Giri VN, Gross L, Gomella LG, Hyatt, C. How I do It: Genetic counseling and genetic testing for inherited prostate cancer. Can J Urol. 2016 Apr; 23(2):8247-53.
Genetic counseling and genetic testing guidelines for prostate cancer are slowly emerging, which emphasizes the need for urologists and other providers involved in the care of prostate cancer patients to consider referring appropriate prostate cancer patients for genetic counseling. This paper highlights the key elements involved in prostate cancer risk assessment, current knowledge of genetic contribution to prostate cancer, and factors for urologists and other providers to consider when referring prostate cancer patients for genetic counseling.
Pilie PG, Giri VN, Cooney KA. HOXB13 and other high penetrant genes for prostate cancer. Asian J Androl 2016; 18:530-2.
Identification of highly penetrant genes in hereditary prostate cancer has proven challenging. However, it is becoming increasingly important to identify these individuals with germline mutations at higher risk for prostate cancer, given that there are no uniformly recommended prostate cancer screening practices for the general population of men in the United States.
Nicolas E, Arora S, Zhou Y, Serebriiskii IG, Andrake MD, Handorf ED, Bodian DL, Vockley JG, Dunbrack RL, Ross EA, Egleston BL, Hall MJ, Golemis EA, Giri VN, Daly MB. Systematic evaluation of underlying defects in DNA repair as an approach to case-only assessment of familial prostate cancer. Oncotarget. 2015 Nov 24; 6(37):39614-33.
The goal of this study was to develop an operational framework to select and evaluate gene variants that may contribute to familial prostate cancer risk. This work suggests the value of focusing on underlying defects in DNA damage in familial prostate cancer risk assessment and demonstrates an operational framework for exome sequencing in case-only prostate cancer genetic evaluation.
Hall MJ, Forman AD, Pilarski R, Wiesner G, Giri VN. Gene panel testing for inherited cancer risk. J Natl Compr Canc Netw. 2014 Sep; 12(9):1339-46. Review.
This article describes the many gene panel testing options clinically available to assess inherited cancer susceptibility, the potential advantages and challenges associated with various types of panels, clinical scenarios in which gene panels may be particularly useful in cancer risk assessment, and testing and counseling considerations.
Handorf E, Crumpler N, Gross L, Giri VN. Prevalence of the HOXB13 G84E mutation among unaffected men with a family history of prostate cancer. J Genet Couns. 2014 Jun; 23(3):371-6.
The goal of this analysis was to assess the prevalence of the HOXB13 G84E mutation in ethnically-diverse high-risk men undergoing prostate cancer screening and place the carrier frequency within the context of prevalence estimates from reported studies to gain insight into the future role of this mutation in genetic counseling. While the HOXB13 G84E mutation may be rare, there may be a future role in genetic testing for this mutation after further studies of clinical utility in assessing prostate cancer risk.