This rationale has been reflected in the most recent National Comprehensive Cancer Network (NCCN) guidelines for 2020, while only 2 years ago genetic testing was not widely promoted. Now clinical investigation on the part of physicians must include the consideration that just as having a father or brother with prostate cancer can double a man’s risk of developing prostate cancer, having a mother or sister with breast or ovarian cancer can increase this same man’s risk of developing prostate cancer. The increased risk is specifically correlated to the BRCA1 and BRCA2 DNA repair genes, which have been well established as genes whose mutations confer an increased chance of breast and ovarian cancer development in women. The discovery of germline DNA repair gene mutations is significant in that it changes the entire paradigm of family history investigation algorithms that occur during the first clinical encounter with a patient with a new diagnosis of prostate cancer. 3 This distinction is important because new data suggest that patients with prostate cancer with BRCA2 mutations have earlier onset of disease, lower overall survival rates, and shorter progression-free survival rates. However, recent discoveries in the last 5 years have indicated that up to 12% of all men with mCRPC have germline/inherited defects in DNA repair genes. 2 It was previously thought that these patients harbored somatic mutations that could develop at any time in a patient’s life, with the frequency of these DNA repair aberrancies increasing with continued disease progression. 1 It was well known for many years that approximately a quarter of men who develop metastatic castration-resistant prostate cancer (mCRPC) have a mutation in DNA repair genes, with the most common mutated genes being BRCA2 (44%), ATM (13%), CHEK2 (12%), and BRCA1 (7%). The American Cancer Society estimates that in 2020, there will be 191,930 new cases and 33,330 deaths from prostate cancer.

In recent years, prostate cancer has grown to become the most common carcinoma affecting men in terms of incidence and the second most common in terms of mortality.

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