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

While genetic testing for prostate cancer is not yet standard clinical practice, research from selected cohorts has reported that prostate cancer risk is elevated in men with mutations in BRCA1, BRCA2, and on a smaller scale, in mismatch repair (MMR) genes. Since clinical genetic testing is available for these genes, information about risk of prostate cancer based on alterations in these genes is included in this section. In addition, mutations in HOXB13 were reported to account for a proportion of hereditary prostate cancer. Although clinical testing is not yet available for HOXB13 alterations, it is expected that this gene will have clinical relevance in the future and therefore it is also included in this section. The genetic alterations described in this section require further study and are not to be used in routine clinical practice at this time.


Studies of male BRCA1[1] and BRCA2 mutation carriers demonstrate that these individuals have a higher risk of prostate cancer and other cancers.[2]

BRCAmutation–associated prostate cancer risk

The risk of prostate cancer in BRCA mutation carriers has been studied in various settings.

In an effort to clarify the relationship between BRCA mutations and prostate cancer risk, findings from several case series are summarized in Table 5.

Table 5. Case Series ofBRCAMutations in Prostate Cancer

StudyPopulationProstate Cancer Risk (BRCA1)Prostate Cancer Risk (BRCA2)
BCLC = Breast Cancer Linkage Consortium; CI = confidence interval; OCCR = Ovarian Cancer Cluster Region; RR = relative risk.
a Includes all cancers except breast, ovarian, and nonmelanoma skin cancers.
BCLC, 1999[3]BCLC family set that included 173BRCA2linkage– or mutation–positive families, among which there were 3,728 individuals and 333 cancersaNot assessedOverall: RR, 4.65 (95% CI, 3.48–6.22)
Men <65 y: RR, 7.33 (95% CI, 4.66–11.52)
Thompson et al., 2001[4]BCLC family set that included 164BRCA2mutation–positive families, among which there were 3,728 individuals and 333 cancersaNot assessedOCCR: RR, 0.52 (95% CI, 0.24–1.00)
Thompson et al., 2002[1]BCLC family set that included 7,106 women and 4,741 men, among which 2,245 wereBRCA1mutation carriers; 1,106 were tested noncarriers, and 8,496 were not tested for mutationsOverall: RR, 1.07 (95% CI, 0.75–1.54)Not assessed
Men younger than 65 y: RR, 1.82 (95% CI, 1.01–3.29)
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