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Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines
Jianfeng Xu1,2,3, Jim Lu4, Marta Gielzak5
1Program for Genomic Translational Research, Endeavor Health, Evanston, Illinois, USA.
The Prostate
|May 23, 2025
Summary
Germline genetic testing for prostate cancer (PCa) is recommended for many patients, but evidence for specific genes is limited. This study identifies key genes like BRCA2 and ATM associated with PCa risk and aggressiveness.
Area of Science:
- Genetics
- Oncology
- Bioinformatics
Background:
- Many prostate cancer (PCa) patients meet guidelines for germline testing.
- Understanding the evidence and interpretation of genes for testing remains a challenge.
Purpose of the Study:
- To evaluate the evidence supporting NCCN-recommended genes for germline testing in PCa.
- To clarify the clinical utility of germline variants for risk assessment, prognosis, and treatment.
Main Methods:
- An evidence-based evaluation of NCCN-recommended genes using UK Biobank and Johns Hopkins data.
- Logistic regression analysis of germline pathogenic/likely pathogenic (P/LP) variants in 22,052 PCa patients and 191,055 controls.
Main Results:
- Five genes (HOXB13, BRCA2, ATM, CHEK2, MSH2) showed significant association with PCa risk.
- BRCA2 and ATM variants linked to PCa aggressiveness and PARPi therapy response.
- Germline variants in BRCA2 (0.77%) and BRCA1 (0.14%) were found in PCa patients.
Conclusions:
- Statistical evidence supports only a subset of NCCN-recommended genes for germline testing.
- This analysis can assist urologists in making informed decisions regarding PCa germline testing, risk, and treatment.
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