It’s All in the Genes: PrCa Risk with Variation and Treatment

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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 in Prostate Cancer and Treatment Implications

Prostate Cancer
How prevalent are germline variants in prostate cancer and do they affect your patient’s treatment plan?
January 19, 2022

DELRAY BEACH, FL – Despite advancements in treatment and diagnosis, prostate cancer (shorthanded as PrCa in the literature) is the fifth leading cause of death for men worldwide and was the most diagnosed cancer in men living in North America. Besides African American ancestry and aging, family history is the only identified strong risk factor for development of prostate cancer.1 “Evidence exists for a substantial heritable component for overall PrCa risk, and familial clustering of high risk and fatal PrCa phenotypes.”2

A study in JAMA Oncology found that “17% of men with prostate cancer [have] germline genetic mutations. BRCAvariants accounted for more than 30% of the mutations, and a number of variants with known therapeutic implications (CHEK2, ATM, PALB2, MUTYH, etc.) were identified.”1 “The presence of these mutations and their proper identification, both before and after the development of cancer, Is relevant to the prevention, diagnosis and even treatment of affected patients.”3 Since genetic risk factors that predispose patients to more aggressive disease and lower survival rate have been identified, physicians could use this information to increase targeted screening of higher risk individuals, stop overtreatment of lower risk patients and inform treatment decisions; however, even though these identifications have been made, “prostate-specific antigen (PSA) remains the only biomarker to have been widely employed for PrCa detection to date.”2

“Recognizing the importance of BRCA germline mutations [and other heritable variations] in PrCa is particularly relevant in the clinical setting for several reasons, mainly because carriers present an increased lifetime risk of developing” prostate cancer, worse clinical outcomes and effectiveness of chosen treatment.3 Response to radiotherapy, platinum-based chemotherapy, androgen-deprivation therapy and use of PARP inhibitors are all life-saving considerations, only possible after the completion of a hereditary cancer test.

Understanding the real prevalence of germline variations in cancer predisposition genes, like BRCA, have substantial implications for clinical practice and treatment decisions. Each prostate cancer patient can have a personalized plan to better their disease outcome and it begins with germline testing.

  1. Massari G, Magnoni F, Favia G, et al. Frequency of CDH1Germline Mutations in Non-Gastric Cancers. Cancers (Basel). 2021;13(10):2321. Published 2021 May 12. doi:10.3390/cancers13102321
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