Breast cancer is one of the most common cancers affecting women worldwide. While many factors contribute to its development (such as age, lifestyle and reproductive history) genetics plays a significant role in determining an individual’s risk. Understanding your genetic risk for breast cancer can empower you to make informed decisions about prevention, screening, and treatment.
“Genetics doesn’t determine your destiny, but it can help illuminate your risk. When patients understand their inherited predisposition to breast cancer, they’re better equipped to take proactive steps—whether through earlier screening, lifestyle adjustments, or targeted prevention strategies,” says Dr. Lindsey Beakley, breast surgical oncologist at Southern Cancer Center.
What Is the Genetic Risk for Breast Cancer?
Genetic risk refers to the likelihood of developing a disease based on inherited changes, or mutations, in your DNA. In the case of breast cancer, certain gene mutations can significantly increase your risk. These mutations are passed down from parents to children and can be identified through genetic testing.
It’s important to note that most breast cancers are not inherited. However, about 5% to 10% of breast cancers are linked to inherited gene mutations, most commonly in the BRCA1 and BRCA2 genes. BRCA1 and BRCA2 are tumor suppressor genes that help repair DNA damage. When these genes are functioning properly, they prevent cells from growing uncontrollably. However, mutations in these genes can impair their function, increasing the risk of breast, ovarian, and other cancers.
- Women with a BRCA1 mutation have a 55% to 72% lifetime risk of developing breast cancer.
- Women with a BRCA2 mutation have a 45% to 69% lifetime risk.
These risks are significantly higher than the average woman’s lifetime risk of about 13%.
Other Genes That Influence Risk
While BRCA1 and BRCA2 are the most well-known, other genes can also increase breast cancer risk. These include:
- PALB2: Works with BRCA2 to repair DNA. Mutations can raise breast cancer risk to 33–58%.
- TP53: Associated with Li-Fraumeni syndrome, which increases the risk of several cancers, including breast cancer.
- CHEK2, ATM, PTEN, CDH1: Mutations in these genes are less common but still contribute to elevated risk.
Who Should Consider Genetic Testing?
Genetic testing is not recommended for everyone. It’s typically advised for individuals with:
- A personal history of breast cancer diagnosed before age 50.
- Triple-negative breast cancer diagnosed before age 60.
- A personal or family history of ovarian, pancreatic, or male breast cancer.
- Multiple relatives on the same side of the family with breast cancer.
- A known BRCA1 or BRCA2 mutation in the family.
- Ashkenazi Jewish ancestry—these individuals have a higher chance of carrying BCRA gene mutations.
If you meet any of these criteria, your healthcare provider may refer you for genetic counseling, which helps you understand the benefits, limitations, and implications of testing.
What to Expect from Genetic Testing
Genetic testing usually involves a simple blood or saliva sample. The results can take a few weeks and will fall into one of three categories:
- Positive: A known harmful mutation was found. This means you have a higher risk of developing breast cancer.
- Negative: No harmful mutations were found. However, this doesn’t eliminate your risk entirely.
- Variant of Uncertain Significance (VUS): A genetic change was found, but its impact on cancer risk is unclear.
A positive result doesn’t mean you will develop breast cancer, just as a negative result doesn’t guarantee you won’t. Your healthcare team will help interpret the results in the context of your personal and family history.
Managing Genetic Risk
If you test positive for a high-risk mutation, there are several strategies to manage your risk:
- Enhanced Screening
- Earlier and more frequent mammograms or breast MRIs.
- Clinical breast exams every 6–12 months starting at a younger age.
- Lifestyle Modifications
- Maintaining a healthy weight, exercising regularly, limiting alcohol, and avoiding tobacco can help reduce overall cancer risk.
- Preventive Surgery
- Prophylactic mastectomy (removal of healthy breasts) can reduce breast cancer risk by up to 95% in high-risk women.
- Prophylactic oophorectomy (removal of ovaries) may also be recommended to reduce ovarian and breast cancer risk.
- Chemoprevention
- Medications like tamoxifen or raloxifene can lower the risk of hormone receptor- positive breast cancer.
Talk to Your Provider About Your Genetic Risk
Understanding your genetic risk for breast cancer is a powerful step toward proactive health management. While not everyone needs genetic testing, those with a strong personal or family
history of cancer may benefit from it. The results can guide decisions about screening, prevention, and even treatment.
If you’re concerned about your risk, talk to your doctor or a genetic counselor. With the right information and support, you can take control of your health and make choices that align with your values and goals.
Southern Cancer Center offers High Risk Breast Cancer services (link) on-site at our clinics, through our specialized Genetic Risk Evaluation and Testing program, overseen by our oncology providers. Our multidisciplinary team guides women identified as high risk by providing education on early detection and risk-reducing practices, as well as offers genetic testing and counseling, disease diagnosis and cancer treatment.
To make an appointment for our High Risk Breast Cancer services or other genetics services, call our office at (251) 625-6896 or request an appointment online HERE.
