Dr. Rana on the Prevalence of Pathogenic Variants in Prostate Cancer

Huma Q. Rana, MD, MPH, an assistant professor of medicine at Dana-Farber Cancer Institute and the clinical director of Cancer Genetics and Prevention at Harvard Medical School, discusses the prevalence of pathogenic variants in patients with prostate cancer enrolled on the ProGen study.

The ProGen study enrolled patients with prostate cancer and a family history indicative of a pathogenic variant who were then randomized 1:3 to in-person genetic counseling or video education. The goal of the trial was to evaluate completion of the intervention, uptake of genetic testing, satisfaction, knowledge, and distress over time by randomization arm. Investigators also wanted to identify clinical factors associated with presence of pathogenic variants in cancer susceptibility genes.

The main actionable finding from the study showed that among men with advanced prostate cancer, pathogenic variants or likely pathogenic variants in genes are responsible for homologous recombination repair, explains Rana; this includes genes such as BRCA1/2, and other genes within the same homologous recombination Fanconi anemia DNA repair pathway, such as PALB2, CHEK2, and ATM.

Additionally, 13% of patients were found to have a pathogenic variant. Of those subjects, 32% were positive for a BRCA1/2 pathogenic or likely pathogenic variant, concludes Rana.