BRCA Genetic Testing

A BRCA mutation is a mutation in either of the tumor-suppressing BRCA1 or BRCA2 genes. When properly functioning, these genes produce a tumor-suppressing protein. When these genes are mutated, this protein is not being produced or is no longer working as intended. Mutations in the BRCA1 and BRCA2 genes have been shown to increase the risk of female breast and ovarian cancers.

Bedford Breast Center in Beverly Hills offers BRCA genetic testing to patients from throughout Greater Los Angeles and beyond who may be at heightened risk for breast cancer.

“Dr. Richardson and everyone at Bedford Breast Center make an often overwhelming and uncomfortable experience as calm and welcoming as possible. As someone with a family history of breast cancer and gene mutations, I’ve learned so much about my breast health since seeing Dr. Richardson – and she has made me feel more empowered and confident in proactively taking care of my health. So grateful for the BBC team!”

Marika L. – Google

What Are the BRCA1 and BRCA2 Genes?

BRCA1 was discovered in 1994 by geneticist Mary-Clare King, working under the National Institute of Health. Her work was documented in the movie Decoding Annie Parker. Following the breakthrough in BCRA genetic testing, NIH scientists identified another gene mutation, BRCA2. BRCA genetic testing has revolutionized breast cancer screening and breast cancer surgery.

These 2 genes help protect the body from developing cancer by producing tumor-suppressing proteins that repair damaged DNA and stabilize the cell’s genetic material. Specific inherited mutations in BRCA1 and BRCA2 increase the risk of female breast and ovarian cancers, and they have been associated with increased risks of several additional types of cancer. BRCA1 and BRCA2 mutations account for about 20 to 25% of hereditary breast cancers, about 5 to 10% of all breast cancers, and 15% of ovarian cancers.

Breast cancers associated with BRCA1 and BRCA2 mutations tend to develop at a younger age than their non-hereditary counterparts. A harmful BRCA1 or BRCA2 mutation can be inherited from a person’s mother or father. Each child of a parent who carries the mutation in one of these genes has a 50% chance of inheriting the mutation.

For more information, visit mayoclinic.org.

Do I Need BRCA Genetic Testing?

Harmful mutations of BRCA genes are relatively rare in the general population, so generalized testing is not indicated. A healthcare provider can help determine whether genetic testing is appropriate by exploring an individual’s personal and family history of cancer and other factors such as ethnicity, as BRCA1 and BRCA2 mutations are more common in certain populations.

Factors indicating that BRCA gene testing should be performed include:

• A family history of cancer
• Multiple cases of breast cancer in the family
• Having both breast and ovarian cancer
• Having cancer in both breasts
• Cancer diagnosed before the age of 50
• Male breast cancer in a family
• Ashkenazi Jewish ethnicity

BRCA genetic testing can be easily performed with a painless saliva test or blood sample. It usually takes about a month to receive the results. The BRCA1 and BRCA2 gene mutation testing results can be positive for carrying the mutated gene, negative (no evidence of the gene mutation), or inconclusive.

What Does a Positive BRCA1 or BRCA2 Genetic Test Result Mean?

A positive gene test indicates that a person has inherited a known harmful mutation in the BRCA1 or BRCA2 gene and, therefore, has an increased risk of developing certain cancers. However, a positive test result cannot determine if or when that person will develop cancer. For example, some women who inherit a harmful BRCA1 or BRCA2 mutation will never develop breast or ovarian cancer.

A positive genetic test result may also have significant health and social implications for family members, including future generations. Genetic tests can reveal information not only about the person being tested but also about that person’s relatives:

• Whether they develop cancer themselves, men and women who inherit a harmful BRCA1 Or BRCA2 mutation may pass the mutation on to their children. Each child has a 50 percent chance of inheriting a parent’s mutation.
• If a person learns that they have inherited a harmful BRCA1 or BRCA2 mutation, each of their full siblings has a 50 percent chance of having inherited the mutation as well.

BRCA gene screening is the first step in determining the appropriate screening protocols. Women who test positive will benefit from enhanced diagnostic screening, such as mammography, ultrasound, and MRI. These advanced screening methods can be started as early as age 26 and carried out more frequently, as determined by you and your physician.

In some instances, risk-reducing surgery, such as a prophylactic mastectomy to remove one or both breasts or surgery to remove the ovaries and fallopian tubes, may be considered. Additionally, certain drugs, such as Tamoxifen, can decrease the risk of developing cancer by suppressing estrogen or other hormones.

What Does a Negative BRCA1 Or BRCA2 Test Result Mean?

A negative test result can be more difficult to understand than a positive result. This is because the implications partly depend on an individual’s family history of cancer and whether a BRCA1 or BRCA2 mutation has been identified in a blood relative.

If the tested person’s close (blood) relative is known to carry a harmful BRCA1 or BRCA2 mutation, a negative test result is clear: It means that person does not carry the harmful mutation and thus cannot pass it on to their children. Such a test result is called a true negative. A person with such a test result is currently thought to have the same cancer risk as someone in the general population.

If the tested person has a family history that suggests the possibility of having a harmful BRCA1 or BRCA2 mutation but complete gene testing identifies no such transformation in the family, a negative result is less clear. The likelihood that genetic testing will miss a known harmful BRCA1 or BRCA2 mutation is very low, but it could happen. Scientists have not yet discovered all potentially harmful BRCA1 and BRCA2 mutations. Therefore, it is possible that a person in this scenario with a “negative” test result actually has an unknown harmful BRCA1 or BRCA2 mutation that has not yet been identified.

What Does an Inconclusive BRCA1 Or BRCA2 Test Result Mean?

Sometimes, a genetic test finds a change in the BRCA1 or BRCA2 gene that has not been previously associated with cancer. This test result may be described as “ambiguous” because whether this specific gene change affects a person’s risk of developing cancer is unknown.

“I went into Bedford breast center a while back and got genetic testing done. The whole process was so quick and easy. I recently went back and had an appointment with Dora the PA and she took the time to answer all my questions in depth. Overall love this office.” 

Ashley K. – Google

What Are the Benefits of BRCA Genetic Testing?

Whether a person receives a positive or a negative result, there are benefits to BRCA testing. The potential benefits of a true negative result include a sense of relief regarding the future risk of cancer, learning that one’s children are not at risk of inheriting the family’s cancer susceptibility, and the possibility that special checkups, tests, or preventive surgeries may not be needed.

A positive test result may resolve uncertainty regarding future cancer risk and allow people to make informed decisions about their future, including taking steps to reduce their cancer risk. In addition, people who test positive may choose to participate in medical research that could help reduce deaths from hereditary breast and ovarian cancer.

What Are the Possible Disadvantages of BRCA Genetic Testing?

Screening for BRCA gene mutations carries no medical risk but can potentially affect a person’s emotions, social relationships, finances, and medical choices.

People who know they carry a mutation of the BRCA gene may feel anxious, depressed, or angry and may have trouble making choices about whether to have preventative surgery. Additionally, BRCA genetic testing can sometimes create tension within families. Because of this, it is recommended that those considering gene testing receive genetic counseling to help with the questions and decisions that will result either way.

Those who receive a negative test result may experience “survivor guilt” caused by the knowledge that they likely do not have an increased risk of developing a disease that affects one or more of their loved ones. And because genetic testing can reveal information about more than one family member, the emotions caused by test results can create tension within families. Test results can also affect personal life choices, such as decisions about career, marriage, and childbearing.

Finally, there is a small chance that test results may not be accurate, leading people to make decisions based on incorrect information. Although inaccurate results are unlikely, people with these concerns should address them with their doctor or genetic counselor.