The authors of this study aimed to characterize the results of germline genetic testing performed in a unique genetic high-risk prostate cancer clinic in Israel. The criteria for genetic testing is shown in table 1. Table 2 demonstrates the BRCA Jewish founder mutation genetic panel.
Table 1: Criteria for genetic testing:
The results of the study are shown in figure 1. A total of 138 patients underwent genetic testing. A total of 37 patients had known family mutation. A total of 27 mutation carriers were identified. 3 patients tested positive for BRCA Jewish founder mutations, 12 tested positive in a multiple gene panel, and 12 patients tested positive for specific known mutations.
Figure 1 – Patient flow diagram:
The authors concluded that a high percentage of familial germline prostate cancer mutations exists. The identified germline mutation increases the risk of several malignancies. Importantly, Uro-onclogists should be minded to the importance of genetic counseling for prostate cancer.
Presented by: David Margel, MD, Ph.D., Rabin Medical Center, Tel Aviv, Israel
Written By: Hanan Goldberg, MD, Urologic Oncology Fellow (SUO), University of Toronto, Princess Margaret Cancer Centre @GoldbergHanan at the 34th European Association of Urology (EAU 2019) #EAU19 conference in Barcelona, Spain, March 15-19, 2019.