutations and risk of prostate cancer in Ashkenazi Jews. Clin Cancer Res 10 (9): 2918-21, 2004.  [PUBMED Abstract]

  3. 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]

  4. 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]