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Updated: Jun 11, 2025
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Microarray-based Identification of Individual HERV Loci Expression: Application to Biomarker Discovery in Prostate Cancer
Published on: November 2, 2013
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Detection of Germline Variants in Patients With Localized and Metastatic Prostate Cancer Through Guideline-Based
Sophia M Abusamra1,2, Marissa A Solorzano1,3, Jake Quarles4
1Department of Urology, University of Michigan, Ann Arbor, Michigan.
Urology Practice
|October 9, 2024
Summary
Germline variants are common in prostate cancer patients. Genetic testing identified pathogenic or likely pathogenic variants in 7.6% of metastatic and 11.2% of localized disease cases, with age being a factor only in metastatic cases.
Area of Science:
- Oncology
- Genetics
- Medical Diagnostics
Background:
- Increasing awareness of germline variants in prostate cancer patients.
- Germline variants have implications for patients and their families.
- Need to identify factors predicting pathogenic or likely pathogenic (P/LP) germline variants in prostate cancer.
Purpose of the Study:
- To understand factors associated with P/LP germline variants in prostate cancer patients.
- To evaluate patients qualifying for National Comprehensive Cancer Network genetic testing criteria.
Main Methods:
- Prospective registry of 505 prostate cancer patients undergoing genetic testing per National Comprehensive Cancer Network guidelines.
- Collected demographic, clinical, and pathologic data.
- Used logistic regression and chi-squared tests to assess associations between patient factors and P/LP variants.
Main Results:
- P/LP germline variants found in 7.6% of metastatic and 11.2% of localized prostate cancer patients.
- Most prevalent variants: CHEK2 (34%), BRCA2 (22%), ATM (10%), HOXB13 (10%).
- No significant association found between P/LP variants and most patient characteristics, except age in metastatic disease.
Conclusions:
- P/LP germline variants are present in similar proportions across various patient groups.
- Age at testing is predictive of P/LP variants only in patients with metastatic prostate cancer.
- Challenges remain in refining current clinical genetic testing guidelines for prostate cancer.
