Genetic (Germline) Testing

Genetic testing (germline testing) in prostate cancer is important because an inherited gene mutation may be responsible for up to 10% of all prostate cancers. A family history increases a man’s risk for prostate cancer by up to 60%. 

How it's done

Genetic testing requires only a sample of your DNA, usually from a cheek swab or saliva. The collected sample is sent to a genetic testing laboratory. Technicians extract DNA from the sample and use various techniques to look for specific genetic changes, such as mutations in genes, changes in chromosomes, or variations in proteins.

1. Results:The results are usually available within a few weeks. They are sent to your healthcare provider or genetic counselor, who will explain what the results mean and discuss any next steps3.

2. Follow-Up:Depending on the results, you may need further testing or consultations with specialists.
   Genetic counseling is often recommended to help understand the implications of the test results for you and your family.
   

Risk Assessment: Identifies genetic mutations that may increase the risk of prostate cancer, helping to determine if an individual is at higher risk due to inherited factors.
Personalized Treatment: Helps in tailoring treatment plans based on the genetic profile of the cancer, potentially improving treatment outcomes.
Family Planning: Provides information that can be useful for family members, as certain genetic mutations can be inherited.
Key genes include:

- BRCA1 and BRCA2: DNA repair genes

- HOXB13: Developmental regulation gene

- ATM: Cell cycle checkpoint gene

- CHEK2: Cell damage response gene

Implications:

- May affect family member screening

- Can influence treatment decisions

- May qualify patients for specific clinical trials

- Important for precision medicine approaches