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Genetics of Prostate Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Genes With Potential Clinical Relevance in Prostate Cancer Risk

Table 8. Case-Control Studies in Ashkenazi Jewish Populations ofBRCA1andBRCA2and Prostate Cancer Risk continued...

These studies support the hypothesis that prostate cancer occurs excessively among carriers of AJ founder mutations and suggest that the risk may be greater among men with the BRCA2 founder mutation (6174delT) than among those with one of the BRCA1 founder mutations (185delAG; 5382insC). The magnitude of the BRCA2-associated risks differ somewhat, undoubtedly because of interstudy differences related to participant ascertainment, calendar time differences in diagnosis, and analytic methods. Some data suggest that BRCA-related prostate cancer has a significantly worse prognosis than prostate cancer that occurs among noncarriers.[16]

Other populations

The association between prostate cancer and mutations in BRCA1 and BRCA2 has also been studied in other populations. Table 9 summarizes studies that used case-control methods to examine the prevalence of BRCA mutations among men with prostate cancer from other varied populations.

Table 9. Case-Control Studies in Varied Populations ofBRCA1andBRCA2and Prostate Cancer Risk

StudyPopulationControlsMutation 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 assessedAnyBRCA1mutation: 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)
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