Genetic Testing

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Genetic testing is a great tool to stratify your risk for breast cancer and other cancers. Genetic mutations are changes in a gene that can lead to an increased risk of breast and other cancers. They are detected by a blood sample which is then sent for specialized testing. While not everyone needs to be tested, it can be helpful for patients with cancer or those with a strong family history.  At Tucson Breast Health Specialists, we are happy to help guide you on your genetic testing journey.

Gene Changes that Can Increase Your Breast Cancer Risk

The BRCA gene mutations are the most commonly known gene changes associated with breast cancer risk. However, there are many genes that are thought to cause breast cancer.

BRCA1 and BRCA2 Genetic Mutations

These are the most prevalent inherited gene changes associated with breast cancer. Women with a BRCA gene change have an increased risk of breast cancer, as well as ovarian cancer and pancreatic cancer. Men with a BRCA gene change are at a higher risk for breast cancer, prostate cancer, and pancreatic cancer.  There is also an increased risk of melanoma, specifically with BRCA2 mutation.

Board-Certified Surgeon

MICHELE LEY, MD, FACS

Dr. Ley, a breast surgical oncologist in Tucson since 2006, delivers compassionate and personalized care to create tailored treatment plans based on the latest research. Specializing in surgical care for breast cancer and high-risk patients, she employs minimally invasive techniques and practices oncoplastic surgery to optimize outcomes.

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Who Should Consider Genetic Testing?

There are certain individuals should consider genetic counseling and testing for cancer gene mutations, including:

Women diagnosed with breast cancer: While not all women with breast cancer need genetic testing and counseling, they can be helpful tools. This is especially true if you were diagnosed with breast cancer at a younger age, have triple-negative breast cancer, have been diagnosed with a second breast cancer, have a family history of breast, ovarian, pancreatic, or prostate cancer, or are of Ashkenazi Jewish descent.

People with a higher risk of gene mutations: Genetic counseling may also be beneficial if you don’t have cancer but are at a higher risk for inherited gene mutations. These may include those with a family history of the BRCA gene mutation, women diagnosed with ovarian or pancreatic cancer, people with a family history of breast cancer at a younger age, more than one family member with breast cancer, or breast cancer in a male family member, or those with a close family member with a history or ovarian, pancreatic, prostate cancer, melanoma or rare cancers.

“The level of care is excellent.”

I have no words to express my gratitude for Dr. Ley! I was diagnosed Feb. 2020 and Dr. Ley besides being the best in her field and doing an amazing job on my double mastectomy she was even able to save my nipples. She is also a remarkable human being, patient, kind very clear in explaining everything and making you feel heard and safe in her hands. I 100% recommend her and her very helpful, kind and amazing team! If you have recently been diagnosed this is the team you want to have your back!

Dr. Ley is extremely good at explaining your breast cancer, treatment options, and everything she is going to do. She is a masterful surgeon and uses plastic techniques to close incisions, leaving minimal scarring. In addition, she is warm, pleasant, and a lovely person. I am so happy that I found her based on a friend’s recommendation. I can’t say enough about her and the practice’s excellent care.

When diagnosed with Breast Cancer my daughter, which is a surgical nurse, started searching for a breast surgeon for me. Within a short period of time, she called stating “Mom, Dr Ley is the surgeon for you”! I have not been disappointed & have had nothing but positive experiences with Dr. Ley & her staff. They truly care.

What to Expect with Genetic Testing

Genetic testing can either be done to pinpoint one or a few specific mutations, or more extensive testing can be performed to look for many different gene changes. Your counseling team will discuss which type of test is right for you.

Genetic testing can be achieved through samples of blood, saliva, or a swab on the inside of the cheek. These samples are sent to a lab to be tested.

Before undergoing genetic testing, it is important to understand what your results may or may not tell you about your risk. Genetic testing is not perfect and may not provide clear answers for everyone. This is why having genetic counseling is important before and after being tested. Your genetic results may come back as positive for a mutation you were tested for, negative for a mutation you were tested for, inconclusive, or positive for a variant of unknown significance – VUS- (this means the test found a gene change, but it is unknown if this affects your risk).

Your genetic counselor can explain what the results of your genetic testing mean, and what they might mean for you and other family members moving forward.

Genetic Testing FAQs

Are genetic tests accurate?

Genetic tests for cancer-related genes, such as BRCA1 and BRCA2, or for multiple genes are generally highly accurate. Labs use advanced technology to sequence DNA, targeting known mutations associated with cancer risk. While these tests can accurately identify mutations, it’s important to note that they do not predict if or when cancer will develop, only whether there’s an increased genetic risk. Results are best interpreted by a genetic counselor or breast health specialist who can explain the probability of risk and implications for health.

How is genetic testing done?

Genetic testing typically requires a simple blood or saliva sample. The sample is then sent to a lab, where DNA is extracted and analyzed for specific genetic mutations linked to cancer. For breast cancer, tests focus on mutations in genes like BRCA1, BRCA2, and others that may increase cancer risk. Most genetic testing now includes numerous genes and is called a gene panel. Results are typically available within a few weeks, depending on the complexity of the testing panel.

Why should you do genetic testing for breast cancer?

Genetic testing can provide valuable information for individuals with a family history of breast cancer or other cancers, especially if relatives have had breast, ovarian, prostate, or pancreatic cancer. Testing can help determine personal cancer risk and inform screening recommendations, guide preventive strategies, and inform family members of their potential risk.

Who does genetic testing?

Genetic testing is usually ordered by healthcare providers such as surgical oncologists, primary care doctors, or genetic counselors. Genetic counselors play a key role in this process by helping patients understand the potential benefits and limitations of testing, interpreting results, and discussing the next steps based on those results. All genetic testing should be accompanied by counseling after the testing.

Can genetic testing detect cancer?

Genetic testing does not detect the presence of cancer itself; rather, it identifies mutations that may increase a person’s risk of developing certain cancers. For example, a positive BRCA1 or BRCA2 mutation does not mean a person has breast cancer, but it indicates a higher risk of developing it over their lifetime. Genetic testing is a proactive step that can guide decisions on preventive measures, such as more frequent screenings or lifestyle changes to potentially reduce cancer risk.

Contact Us Today

If you are interested in learning more about your risk of breast cancer or would like to see if you can benefit from genetic testing, please contact Tucson Breast Health Specialists today. We proudly offer breast health care to patients in the Tucson, AZ area and beyond.

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