Genetic testing in advanced
prostate cancer (aPC)

Genetic testing can provide information to individualize treatment plans and optimize outcomes

Germline (inherited) testing should be conducted at initial diagnosis of prostate cancer in certain populations to understand if genetic mutations are present, as these are associated with high-risk cancer. Germline testing could also be conducted at the time of disease progression to metastatic disease, if not done previously. Knowing mutation status can also help determine the best treatment approach. This test can be done through saliva, blood, or tissue samples.1

 

Somatic (acquired) testing should be performed in patients once they receive a diagnosis of metastatic disease. If the patient still has his prostate, this test can be completed with a prostate biopsy of the cancer tissue to determine if any gene mutations are present.1,2

Up to 15% of men with metastatic prostate cancer have mutations in1:
Homologous recombination repair (HRR) genes, such as BRCA2, BRCA1, ATM, CHEK2, PALB2 
Mismatch repair (MMR) genes such as MLH1, MSH2, PMS2, and MSH6
Pathogenic variant HOXB13
Targeted treatments are available for patients who have prostate cancer with certain genetic mutations. These include PARP inhibitors which treat BRCA- or HRR-mutated mCRPC and pembrolizumab for patients with mCRPC who have MMR gene mutations leading to microsatellite instability (MSI) and deficient mismatch repair (dMMR).3-6

Many different tests can be done to target specific genes or by conducting a prespecified or large gene panel. Genetic counselors are available to help guide which test is appropriate for your patient and help interpret results. Some companies that offer genetic testing can help find a genetic counselor in your area.

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It is critical to perform genetic testing for patients with prostate cancer, and the earlier the better—results can help determine the treatment options most appropriate for your patient  

Performing genetic testing

Genetic testing is recommended by the National Comprehensive Cancer Network® for  prostate cancer—at the time of initial diagnosis, conduct germline testing in patients with any of the following1:

  • Positive family history of prostate cancer
  • Ashkenazi Jewish ancestry
  • Personal or family history of breast cancer
  • High-risk, very high-risk, regional, or metastatic prostate cancer regardless of family history

 

At the time of metastatic diagnosis, conduct tumor testing for HRR mutations in patients with metastatic prostate cancer if not previously performed, with consideration of reevaluation upon progression. Also consider1,2:

  • Tumor mutational burden testing
  • Tumor testing for MSI or dMMR
  • Multigene molecular testing
A medical professional with blue gloves and protection glasses pulls a test tube out of a test tube tray.

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