It’s All in the Genes: Genetic Testing in Prostate Cancer Active Surveillance

Have Any Questions?


Holly Magliochetti

Genetics Institute of America

Genetics Institute of America (GIA) is a national laboratory dedicated to heightening the awareness of early intervention and genetic screening to promote the longevity and quality of life outcomes.  


It’s All in the Genes: 

Germline Variations Affect Prostate Cancer Prognosis and Surveillance

Prostate Cancer
June 22, 2022

DELRAY BEACH, FL – With one million cases reported every year, prostate cancer (PCa) is becoming one of the world’s most common cancers diagnosed in men. The mortality rate is still high with over 375,000 men dying of PCa in 2020. 1

PCa screening is reducing mortality, but “studies have shown that the prevention of 1 death from PCa may require active treatment of up to 48 men at a median follow-up of 9 years.”2 This could mean that tumor screening has led to overdiagnosis and treatment of cancers that may not be life-threatening. Men, who are categorized as low risk for aggressive PCa, are monitored through active surveillance (AS) through biopsies and other interventions to monitor their cancer progression and risk status. However, despite the number of men undergoing AS, almost half the men diagnosed with PCa will develop more aggressive tumor characteristics during a 15-year surveillance and “a prevailing concern is that AS may lead to a delay in treatment and may miss a treatment window for cure. As such, biomarkers that can help distinguish aggressive disease are greatly needed.”2

Germline genetic testing can serve as that necessary biomarker to distinguish patients that will likely develop aggressive PCa versus the patients that could continue AS. BRCA2 and ATM germline pathogenic variations are strongly associated with aggressive tumors in prostate cancer, as well as poor clinical outcomes. “…25% of men with metastatic cancer will harbor gene mutations, and many of these men may show improved and sustained responses to specific therapies, including Poly (ADP-ribose) polymerase inhibitors, platinum based-therapies, and immunotherapies.”2

Despite available research and national guidelines from governing bodies, like the National Comprehensive Cancer Network, “most clinicians continue to lack recognition that germline testing has utility for guiding many other clinical decisions related to the management of PCa, including screening and prognosis.”2 The clinical utility of germline testing is well-defined, including predicting PCa risk, predicting disease aggressiveness at time of diagnosis and response to drug therapy.2

“Germline testing should play a significant role in PCa screening and clinical decision making of all men with newly diagnosed PCa, including those with seemingly very-low- and low-risk tumors considering AS,” not just men with advanced PCa.1

  1. Sung H, Ferlay J, Siegel RL, et al. Global Cancer Statistics 2020: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries. CA Cancer J Clin. 2021;71(3):209-249. doi:10.3322/caac.21660
  2. Helfand BT, Xu J. Germline Testing for Prostate Cancer Prognosis: Implications for Active Surveillance. Urol Clin North Am. 2021;48(3):401-409. doi:10.1016/j.ucl.2021.04.003
Tags :
Share This :