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.
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.
More About Dr. LeyGene 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.
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.
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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.
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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