Detection of Germline Variants in Patients With Localized and Metastatic Prostate Cancer Through Guideline-Based Testing
Document Type
Conference Proceeding
Publication Date
5-2025
Publication Title
Journal of Urology
Abstract
INTRODUCTION AND OBJECTIVE: Germline variants are frequently found in individuals with prostate cancer, the presence of which carries important implications for patients and their family members. Studies have demonstrated rates of germline variants of 9.4%- 16.2% in patients with metastatic prostate cancer and 15.5%-17.7% regardless of disease state. This current study sought to identify patient level demographic and clinical factors associated with pathogenic or likely pathogenic (P/LP) germline variants in a group of patients with metastatic and localized prostate cancer who qualified for NCCN genetic testing criteria. METHODS: Patients diagnosed with prostate cancer were offered germline genetic testing in accordance with NCCN guidelines. Cohort demographic, clinical, and pathologic data was collected prospectively. The association of the presence of a P/LP variant with patient-level factors was assessed using univariate and multivariate logistic regression. Variables were tested for overall significance with chi-squared tests. RESULTS: 505 patients with prostate cancer underwent germline genetic testing (264 with metastatic disease, 241 with localized disease). The rate of P/LP germline variants was 9.3% (47/505) in the total cohort, 7.6% (20/264) in patients with metastatic disease, and 11.2% (27/241) in patients with localized disease. The P/LP variants with the highest incidence were CHEK2 (34%), BRCA2 (22%), ATM (10%), and HOXB13 (10%). CONCLUSIONS: Within the study cohort, P/LP germline variants were found in similar proportions across all age ranges and clinical factors. The only clinical factor that demonstrated to be predictive of the presence of a P/LP germline variant was age at genetic testing for patients with metastatic disease. As such, is it crucial that education of providers on germline genetic testing includes a comprehensive set of patient-level factors.
Volume
213
Issue
5S
First Page
e375
Last Page
e375
Recommended Citation
Solorzano MA, Abusamra SM, Quarles J, Luke M, Patel M, Vince Jr. R, et al. [Hafron J]. Detection of germline variants in patients with localized and metastatic prostate cancer through guideline-based testing. J Urol. 2025 May;213(5S):e375. doi:10.1097/01.JU.0001109840.15154.ea.06
DOI
10.1097/01.JU.0001109840.15154.ea.06
Comments
American Urological Association Annual Meeting, April 26-29, 2025, Las Vegas, NV