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.
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.
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
Pathology Results
When your prostate was biopsied, the samples taken were studied under the microscope by a pathologist, a doctor with many years of specialized training. The pathologist sends your doctor a report that gives a diagnosis for each sample taken and an overall assessment of the risk of cancer (if any). Your prognosis and treatment are based on that report, so you want the report to be accurate. For this reason, we strongly recommend a second opinion on your biopsy. Although the pathologist is highly skilled, (s)he is human - up to 30% of pathology results are changed in the second opinion.. It’s well worth it.
Screening Tests
DRE, PSA Discovery of prostate cancer starts with screening, usually with a PSA blood test or DRE (Digital Rectal Exam). If these or other tests suggest that you might have prostate cancer, you will most likely follow up with a prostate biopsy.
Genomic (Somatic) Testing
Genomic testing for prostate cancer (also called Biomarker testing or somatic testing) involves analyzing the genetic material (the entire genome) of prostate cells. It allows you and your medical team to make informed decisions about management and treatment of the disease.
Biomarker testing can be especially helpful for people who are newly diagnosed with prostate cancer that's still confined to the prostate. Genomic tests can cost between $3,800 and $5,000, but are usually covered by Medicare and some private insurers.
Important mutations include:
- PTEN loss
- TP53 mutations
- TMPRSS2-ERG fusion
- AR amplification
- DNA repair defects
Applications:
- Treatment selection
- Prognosis assessment
- Clinical trial eligibility
- Resistance monitoring