Review Article

The molecular biology of prostate cancer: current understanding and clinical implications

Published online:



With continuous progress over the past few decades in understanding diagnosis, treatment, and genetics, much has been learned about the prostate cancer-diagnosed genome.


A comprehensive MEDLINE® and Google scholar literature search was conducted using keyword variations relating to the genetics of prostate cancer such as chromosomal alterations, androgen receptor, castration-resistant, inheritance, polymorphisms, oncogenes, metastasis, biomarkers, and immunotherapy.


Traditionally, androgen receptors (AR) have been the focus of research. Recently, identification of recurrent chromosomal alterations that lead to either multiplication of regions (gain-of-function) or deletion of regions (loss-of-function) has opened the door to greater genetic accessibility. These chromosomal aberrations lead to variation in copy number and gene expression. Some of these chromosomal alterations are inherited, while others undergo somatic mutations during disease progression. Inherited gene mutations that make one susceptible to prostate cancer have been identified with familial-linked studies. Somatic genes that progress tumorigenesis have also been identified. Research on the molecular biology of prostate cancer has characterized these genes into tumor suppressor genes or oncogenes. Additionally, genome-wide assay studies have identified many high-risk single-nucleotide polymorphisms recurrent throughout the prostate cancer-diagnosed genome. Castration-resistant prostate cancer is the most aggressive form of prostate cancer, and its research has elucidated many types of mutations associated with AR itself, including enhanced expression and amplification, point mutations, and alternative splicing. Understanding the molecular biology of prostate cancer has permitted more accurate identification using advanced biomarkers and therapy for aggressive forms using immunotherapy.


An age-related disease, prostate cancer commands profound attention. With increasing life expectancy and the continuous pursuit of it, prostate cancer is a powerful obstacle best defeated using targeted therapies specifically designed for the unique molecular profile of the malignancy.

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The authors are thankful to Drs. Kelly Warren, Inefta Reid, Todd Miller, and Peter Brink for departmental support, as well as Mrs. Wendy Isser and Ms. Grace Garey for literature retrieval.

Author information


  1. Department of Physiology and Biophysics, Stony Brook University School of Medicine, Stony Brook, NY, USA

    • Jason Gandhi
    • , Adil Afridi
    • , Gargi Joshi
    •  & Sardar Ali Khan
  2. Medical Student Research Institute, St. George’s University School of Medicine, St. George’s, Grenada

    • Jason Gandhi
  3. Department of Cardiothoracic Surgery, Lenox Hill Hospital, New York, NY, USA

    • Sohrab Vatsia
  4. Department of Internal Medicine, Stony Brook Medicine at Southampton Hospital, Southampton, NY, USA

    • Gunjan Joshi
  5. Department of Urology, Icahn School of Medicine at Mount Sinai, New York, NY, USA

    • Steven A. Kaplan
  6. Men’s Wellness Program, Mount Sinai Health System, New York, NY, USA

    • Steven A. Kaplan
  7. Foley Plaza Medical, New York, NY, USA

    • Noel L. Smith
  8. Department of Urology, Stony Brook University School of Medicine, Stony Brook, NY, USA

    • Sardar Ali Khan


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Conflict of interest

The authors declare that they have no conflict of interest.

Corresponding author

Correspondence to Sardar Ali Khan.