Prostate cancer develops through a combination of environmental and hereditary factors. While age, race, and diet influence risk, approximately 5 to 10 percent of all prostate cancer cases are associated with inherited mutations. The most well-established genes linked to prostate cancer include BRCA1, BRCA2, HOXB13, ATM, CHEK2, and mismatch repair genes such as MLH1, MSH2, MSH6, and PMS2. Men with BRCA2 mutations face a two- to six-fold higher risk of developing prostate cancer, often at a younger age and with more aggressive features. Identifying these genetic variants enables clinicians to identify individuals who may benefit from earlier and more frequent screening, thereby improving outcomes through timely detection. Somatic mutations that arise in tumor cells can also inform treatment decisions, as genetic sequencing of tumor tissue can identify mutations that predict response to targeted therapies such as PARP inhibitors or immunotherapy.

Genetic testing offers valuable applications throughout the continuum of prostate cancer care. For men with a strong family history, germline testing offers insight into inherited risks and enables relatives to consider cascade testing. For those already diagnosed, molecular profiling refines prognosis and guides therapy. For example, tumors with DNA repair defects may respond favorably to PARP inhibitors, such as olaparib. In contrast, patients with mismatch repair deficiencies may be eligible for immune checkpoint inhibitors. Beyond individual care, genetic testing contributes to precision oncology by linking genomic data to clinical outcomes. These insights enable researchers and clinicians to develop new therapeutic targets and optimize treatment algorithms.

Despite its promise, the implementation of genetic testing in prostate cancer faces several obstacles. Cost and inconsistent insurance coverage remain significant barriers, particularly for patients with limited access to healthcare. The interpretation of genetic results also requires specialized expertise, yet there is a national shortage of trained genetic counselors. Ethical concerns, including anxiety over hereditary risk and fear of genetic discrimination, continue to influence patients’ willingness to undergo testing. Although the Genetic Information Nondiscrimination Act offers legal protection, misconceptions persist. Moreover, racial and socioeconomic disparities contribute to unequal access to testing, particularly among populations that already experience higher prostate cancer mortality. Ensuring affordable and equitable access to both testing and counseling is essential to maximizing the benefits of genetic medicine.