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Table 10. Case Series of BRCA1 and BRCA2 and Prostate Cancer Risk

Study Population Mutation Frequency (BRCA1) Mutation Frequency (BRCA2) Prostate Cancer Risk (BRCA1) Prostate Cancer Risk (BRCA2) Comments 
Agalliu et al. (2007) [21]290 men (white, n = 257; African American, n = 33) diagnosed with prostate cancer <55 y and unselected for family historyNot assessed2 (0.69%)Not assessedRR, 7.8 (95% CI, 1.8–9.4)No mutations were found in African American men.
The two men with a mutation reported no family history of breast cancer or ovarian cancer.
Agalliu et al. (2007) [22]266 individuals from 194 hereditary prostate cancer families, including 253 men affected with prostate cancer; median age at prostate cancer diagnosis: 58 yNot assessed0 (0%)Not assessedNot assessed31 nonsynonymous variations were identified; no truncating or deleterious mutations were detected.
Tryggvadóttir et al. (2007) [23]527 men diagnosed with prostate cancer between 1955 and 2004Not assessed30/527 (5.7%) carried the Icelandic founder mutation 999del5Not assessedNot assessedThe BRCA2 999del5 mutation was associated with a lower mean age at prostate cancer diagnosis (69 vs. 74 y; P = .002)
Kote-Jarai et al. (2011) [24]1,832 men diagnosed with prostate cancer between ages 36 and 88 y who participated in the UK Genetic Prostate Cancer StudyNot assessedOverall: 19/1,832 (1.03%)Not assessedRR, 8.6a (95% CI, 5.1–12.6)MLPA was not used; therefore, the mutation frequency may be an underestimate, given the inability to detect large genomic rearrangements.
Prostate cancer diagnosed ≤55 y: 8/632 (1.27%)
Leongamornlert et al. (2012) [25]913 men with prostate cancer who participated in the UK Genetic Prostate Cancer Study; included 821 cases diagnosed between ages 36 and 65 y, regardless of family history, and 92 cases diagnosed >65 y with a family history of prostate cancerAll cases: 4/886 (0.45%)Not assessedRR, 3.75a (95% CI, 1.02–9.6)Not assessedQuality-control assessment after sequencing excluded 27 cases, resulting in 886 included in the final analysis.
Cases ≤65 y: 3/802 (0.37%)

CI = confidence interval; MLPA = multiplex ligation-dependent probe amplification; RR = relative risk.
aEstimate calculated using relative risk data in UK general population.


  1. Agalliu I, Karlins E, Kwon EM, et al.: Rare germline mutations in the BRCA2 gene are associated with early-onset prostate cancer. Br J Cancer 97 (6): 826-31, 2007.  [PUBMED Abstract]

  2. Agalliu I, Kwon EM, Zadory D, et al.: Germline mutations in the BRCA2 gene and susceptibility to hereditary prostate cancer. Clin Cancer Res 13 (3): 839-43, 2007.  [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. Kote-Jarai Z, Leongamornlert D, Saunders E, et al.: BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients. Br J Cancer 105 (8): 1230-4, 2011.  [PUBMED Abstract]

  5. Leongamornlert D, Mahmud N, Tymrakiewicz M, et al.: Germline BRCA1 mutations increase prostate cancer risk. Br J Cancer 106 (10): 1697-701, 2012.  [PUBMED Abstract]