Every June 11, World Prostate Cancer Day is observed, providing an opportunity to highlight the importance of prevention, early diagnosis, and a personalized approach to this disease. Although most cases occur sporadically, between 10 and 15 percent of prostate cancers have a hereditary component that can be identified through genetic testing.
Identifying patients with a genetic predisposition can not only help us understand the origin of the disease, but also guide treatment and identify family members at higher risk who might benefit from specific surveillance programs.
“Men who carry certain genetic variants may be at increased risk of developing prostate cancer.”
What is hereditary prostate cancer?
We refer to hereditary prostate cancer when the disease is linked to inherited pathogenic variants in genes that significantly increase the risk of developing certain types of cancer.
Among the best-known genes are BRCA1and BRCA2, which have traditionally been associated with breast and ovarian cancer but also play a significant role in prostate cancer. In addition, other genes such as ATM, CHEK2, PALB2, HOXB13, and those involved in DNA mismatch repair (MLH1, MSH2, MSH6, and PMS2) may contribute to hereditary predisposition.
Men who carry certain genetic variants may be at increased risk of developing prostate cancer, may develop it at a younger age, or may have more aggressive forms of the disease.
Who should consider genetic testing?
Major clinical guidelines recommend considering genetic testing for patients who exhibit any of the following characteristics:
1. Family history of cancer
Especially when several family members are affected by:
- Prostate cancer.
- Breast cancer, especially when diagnosed at a young age.
- Ovarian cancer.
- Pancreatic cancer.
- Colorectal cancer associated with Lynch syndrome.
The presence of several cases within the same family branch may indicate a shared hereditary predisposition.
2. Diagnosis of Metastatic Prostate Cancer
Patients with metastatic disease are more likely to have inherited genetic alterations; therefore, molecular testing is currently part of the clinical recommendations in many cases.
3. Early Diagnosis
Although there is no single cutoff age, diagnoses made before age 55 typically prompt a more detailed evaluation of family history and may lead to genetic testing.
4. High-risk or aggressive tumors
Certain clinical or pathological features may suggest the need for additional genetic testing to optimize the treatment strategy.
DG Prostate Cancer: Genetic Panel for Hereditary Predisposition
Since multiple genes may be involved in hereditary risk, multigene panels are currently the most efficient strategy for molecular diagnosis.
Dreamgenics' Prostate Cancer DG Panel simultaneously analyzes 25 genes associated with hereditary predisposition to and the development of prostate cancer:
ATM, AR, BRCA1, BRCA2, CDH1, CHEK2, CTNNA1, EHBP1, ELAC2, EPCAM, EPHB2, HNF1B, HOXB13, MLH1, MSH2, MSH6, MSMB, MSR1, NBN, PALB2, PMS2, RAD51D, RNASEL, SRD5A2, and STK11.
This panel includes genes widely recognized in international guidelines for the assessment of hereditary predisposition, as well as other genes for which there is scientific evidence linking them to prostate cancer risk.
Joint analysis makes it possible to:
- Identify hereditary pathogenic variants.
- Improve the characterization of genetic risk.
- To facilitate more personalized clinical decisions.
- Identify family members who are candidates for predictive testing.
- Contribute to early warning strategies.
What are the benefits of genetic testing for prostate cancer?
Genetic testing can provide relevant information for:
The patient
- Confirm a genetic predisposition.
- Optimize treatment decisions.
- Assess eligibility for targeted therapies.
- Improve prognostic stratification.
The Family
When an inherited variant is identified, family members can undergo predictive testing to determine whether they carry the same genetic mutation.
This makes it possible to establish personalized monitoring programs and detect potential tumors at earlier stages.
Conclusion
Understanding the genetic basis of prostate cancer is transforming clinical practice. Identifying hereditary variants makes it possible to improve diagnosis, guide treatment, and develop preventive strategies for at-risk family members.
Multigene panels such as the Prostate Cancer DG panel, which include analysis of 25 genes associated with hereditary predisposition, are a fundamental tool in personalized and precision medicine applied to oncology.
BIBLIOGRAPHY
- Presutti S, Panio E, Nero C, et al. BRCA2 and genetic mutations in prostate cancer: an updated practical guide on “when and how” to test according to international guidelines. Minerva Urology and Nephrology. 2025;77(2):152-155.
- Cornford P, van den Bergh RCN, Briers E, et al. EAU-EANM-ESTRO-ESUR-ISUP-SIOG Guidelines on Prostate Cancer – 2024 Update. Part I: Screening, Diagnosis, and Local Treatment with Curative Intent. European Urology. 2024;86(2):148-163.
- Xu J, Lu J, Gielzak M, et al. Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines. Prostate. 2025;85(12):1087-1095.
- National Comprehensive Cancer Network (NCCN). Genetic/Familial High-Risk Assessment: Breast, Ovarian, Pancreatic, and Prostate. Version 3.2025. Cited and analyzed in recent studies on germline testing for prostate cancer.
