Genetic Testing for Breast Cancer: Understanding Your Options

Genetic testing can provide valuable insights into your breast cancer risk and help inform important healthcare decisions. This comprehensive guide will help you understand what genetic testing involves, who should consider it, and how the results can empower you to take control of your health.

What is Genetic Testing for Breast Cancer?

Genetic testing is a medical tool that analyzes DNA from a saliva sample to identify inherited gene mutations that may increase your risk of developing breast cancer. While most breast cancers are not inherited, about 5-10% of cases are related to specific genetic mutations passed down through families. Modern testing methods have made the process simple and accessible, requiring only a small saliva sample that can be analyzed to reveal important information about your genetic profile.

Understanding Hereditary Breast Cancer

Hereditary breast cancer predispositions occur when specific gene mutations are passed from parent to child. These mutations significantly increase the lifetime risk of developing breast cancer compared to the general population. Understanding your genetic risk can help you and your healthcare team make informed decisions about prevention, screening, and treatment strategies, which can be critical in the prevention or early treatment of cancers.

Key Genes Associated with Breast Cancer Risk

Many genes can influence breast cancer risk when mutations are present, including:

• BRCA1 and BRCA2 genes: Mutations in these genes account for about half of hereditary breast cancers and significantly increase lifetime risk. People with these mutations may have up to a 70% chance of developing breast cancer by age 80.

• PALB2: Mutations in this gene can increase breast cancer risk to levels similar to BRCA2 mutations. Studies have shown that PALB2 mutations may increase lifetime breast cancer risk to around 50-60%.

• Additional High-Risk Genes: Mutations in genes such as ATM, CDH1, CHEK2, and TP53 can also increase breast cancer risk. These genes are often included in comprehensive genetic panel testing.

‍

Who Should Consider Genetic Testing?

Genetic testing may be recommended if you have:

• Been diagnosed with breast cancer at age 50 or younger
• Family member(s) with breast cancer, particularly when diagnosed at younger ages
• Ashkenazi Jewish ancestry, which carries a higher likelihood of BRCA1/2 mutations
• A family history of ovarian, pancreatic, or male breast cancer
• A known BRCA or other high-risk genetic mutation in your family
• Multiple types of BRCA-related cancers in your family history
• Been diagnosed with triple-negative breast cancer before age 60

‍

The Genetic Testing Process

The testing process with jscreen is designed to be straightforward and non-invasive:

1. Order Your Kit: Visit www.jscreen.org to order your at-home saliva testing kit. The ordering process is simple and includes a comprehensive health questionnaire to ensure appropriate testing.

2. Sample Collection: Provide a saliva sample using a simple collection kit. This can often be done during your office visit or at home with a certified testing kit.

3. Laboratory Analysis: Your sample is sent to a specialized laboratory for comprehensive genetic analysis. The lab will examine specific genes known to impact breast cancer risk as well as risks for other cancers.

4. Results Discussion: Review findings with your healthcare provider to understand their implications and develop an appropriate plan based on the results.

‍

Understanding Test Results

Genetic test results typically fall into three categories:

1. Positive Result: A known mutation that increases cancer risk is identified. This finding allows you and your healthcare team to develop a personalized risk management plan.

2. Negative Result: No known mutations are found. However, this doesn't eliminate all genetic risk, as some mutations may not yet be identifiable with current testing methods. Breast cancer may still run in your family, even if a mutation is not identified.

3. Variant of Uncertain Significance (VUS): A genetic change is found, but its impact on cancer risk is unclear. These results are fairly common and should be periodically reviewed as scientific knowledge advances.

‍

Benefits of Genetic Testing

Knowledge gained from genetic testing can:

• Help you make informed decisions about preventive care and risk reduction
• Guide recommendations for screening frequency and starting age
• Assist family members in understanding their own risk
• Inform treatment choices if you've been diagnosed with breast cancer
• Provide peace of mind and clarity about your genetic risk factors
• Enable proactive health management strategies

‍

Important Considerations

When considering genetic testing, keep in mind:

• Testing should be done through certified medical laboratories to ensure accuracy and comprehensive results
• Results can have implications for family members, who may also benefit from testing
• Genetic counseling is essential in order  to understand results and implications
• Insurance often covers testing for those who meet specific criteria
• Self-pay options for testing are available, and may not be as costly as you might expect
• The Genetic Information Nondiscrimination Act (GINA) protects against discrimination based on genetic information
• Testing technology continues to advance

‍

Taking Action After Testing

If you receive a positive result, your healthcare team can help you develop a personalized plan that may include:

• Enhanced screening schedules with earlier mammograms and the addition of breast MRIs annually
• Risk-reducing medication options to lower cancer risk
• Preventive surgery considerations based on specific mutations and risk levels
• Family testing recommendations to help relatives understand their risk
• Lifestyle modifications that may help reduce cancer risk
• Regular updates as new research and treatment options become available

‍

Looking Ahead

Genetic testing technology continues to advance, offering increasingly detailed insights into cancer risk. Staying on top of the most recent developments  can help you stay informed about  recommendations based on your genetic profile.

Remember that genetic testing is just one tool in comprehensive breast health management. Your personal choice to pursue testing should be made in partnership with your healthcare provider, considering your individual circumstances and preferences.

‍