Genetic Testing for Breast Cancer: Unveiling Your Risk Factors

Genetic Testing for Breast Cancer: Unveiling Your Risk Factors

Genetic factors play an important role in the development of breast cancer. Certain mutations in genes such as BRCA1 and BRCA2 can significantly increase a woman’s risk of developing breast and ovarian cancers. Women who inherit mutations in these genes have up to an 80% lifetime risk of developing breast cancer compared to around 12% in the general population who do not have the mutation. 

Gene testing analyzes a person’s DNA to check for mutations in BRCA genes as well as other common mutations that present a risk for cancer, such as CHEK2, PTEN, ATM, and CDH1. If a harmful mutation is identified, this indicates the person has a heightened susceptibility to breast and ovarian cancers. Knowing one’s genetic mutation status provides crucial information to guide screening, prevention, and treatment decisions. Gene testing is a powerful tool to identify breast cancer risk factors and enable personalized medical management of this disease through surgery or other preventative treatment options.

Understanding Genetic Panel Testing

Genetic testing for breast cancer analyzes your DNA to identify mutated genes associated with substantially increased lifetime breast and ovarian cancer risks. Specifically, tests check for harmful mutations in genes like BRCA1, BRCA2, and a panel of moderate-risk genes such as CHEK2, PTEN, ATM, and TP53. BRCA1 and BRCA2 are tumor suppressor genes that help repair damaged DNA and ensure stable cell growth. Harmful mutations in these genes prevent them from properly fixing DNA problems, leading to uncontrolled cell growth and cancer formation. People inherit two copies of each BRCA gene, one from each parent. Those with a mutated copy in either gene have a heightened risk for breast, ovarian, and other cancers. BRCA mutations account for 5-10% of all breast cancers.

A genetic panel test can determine if a person has inherited any cancer-associated mutations from their mother or father. A small blood or saliva sample is used to isolate the individual’s DNA, which is then analyzed for mutations. By simultaneously testing a panel of numerous genes, those with and without strong family histories can get a full picture of their genomic risk profile. Those carrying one of these rarer mutations gain early insight to guide tailored prevention and surveillance to provide a meaningful drop in cancer risks.

Candidates for Genetic Testing

Genetic testing for breast cancer is typically reserved for those who have a family or personal history of breast or ovarian cancer. If you exhibit one or more of these high-risk  traits, you might be a candidate for testing:

  • A personal history of a previous breast or ovarian cancer diagnosis.
  • A family history of breast cancer in one or more relatives under the age of 50.
  • A male relative with breast cancer.
  • A relative with a known BRCA1 or BRCA2 mutation.
  • The presence of multiple cases of these cancers on the same side of the family
  • Ashkenazi Jewish heritage with a close relative who has previously had breast, ovarian, or pancreatic cancer.

Navigating Breast Cancer Risk Factors

While no medical risks are associated with genetic testing, it is important to be aware of the psychological and logistic implications of a positive or negative gene test.

A positive test result means a person has inherited a cancer-predisposing mutation and is at higher risk for developing breast, ovarian, and other cancers. This can cause significant anxiety but also empowers a person to pursue preventative measures early on. Mammograms and MRIs should be given frequently, starting at a young age to closely monitor any changes in your condition. Ovary removal can also be pursued as a preventative measure. After receiving a positive test result, family members should be notified to undergo testing. 

A negative or unclear test result can indicate that you are not high-risk for cancer, but it can also invite feelings of uncertainty. Some genetic tests show a gene variation that is not associated with cancer. If a family member you know has a positive gene mutation, survivor’s guilt is a common reaction to a negative or unclear result. Regular screenings are still recommended even after receiving a negative test result, as non-BRCA factors still contribute to breast cancer formation.

After breast cancer genetic panel testing, patients are encouraged to schedule appointments with genetic counselors to fully discuss medical recommendations and emotional impacts, regardless of the test results. It is important to talk with your doctor about managing cancer risk and finding personalized prevention strategies. Our team will work with you to ensure you and your family have all the information needed to make informed decisions moving forward.

Interpreting Test Results and Follow-Up Care

Genetic panel tests can be administered via a simple blood test or saliva test. Your test results may take up to two weeks, and our genetic counselors will call you for an in-person consultation of the results once they are received.

A positive result for gene mutations means you are statistically more likely to develop breast cancer than someone without the mutation, but it does not mean a guarantee of cancer in the future. Follow-up care is usually administered and may include additional screening, oral contraceptives (shown to help reduce cancer risk with positive mutations), chemoprevention, or preventive surgery.

Continued monitoring is usually the best next step if negative or uncertain results are found. Receiving inconclusive results can be frustrating, but new technologies are being developed to understand ambiguous genetic results better. Our team will walk you through the genetic testing process so you are informed and ready to take the next steps.

Request Your Genetic Testing Appointment

Getting genetic testing for breast cancer is critical to detect risk factors early on and assess the need for preventative treatment. If you have a family history of breast or ovarian cancer–especially at a young age–don’t wait. Schedule a consultation with one of our highly-skilled physicians today.