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Genetic risk factors for prostate cancer

Heather H Cheng, MD, PhD
Peter S Nelson, MD
Section Editors
Jerome P Richie, MD, FACS
Nicholas Vogelzang, MD
W Robert Lee, MD, MS, MEd
Deputy Editor
Michael E Ross, MD


Prostate cancer is the most common cancer in men worldwide, with an estimated 1,600,000 cases and 366,000 deaths in 2015. Prostate cancer was the leading cause of cancer deaths for men in 29 countries [1].

The most important known risk factors for prostate cancer are age, ethnicity, and inherited genetic variants. The genetic risk factors for adenocarcinoma of the prostate are reviewed here. Other risk factors for prostate cancer are discussed separately. (See "Risk factors for prostate cancer".)


Prostate cancer has a strong genetic component. However, identifying specific genes that underlie the disease is challenging.

Evidence supporting the role of genetic factors comes from studies of relatives of patients with prostate cancer (linkage studies), genome-wide association studies (GWAS), patients from families with inherited mutations in known cancer predisposition genes (such as BRCA2 and BRCA1), and next-generation sequencing studies in men with metastatic prostate cancer. This observation, coupled with an association with more aggressive features, may contribute to strategies for the early detection, diagnosis, and management of prostate cancer in the context of certain deleterious variants (for example, in BRCA2) [2].

Contemporary studies have found a much higher prevalence of known inherited cancer predisposition genes (eg, BRCA2) than previously appreciated in men with aggressive prostate cancer. This observation may contribute to strategies for the early detection, diagnosis, and management.


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Literature review current through: May 2017. | This topic last updated: May 08, 2017.
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