In Memory of Our Loved Ones: The importance of genetic testing for breast cancer.
Breast cancer is prevalent in the Black community and in my family. I recently lost a dear family member to stage four breast cancer and all the complications that go along with it. I will not share all of her personal details here, but what I will say is that we both shared a BRCA genetic mutation from our grandmother and a distant Ashkenazi Jewish relative. I will share that she participated in a clinical trial to help others.
Personally, I have survived two occurrences of stage three breast cancer. Medical professionals might call it a recurrence, but the language I have chosen is based on the fact that each breast has a different type of breast cancer. Yes, there are different types of breast cancer. (https://www.breastcancer.org/types). The first occurrence was in my 30’s (right breast), and the second occurrence was in my 40’s (left breast). Both times, I felt a lump in my breast and headed straight to the doctor. I eventually had a bilateral mastectomy with tram flap reconstruction. I know that is a lot of jargon. Basically, I had both of my breasts removed and rebuilt using my own tissue (stomach fat). No, that is not the same as a “Boob Job.” I am almost out of my 50s, but the fear is very real that cancer will reappear.
During my second occurrence, I was able to participate in genetic testing and counseling at Yale University Hospital as it was covered by my insurance, and I was also part of a genetic study. But this message is to encourage you to not only do a breast self-exam and see a medical professional for your yearly mammogram but also to inform you about the BRCA genetic mutations that exist.
In honor of my cousin Trina, my aunt, Mrs. Johnson, has allowed me to share her words of remembrance in this blog post. Her words not only honor the life of a shining star but also a message from her daughter to you. Words to encourage you to put your health at the top of the “must do today list,” learn your family medical history, and get your genetic test.
Here is what you should know:
Increased Risk: Some genetic mutations, such as those in the BRCA1 and BRCA2 genes, are associated with a significantly higher risk of breast cancer. These mutations are more prevalent in certain populations, including Ashkenazi Jewish and African-American communities. Black women with these mutations have a 15-20% lifetime risk of developing breast cancer, which is higher than the general population.
Early Detection: Genetic testing can help identify individuals at a higher risk of developing breast cancer at an earlier age. Early detection is critical because it often leads to more effective treatment options and better outcomes.
Family Health: A positive genetic test result can also have implications for other family members. Relatives may be at increased risk, and they can make informed decisions about their own health by considering genetic testing and appropriate risk management strategies.
Preventative Measures: Genetic testing results can guide healthcare providers in recommending preventive measures like increased breast cancer screening, risk-reducing medications, or prophylactic surgery (e.g., mastectomy) to reduce the risk of cancer in high-risk individuals.
Clinical Trials: Some clinical trials for breast cancer prevention and treatment specifically target individuals with certain genetic mutations. Genetic testing can help identify eligible candidates for these trials, providing access to cutting-edge therapies.
Precision Medicine: Genetic information can guide treatment decisions if breast cancer is diagnosed. Some treatments, such as PARP inhibitors (Poly ADP-ribose polymerase is an enzyme that helps repair DNA damage), are more effective in individuals with specific genetic mutations, so knowing one's genetic profile can help tailor treatment plans.
Family Planning: Knowing one's genetic risk for breast cancer can inform family planning decisions. It allows individuals to consider early screening, prophylactic surgeries, or more frequent breast cancer surveillance, which can reduce the risk of cancer development.
It's important to note that genetic testing is a personal decision, and individuals should discuss it with their healthcare providers, genetic counselors, or specialists who can provide guidance based on their family history, individual risk factors, and personal preferences. Access to genetic testing and genetic counseling should be equitable for all populations, including Black women, to ensure that they can make informed choices about their breast cancer risk and management.
Breast Cancer Genetic Testing Information Resources:
Black Women Need Genetic Testing for Breast Cancer Too - A study shows genetic counseling and tests are key for Black and White women to predict the risk of developing breast cancer.
Disparities in Genetic Testing and Care among Black Women with Hereditary Breast Cancer
Do Black Women Diagnosed With Breast Cancer Have Higher Rates of Genetic Mutations Than White Women? Black women and white women diagnosed with breast cancer have about the same rates of genetic mutations linked to a higher risk of breast cancer.
Black Women’s Health Imperative
Genetic Counseling and Testing for Breast Cancer Risk
Genetic Testing for Hereditary Breast and Ovarian Cancer
BRCA Gene Test Overview
Types of Breast Cancer