A prospective cohort study, EMBRACE, found that men with germline pathogenic BRCA1/2 mutations had a higher risk for prostate cancer.1 Published in European Urology, a recent editorial evaluated the study and its findings to determine how best to screen men for prostate cancer who have these mutations.2

“This study adds considerable evidence that there is a higher risk of prostate cancer for men with DDR [DNA damage repair] BRCA1/2 gene mutations, but it has limitations,” the editorial authors wrote.

The study was limited by not having study participants undergo routine prostate-specific antigen (PSA) testing and because patient PSA values were not documented.

According to the editorial authors, this limitation means that the absolute prostate cancer risk estimates for men with BRCA1/2 mutations may not be representative of the risk in countries with “more intensive screening.” Also, whether the predictive value of PSA differs in this population of men is unknown.

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While imaging may have a diagnostic role in this patient population, the study began before magnetic resonance imaging (MRI) was commonly used; this is another limitation. As imaging becomes more common, particularly in the case of multiparametric MRI, the number of men diagnosed with prostate cancer could change.

The editorial authors concluded that while patients with germline DDR abnormalities should be told that they have a higher risk of prostate cancer, the “best way” to screen these men “remains unclear.”

A multicenter prospective study (ClinicalTrials.gov Identifier: NCT03805919) led by the National Cancer Institute is currently under way in which men at a high genetic risk for prostate cancer, including those with germline BRCA1/2 mutations, will be followed for the development of prostate cancer. The study will include routine PSA screening and MRI, as well as other examination methods.

References

  1. Nyberg T, Frost D, Barrowdale D, et al. Prostate cancer risks for male BRCA1 and BRCA2 mutation carriers: A prospective cohort study [published online September 5, 2019]. Eur Urol. doi: 10.1016/j.eururo.2019.08.025
  2. Karzai F, Madan RA, and Dahut WL. How do we respond to men with BRCA mutations when they ask about prostate cancer? [published online October 29, 2019] Eur Urol. doi: 10.1016/j.eururo.2019.10.001