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Table 9. Case-Control Studies in Varied 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 
CI = confidence interval; OR = odds ratio; RR = relative risk; SIR = standardized incidence ratio.
Johannesdottir et al. (1996) [17]75 Icelandic men diagnosed with prostate cancer <65 y, between 1983 and 1992, with available archival tissue blocks499 randomly selected DNA samples from the Icelandic National Diet SurveyNot assessedCases: 999del5 (2.7%)Not assessed999del5: RR, 2.5 (95% CI, 0.49–18.4)
Controls: (0.4%)
Eerola et al. (2001) [18]107 Finnish hereditary breast cancer families defined as having three first- or second-degree relatives with breast or ovarian cancer at any ageFinnish population based on gender, age, and calendar period–specific incidence ratesNot assessedNot assessedSIR, 1.0 (95% CI, 0.0–3.9)SIR, 4.9 (95% CI, 1.8–11.0)
Cybulski et al. (2013) [19]3,750 Polish men with prostate cancer unselected for age or family history and diagnosed between 1999 and 20123,956 Polish men with no history of cancer aged 23–90 yCases: 14 (0.4%)Not assessedAny BRCA1 mutation: OR, 0.9; (95% CI, 0.4–1.8)Not assessedProstate cancer risk was greater in familial cases and cases diagnosed <60 y.
4153delA: OR, 5.3 (95% CI, 0.6–45.2)
Controls: 17 (0.4%)5382insC: OR, 0.5 (95% CI, 0.2–1.3)
C61G: OR, 1.1 (95% CI, 1.6–2.2)


  1. Johannesdottir G, Gudmundsson J, Bergthorsson JT, et al.: High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients. Cancer Res 56 (16): 3663-5, 1996.  [PUBMED Abstract]

  2. Eerola H, Pukkala E, Pyrhönen S, et al.: Risk of cancer in BRCA1 and BRCA2 mutation-positive and -negative breast cancer families (Finland). Cancer Causes Control 12 (8): 739-46, 2001.  [PUBMED Abstract]

  3. Cybulski C, Wokołorczyk D, Kluźniak W, et al.: An inherited NBN mutation is associated with poor prognosis prostate cancer. Br J Cancer 108 (2): 461-8, 2013.  [PUBMED Abstract]