High Risk BRCA Genetic Testing and Surgical Options

Inheriting a harmful mutation in the BRCA1 or BRCA2 gene significantly escalates your lifetime risk of developing breast or ovarian cancer. For those with a strong family history of cancer, testing for these mutations can provide vital information to guide cancer prevention and early detection. This resource covers the details of high-risk BRCA gene testing – who should consider it, how it works, interpreting results clearly, and an overview of risk-reducing surgery options for those testing positive to empower patients with knowledge during the decision-making process.

What is a BRCA Gene Test?

A BRCA gene test is a blood test that looks for mutations in the BRCA1 and BRCA2 genes. People with mutations in one of these genes have an over 60% lifetime risk of developing breast cancer, compared to the average of 12% lifetime risk. The genes produce tumor-suppressor proteins when functioning properly, but mutations impair these proteins’ ability to bind DNA and regulate cell division. As a result, cells are more prone to dividing rapidly and uncontrollably, forming cancerous tumors. The BRCA gene test helps determine if a patient has one of these cancer-predisposing mutations. If the test is positive for a mutation, patients work closely with their doctor to monitor for cancer through more frequent screenings like mammograms and MRIs. Some people also choose preventive treatment like medication or surgery to remove susceptible tissue and drastically lower their risk of developing cancer.

What To Expect

Getting a BRCA gene test is a simple blood draw, usually done at a hospital or clinic. First, a healthcare provider will discuss your personal and family history of cancer to determine if BRCA testing is appropriate for you. They will explain what the test can and cannot tell you, potential results, and options if you test positive. Many providers also offer genetic counseling before and after testing to ensure you fully understand the process. 

The test itself takes 1-2 weeks for results. A small sample of blood is drawn and sent to a specialized lab, where they isolate DNA and check for mutations in the BRCA1 and BRCA2 genes. If no mutations are found, you have an average risk for breast and ovarian cancer. If a mutation is detected, you have a high risk for these cancers, and your provider will discuss increased cancer screening and prevention options. They may recommend more frequent mammograms, breast MRIs, or consultations to discuss reducing risk through medication or preventive surgery. While testing positive can be concerning, the test gives you valuable information to catch any future cancers early or take steps to reduce risk – leading to better outcomes. Your provider will be there at each step to ensure you understand your results and customize the best plan for your situation.

What is a BRCA Gene Test?

A BRCA gene test is a blood test that looks for mutations in the BRCA1 and BRCA2 genes. People with mutations in one of these genes have an over 60% lifetime risk of developing breast cancer, compared to the average of 12% lifetime risk. The genes produce tumor-suppressor proteins when functioning properly, but mutations impair these proteins’ ability to bind DNA and regulate cell division. As a result, cells are more prone to dividing rapidly and uncontrollably, forming cancerous tumors. The BRCA gene test helps determine if a patient has one of these cancer-predisposing mutations. If the test is positive for a mutation, patients work closely with their doctor to monitor for cancer through more frequent screenings like mammograms and MRIs. Some people also choose preventive treatment like medication or surgery to remove susceptible tissue and drastically lower their risk of developing cancer.

Who Should Get a BRCA Gene Test?

Patients with a significant family history should be referred to a genetic counselor by their physician to evaluate for potential genetic mutations. A significant family history is classified as:

• A first-degree relative (grandmother, mother, sister, aunt) diagnosed with breast cancer before age 50
• Both breast and ovarian cancer in your family and particularly in a single relative
• Family history of pancreatic, colon, or thyroid cancer
• Relatives with cancer in both breasts
• Ashkenazi Jewish (Eastern European) background
• African American patients diagnosed at younger than 35 years of age
• Male relative with breast cancer

How to Prepare for a BRCA Gene Test

Preparing for a BRCA gene test is relatively straightforward. Schedule an appointment with your primary care doctor to discuss your personal and family health history and determine if genetic testing is right for you. Before your appointment, consider if you feel mentally prepared for different possible test results, and formulate questions, so you can discuss your concerns and understand all of your options. When you get to your appointment, be ready to provide a detailed account of your family history. If your doctor recommends moving forward with the test, you’ll simply have a small blood sample collected through a quick needle stick. The lab will analyze your blood for BRCA mutations, and your doctor will walk you through the meaning of the results at a follow-up visit 1-2 weeks later. If there’s a positive result, additional consultations can provide more information on reducing your inherited risk. Being ready with the key details for your appointment facilitates the process.

Benefits

Knowledge of your BRCA status provides personalized power – allowing you to tap into lifesaving screening and prevention approaches, inform your family, and gain peace of mind. After receiving your results, your doctor will craft the ideal action plan for your situation.

There are several important benefits of getting tested for BRCA gene mutations:

• Knowledge is power. Simply knowing you have a mutation allows you to make empowered decisions about your health, like pursuing enhanced cancer screening or risk-reducing medications or surgery. 
• You can inform family members. A positive BRCA test means your close blood relatives have a 50% chance of sharing the same mutation. Sharing your results lets them pursue testing and take preventive action if needed. 
• Screening and prevention work. For those testing positive, following expert screening guidelines (including breast MRIs, etc.) allows exceptionally early diagnosis at non-life-threatening stages, up to 98% of the time. Preventive mastectomy slashes breast cancer risk by over 90%.
• Options for risk reduction emerge. Those with mutations qualify for medications like tamoxifen which reduce the chance of developing breast cancer by half.
• Relief comes with negative results. A negative test provides definitive reassurance that harmful BRCA mutations were not inherited. This allows you to pursue average-risk screening levels.

Understanding Your Results

Getting your results from BRCA gene testing can provide valuable information to guide follow-up treatment. There are three possible test outcomes, all with different implications.

Positive Test Results

A positive test means a mutation was detected in your BRCA1 or BRCA2 genes. This confirms you have inherited a substantially increased risk for breast and ovarian cancers over your lifetime, compared with the general population risk. A positive result does not mean you have or definitely will develop cancer; it means your risk level is elevated, so additional vigilance is warranted. Your provider will customize increased cancer screening to allow very early detection and discuss options like preventive medications and surgeries that lower risk. Extra screening and prevention are extremely effective when aware of positive status.

Negative Test Results

A negative result means no cancer-causing BRCA mutations were identified. Your risk levels are average, on par with the general population. In this case, no additional interventions are needed beyond maintaining recommended average-risk health screenings like routine mammograms. 

Uncertain Test Results

An uncertain result occurs if a variant is found in your BRCA genes, but it is unclear whether this variant is directly associated with increased cancer risk. Additional testing on your variant may be necessary to categorize it as harmful or benign. In these cases, providers take a moderate approach, recommending slightly intensified surveillance. Follow-up testing in the coming years as variants are further classified can provide more clarity. 

Surgical Options

There are a few surgical options for patients who test positive for a BRCA mutation and want to undergo risk-reducing surgery to minimize their chances of developing breast or ovarian cancer.

Preventive Mastectomy (removal of both breasts) – This is the most definitive risk-reduction surgery, slashing breast cancer odds by over 90% in high-risk patients. Both non-reconstructed and reconstructed mastectomy are options to consider in preventing cancer.

Prophylactic Salpingo-Oophorecomty (removal of ovaries/fallopian tubes) – As BRCA mutations also raise ovarian cancer risk, this bilateral surgery not only directly removes at-risk tissue, but lowers circulating estrogen to protect breast tissue after menopause onset.

Contralateral Mastectomy (removal of the unaffected second breast after 1st cancer diagnosis) – If cancer arises in one breast, patients can opt for surgery on the other side aimed at preventing future new cancer as well, for maximum risk reduction.

These are very personal decisions made after thoughtful discussions weighing cancer risks and risk reduction potential with quality of life factors. Thorough counseling covering the pros and cons of risk-reducing surgery options can help patients make the best choice for their unique situation. Determining one’s mutation status lays the groundwork for these informed discussions about surgical prevention. In terms of reconstruction options, implant-based and autologous breast reconstruction are typically offered to patients. We usually recommend direct-to-implant reconstruction, nipple-sparing mastectomy, autologous fat graft placement, DIEP flap transfer, and pre-pectoral implant placement for people who are at higher risk for developing cancer.  The appropriateness of any one of these operations largely depends on the patient’s aesthetic and reconstructive goals as it does their general anatomy and breast architecture.

*The information available on this page was created to educate our patients. It is not an alternative for a formal consultation with a board-certified plastic and reconstructive surgeon. Individual results vary per patient. For more information, we strongly recommend scheduling a consultation with our doctors.