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PubMed This is a summary of 33 peer-reviewed journal articles Updated
Oncology · Prostate Cancer

Should I Get Genetic Testing After Prostate Cancer?

At a Glance

People with metastatic or high-risk prostate cancer, or a strong family history of related cancers, should discuss inherited genetic testing with a genetic counselor. A positive result may guide treatment and helps biological relatives consider targeted testing and screening.

In this answer

7 sections

01

Who Should Get Tested?

02

What Genes Are Tested?

03

Germline vs. Tumor (Somatic) Testing

04

How Results Affect Your Treatment

05

What the Results Mean

06

Impact on Family Members

07

Genetic Counseling, Logistics, and Privacy

Learning that you have prostate cancer can be overwhelming. Deciding whether to undergo genetic testing—and potentially uncovering cancer risks for your family members—can add to that stress. However, understanding your inherited genetics can guide your treatment and help protect your loved ones. Genetic counselors can help you navigate this process.

Major medical guidelines agree that patients with metastatic prostate cancer, as well as those with high-risk localized disease, should be offered germline (inherited) genetic testing regardless of their family history [1][2]. You should also consider testing if you have a strong family history of certain cancers [3][4].

While some experts propose testing every patient, current guidelines focus on advanced disease and family history [5][2].

Who Should Get Tested?

Guidelines from organizations like the National Comprehensive Cancer Network (NCCN) and the American Society of Clinical Oncology (ASCO) recommend testing for specific groups. You should discuss testing if you fit into any of these categories:

  • Advanced or Metastatic Disease: This includes distant metastatic cancer (cancer that has spread to bones or other organs) and regional disease (cancer in nearby lymph nodes) [1][6].
  • High-Risk Localized Disease: If your cancer is confined to the prostate but is considered “high-risk” or “very-high-risk.” This is determined by a combination of a high PSA level, a high Gleason score (such as a Grade Group of 4 or 5), or the tumor’s stage [1][7].
  • Strong Family History: This generally means having multiple blood relatives on the same side of the family diagnosed with prostate, breast, ovarian, pancreatic, or Lynch syndrome-associated cancers (like colorectal or endometrial cancer). It is especially relevant if they were diagnosed at a young age, if there is a known genetic mutation in your family, or if you are of Ashkenazi Jewish descent [3][8].

Other factors, such as your age at diagnosis or specific patterns seen under a microscope (like intraductal or cribriform features), may also prompt your doctor to discuss testing, though the evidence making them independent triggers is mixed [9][10].

What Genes Are Tested?

Testing usually involves a “panel” looking for mutations (called pathogenic variants) in several genes. However, not all genes carry the same level of risk or the same implications for treatment:

  • DNA-repair genes: BRCA2 has the strongest evidence linking it to aggressive prostate cancer and treatment responses. Other genes tested include BRCA1, ATM, CHEK2, and PALB2 [11][6].
  • Lynch syndrome genes: Alterations in mismatch-repair genes (MLH1, MSH2, MSH6, PMS2, and EPCAM) can cause Lynch syndrome, increasing the risk for colorectal and prostate cancers [12][13].
  • HOXB13: A gene specifically associated with hereditary prostate cancer risk [14][6].

Germline vs. Tumor (Somatic) Testing

It is critical to distinguish between two types of testing used in advanced disease:

  • Germline testing looks for inherited mutations you were born with, using a blood or saliva sample. These mutations can be passed on to biological children [15][16].
  • Tumor (somatic) testing analyzes your prostate tumor tissue (or sometimes blood circulating tumor DNA) to find mutations acquired by the cancer cells over time. These are not inherited [17][15].

Both are often recommended in advanced disease, but they answer different questions [18][19]. Finding a mutation in a tumor does not prove it was inherited; you will need a separate germline test to confirm inheritance [17][19].

How Results Affect Your Treatment

In advanced prostate cancer, your results might inform your treatment options, though a genetic variant does not automatically guarantee you will receive or benefit from a specific drug:

  • PARP Inhibitors: These targeted therapies may be an option for metastatic castration-resistant prostate cancer (mCRPC, meaning it is spreading despite hormone therapy). Eligibility depends on the specific gene (evidence is strongest for BRCA1 and BRCA2), the exact drug’s regulatory approval in your region, and your prior treatments [20][21].
  • Immunotherapy: Patients whose tumors show a specific biomarker called mismatch-repair deficiency (dMMR) or high microsatellite instability (MSI-H) may be eligible for immune checkpoint inhibitors like pembrolizumab. This depends on the tumor’s biomarker status, not just having a germline Lynch syndrome mutation [22][19].
  • Platinum Chemotherapy: In some selected, advanced cases, doctors may consider platinum-based chemotherapy for tumors with certain DNA-repair mutations, though this is often variable and less standardized [22][23].

What the Results Mean

Understanding the possible results will prepare you for the next steps:

  • Positive (Pathogenic Variant Found): You have an inherited mutation that increases cancer risk. This may affect your treatment and means your biological relatives may also be at risk [6].
  • True Negative: If your family has a known mutation and you test negative for it, you did not inherit that specific risk [24].
  • Uninformative Negative: No mutation was found, but a strong family history means your family might still have an undiscovered genetic risk. Screening based on family history is still important [24][25].
  • Variant of Uncertain Significance (VUS): A gene change was found, but it is unknown if it affects cancer risk. A VUS should not be used to make treatment decisions. Laboratories sometimes reclassify a VUS later as they learn more, so it is important to stay in touch with your genetic counselor [26][27].

Impact on Family Members

If you have a pathogenic variant in most of these genes (which follow autosomal dominant inheritance), each of your biological children has a 50% chance of inheriting it. The chances for your siblings depend on whether one of your parents carries the variant [26][28].

Identifying an inherited mutation allows your relatives to undergo cascade testing—a targeted test looking only for your specific mutation [29][6]. If positive, they can start specialized screening. For example, female relatives with a BRCA mutation have elevated breast and ovarian cancer risks. Male relatives with a BRCA2 mutation often start prostate cancer screening at age 40 (or 10 years earlier than the youngest diagnosis in the family), though screening plans should always be individualized [6][30].

Genetic Counseling, Logistics, and Privacy

Testing is usually done via a blood draw or a saliva tube, with results returning in a few weeks [15][16]. Because of the complexity, genetic counseling with a qualified professional is highly recommended before and after testing [29][6].

A counselor will discuss:

  • Out-of-Pocket Costs: Insurance coverage varies, and a counselor can help determine your potential costs [31][16].
  • Privacy and Discrimination Laws: In the United States, the Genetic Information Nondiscrimination Act (GINA) prevents health insurers and most employers from discriminating based on genetic test results. However, GINA does not cover life insurance, disability insurance, or long-term care insurance [32][31]. Protections vary significantly by state and country, so it is crucial to discuss this before testing.
  • Family Communication: Counselors provide strategies for sharing difficult information with family members so they can seek their own testing [11][33].

Common questions in this guide

Who should consider inherited genetic testing after prostate cancer?
Testing should be discussed with people who have metastatic or regional prostate cancer, or high-risk or very-high-risk localized disease. It is also appropriate to discuss testing when there is a strong family history of prostate, breast, ovarian, pancreatic, colorectal, or endometrial cancer, a known family mutation, or Ashkenazi Jewish ancestry. Age at diagnosis and certain tumor features may also influence the decision.
How is inherited genetic testing different from tumor testing?
Inherited, or germline, testing uses blood or saliva to look for gene changes present throughout your body and potentially passed to biological children. Tumor, or somatic, testing looks for changes acquired by cancer cells in tumor tissue or circulating tumor DNA. A mutation found in a tumor does not prove it was inherited, so a separate germline test may be needed.
What does a positive prostate cancer genetic test mean for my family?
A pathogenic inherited variant can increase cancer risk for you and may be passed to biological relatives. For many of the genes discussed, each biological child has a 50% chance of inheriting the variant, while a sibling’s chance depends on whether a parent carries it. Relatives can ask about cascade testing, which checks specifically for the known family variant.
What do negative and uncertain genetic test results mean?
A true negative means you did not inherit a specific mutation already known in your family. An uninformative negative means no mutation was found, but family history may still indicate increased risk. A variant of uncertain significance should not guide treatment or other medical decisions; a genetic counselor can explain updates if the laboratory reclassifies it.
Can genetic test results change my prostate cancer treatment?
Sometimes, especially in advanced disease, results may help identify options such as PARP inhibitors for certain DNA-repair mutations. Tumors with mismatch-repair deficiency or high microsatellite instability may qualify for immunotherapy, while platinum chemotherapy may be considered in selected cases. Eligibility depends on the exact gene or tumor biomarker, drug approval, and prior treatment, so a variant does not guarantee a particular drug.
Does prostate cancer genetic testing affect insurance or privacy?
In the United States, GINA generally protects against discrimination by health insurers and most employers based on genetic information. It does not cover life, disability, or long-term-care insurance, and protections vary by state and country. Discuss privacy, costs, and any planned insurance changes with a qualified genetic counselor before testing.

Questions For You

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Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.Based on my cancer's stage, Gleason score, and my family history, do I meet the criteria for germline genetic testing?
  2. 2.Are you recommending both germline (blood/saliva) testing for inherited risk and somatic (tumor) profiling to guide my treatment options?
  3. 3.If my tumor profiling shows a DNA-repair mutation, will you order a separate germline test to confirm if it was inherited?
  4. 4.Can you refer me to a certified genetic counselor who can explain the privacy laws and insurance implications in our area before I take the test?
  5. 5.How will a positive result change my current treatment plan versus simply informing my family members?

References

References (33)
  1. 1

    Evaluating Germline Testing Panels in Southern African Males With Advanced Prostate Cancer.

    Gheybi K, Jiang J, Mutambirwa SBA, et al.

    Journal of the National Comprehensive Cancer Network : JNCCN 2023; (21(3)):289-296.e3 doi:10.6004/jnccn.2022.7097.

    PMID: 36898365
  2. 2

    Guidelines for genetic testing in prostate cancer: a scoping review.

    Tuffaha H, Edmunds K, Fairbairn D, et al.

    Prostate cancer and prostatic diseases 2024; (27(4)):594-603 doi:10.1038/s41391-023-00676-0.

    PMID: 37202470
  3. 3

    Diagnosing hereditary cancer predisposition in men with prostate cancer.

    Pritzlaff M, Tian Y, Reineke P, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(9)):1517-1523 doi:10.1038/s41436-020-0830-5.

    PMID: 32439974
  4. 4

    Improving Genetic Testing Uptake in Prostate Cancer: Outcomes From a Multidisciplinary Clinic Evaluation.

    Graham LS, Mantha A, Paul-Onyia C, et al.

    JCO oncology practice 2026; OP2501428 doi:10.1200/OP-25-01428.

    PMID: 42207997
  5. 5

    Germline and somatic testing for homologous repair deficiency in patients with prostate cancer (part 1 of 2).

    Armstrong AJ, Taylor A, Haffner MC, et al.

    Prostate cancer and prostatic diseases 2025; (28(3)):652-661 doi:10.1038/s41391-024-00901-4.

    PMID: 39354185
  6. 6

    Implementation of Germline Testing for Prostate Cancer: Philadelphia Prostate Cancer Consensus Conference 2019.

    Giri VN, Knudsen KE, Kelly WK, et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(24)):2798-2811 doi:10.1200/JCO.20.00046.

    PMID: 32516092
  7. 7

    Clinical Germline Testing Results of Men With Prostate Cancer: Patient-Level Factors and Implications of NCCN Guideline Expansion.

    Greenberg SE, Hunt TC, Ambrose JP, et al.

    JCO precision oncology 2021; (5()) doi:10.1200/PO.20.00432.

    PMID: 34250421
  8. 8

    A clinical guide to hereditary cancer panel testing: evaluation of gene-specific cancer associations and sensitivity of genetic testing criteria in a cohort of 165,000 high-risk patients.

    LaDuca H, Polley EC, Yussuf A, et al.

    Genetics in medicine : official journal of the American College of Medical Genetics 2020; (22(2)):407-415 doi:10.1038/s41436-019-0633-8.

    PMID: 31406321
  9. 9

    Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

    Pritchard CC, Mateo J, Walsh MF, et al.

    The New England journal of medicine 2016; (375(5)):443-53 doi:10.1056/NEJMoa1603144.

    PMID: 27433846
  10. 10

    Evaluation of intraductal carcinoma and invasive cribriform carcinoma as predictors of genetic mutations in systemic treatment-naïve prostate cancer patients.

    Lee S, Park I, Ahn B, et al.

    BMC cancer 2025; (25(1)):1736 doi:10.1186/s12885-025-15001-2.

    PMID: 41214561
  11. 11

    Germline genetics of prostate cancer.

    Khan HM, Cheng HH

    The Prostate 2022; (82 Suppl 1()):S3-S12 doi:10.1002/pros.24340.

    PMID: 35657157
  12. 12

    A prospective prostate cancer screening programme for men with pathogenic variants in mismatch repair genes (IMPACT): initial results from an international prospective study.

    Bancroft EK, Page EC, Brook MN, et al.

    The Lancet. Oncology 2021; (22(11)):1618-1631 doi:10.1016/S1470-2045(21)00522-2.

    PMID: 34678156
  13. 13

    Molecular Features and Clinical Management of Hereditary Pancreatic Cancer Syndromes and Familial Pancreatic Cancer.

    Kasuga A, Okamoto T, Udagawa S, et al.

    International journal of molecular sciences 2022; (23(3)) doi:10.3390/ijms23031205.

    PMID: 35163129
  14. 14

    Role of Genetic Testing for Inherited Prostate Cancer Risk: Philadelphia Prostate Cancer Consensus Conference 2017.

    Giri VN, Knudsen KE, Kelly WK, et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2018; (36(4)):414-424 doi:10.1200/JCO.2017.74.1173.

    PMID: 29236593
  15. 15

    DNA repair deficiency as circulating biomarker in prostate cancer.

    Catalano M, Generali D, Gatti M, et al.

    Frontiers in oncology 2023; (13()):1115241 doi:10.3389/fonc.2023.1115241.

    PMID: 36793600
  16. 16

    Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.

    Cheng HH, Sokolova AO, Gulati R, et al.

    JCO precision oncology 2023; (7()):e2200104 doi:10.1200/PO.22.00104.

    PMID: 36623239
  17. 17

    Gene-based Confirmatory Germline Testing Following Tumor-only Sequencing of Prostate Cancer.

    Truong H, Breen K, Nandakumar S, et al.

    European urology 2023; (83(1)):29-38 doi:10.1016/j.eururo.2022.08.028.

    PMID: 36115772
  18. 18

    Germline and Somatic Genomic Testing for Metastatic Prostate Cancer: ASCO Guideline.

    Yu EY, Rumble RB, Agarwal N, et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2025; (43(6)):748-758 doi:10.1200/JCO-24-02608.

    PMID: 39787437
  19. 19

    Genomic Testing in Patients with Metastatic Castration-resistant Prostate Cancer: A Pragmatic Guide for Clinicians.

    Merseburger AS, Waldron N, Ribal MJ, et al.

    European urology 2021; (79(4)):519-529 doi:10.1016/j.eururo.2020.12.039.

    PMID: 33494937
  20. 20

    Germline Testing for Prostate Cancer Patients: Evidence-Based Evaluation of Genes Recommended by NCCN Guidelines.

    Xu J, Lu J, Gielzak M, et al.

    The Prostate 2025; (85(12)):1087-1095 doi:10.1002/pros.24918.

    PMID: 40405569
  21. 21

    PARP inhibitors in advanced prostate cancer: when to use them?

    Díaz-Mejía N, García-Illescas D, Morales-Barrera R, et al.

    Endocrine-related cancer 2021; (28(8)):T79-T93.

    PMID: 34256353
  22. 22

    Germline and Somatic Mutations in Prostate Cancer for the Clinician.

    Cheng HH, Sokolova AO, Schaeffer EM, et al.

    Journal of the National Comprehensive Cancer Network : JNCCN 2019; (17(5)):515-521.

    PMID: 31085765
  23. 23

    Genetic aberrations of homologous recombination repair pathways in prostate cancer: The prognostic and therapeutic implications.

    Saeidi H, Bakrin IH, Raju CS, et al.

    Advances in medical sciences 2023; (68(2)):359-365 doi:10.1016/j.advms.2023.09.008.

    PMID: 37757663
  24. 24

    Mainstream Model of Genetic Testing for Prostate Cancer at a Large Tertiary Cancer Centre.

    Wang X, Waldman L, Silberman Y, et al.

    Clinical genitourinary cancer 2024; (22(3)):102052 doi:10.1016/j.clgc.2024.02.003.

    PMID: 38461085
  25. 25

    A qualitative study of the experiences of patients with prostate cancer when receiving negative genetic results: "I still don't have a grasp of what it all means".

    Zayhowski K, Wang C, Nahorniak M, et al.

    Journal of genetic counseling 2025; (34(3)):e2003 doi:10.1002/jgc4.2003.

    PMID: 39611226
  26. 26

    Germline and Somatic Tumor Testing in Epithelial Ovarian Cancer: ASCO Guideline.

    Konstantinopoulos PA, Norquist B, Lacchetti C, et al.

    Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2020; (38(11)):1222-1245 doi:10.1200/JCO.19.02960.

    PMID: 31986064
  27. 27

    Prevalence of Variant Reclassification Following Hereditary Cancer Genetic Testing.

    Mersch J, Brown N, Pirzadeh-Miller S, et al.

    JAMA 2018; (320(12)):1266-1274 doi:10.1001/jama.2018.13152.

    PMID: 30264118
  28. 28

    Cascade genetic testing: an underutilized pathway to equitable cancer care?

    Wilke RN, Bednar EM, Pirzadeh-Miller S, et al.

    Familial cancer 2024; (23(2)):141-145 doi:10.1007/s10689-024-00367-2.

    PMID: 38748383
  29. 29

    Evolving Intersection Between Inherited Cancer Genetics and Therapeutic Clinical Trials in Prostate Cancer: A White Paper From the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.

    Carlo MI, Giri VN, Paller CJ, et al.

    JCO precision oncology 2018; (2018()) doi:10.1200/PO.18.00060.

    PMID: 30761386
  30. 30

    Genetic/Familial High-Risk Assessment: Breast, Ovarian, and Pancreatic, Version 2.2021, NCCN Clinical Practice Guidelines in Oncology.

    Daly MB, Pal T, Berry MP, et al.

    Journal of the National Comprehensive Cancer Network : JNCCN 2021; (19(1)):77-102.

    PMID: 33406487
  31. 31

    Germline Genetic Testing in Advanced Prostate Cancer; Practices and Barriers: Survey Results from the Germline Genetics Working Group of the Prostate Cancer Clinical Trials Consortium.

    Paller CJ, Antonarakis ES, Beer TM, et al.

    Clinical genitourinary cancer 2019; (17(4)):275-282.e1 doi:10.1016/j.clgc.2019.04.013.

    PMID: 31171481
  32. 32

    Genetic Counseling for Men with Prostate Cancer.

    Hyatt C, McDougall C, Miller-Samuel S, Russo J

    The Urologic clinics of North America 2021; (48(3)):323-337 doi:10.1016/j.ucl.2021.03.004.

    PMID: 34210488
  33. 33

    Insight into how patients with prostate cancer interpret and communicate genetic test results: implications for families.

    Leader AE, Mercado J, Klein A, et al.

    Journal of community genetics 2022; (13(6)):547-556 doi:10.1007/s12687-022-00603-1.

    PMID: 35869324

This page explains when germline genetic testing may be considered after prostate cancer and how results can affect relatives. It is for informational purposes only and does not constitute medical advice; discuss your situation with your oncology and genetic counseling team.