Genetic Testing and Previvorship: Preventative Measures to Reduce Cancer Risk
- Surviving Breast Cancer
- 52 minutes ago
- 5 min read
By Kiara Ford
For most people, their breast cancer experience begins with a diagnosis from a screening or onset of symptoms. It can come as an icy shock that feels impossible to anticipate. But others may spend years anticipating a diagnosis, aware that they are at an increased risk long before they even have symptoms. For these individuals, genetic testing has shown mutations that are associated with increased cancer risk, such as mutations of the BRCA1 and BRCA2 genes.
These people are often called “previvors,” a term coined by Sue Friedman, the founder of Facing Our Risk of Cancer Empowered (FORCE), a group which aims to support individuals and families facing hereditary cancer. In medical terms, it is more common for practitioners to refer to a specific risk factor a patient carries but has yet to present symptoms of, such as “unaffected BRCA mutation carrier.” But for many previvors, the idea that they have been “unaffected” by their genetic risk rings false.
For those who know they have an elevated lifetime risk of developing breast cancer, this awareness can be life-altering. Not only can it change their personal perception of their health, but many previvors choose to take steps to mitigate their risk of developing cancer. This may include genetic testing for additional family members, increased screening, and preventative surgery.
Continue reading to learn more about genetic testing for cancer risk, and what measures someone can take to reduce their chances of developing cancer associated with a genetic mutation.
Who Should Have Genetic Testing?
Genetic testing aims to identify if an individual is a carrier for certain genetic mutations which can increase the lifetime risk of developing breast cancer, as well as other cancers. Prior to testing, many individuals will first meet with a genetic counselor to decide if testing is beneficial for them or their family.
According to the Centers for Disease Control and Prevention, some of the factors for which genetic testing is recommended include:
family history of breast or ovarian cancer
Ashkenazi or Eastern European Jewish ancestry
personal history of breast, ovarian, fallopian tube, or primary peritoneal cancer
known mutation in the breast cancer (BRCA) genes in someone in your family
This being said, each person’s history and risk will vary based on a multitude of factors. A genetic counselor can help assess and personalize testing recommendations.
If the test results are positive, indicating that there is a mutation in the BRCA genes, further steps can then be taken to increase the likelihood of early detection or reducing the risk of breast cancer.
Reducing Risk with Chemoprevention
There are a few medications which can be taken to possibly reduce risk of cancer. Known as chemoprevention, these drugs are the subject of ongoing research, but do show some promising results. Medications such as tamoxifen, raloxifene, and aromatase inhibitors work by blocking or inhibiting the body’s ability to produce estrogen, a hormone which can potentially help grow many different kinds of breast cancers. Each of these medications functions differently, and like any medical intervention, carry with them risks of side effects. However, many previvors, after discussing with their healthcare providers, have decided that chemoprevention is a worthwhile treatment for them.
Early Detection is Key
One of the most key determinants in treating breast cancer is early detection. When caught early, while the cancer is still localized, the five-year survival rate for breast cancer is 99%. This is why for many previvors who are aware of their genetic risk, increased cancer screening is crucial. This may include mammograms, breast MRIs, breast CTs, ultrasounds, molecular breast imaging, thermography, biopsy, or manual breast exams, in which a patient or provider manually feels for differences or abnormalities in the breast (also called a breast self-exam or clinical breast exam).
Healthcare providers will often recommend more than one of these tests to confirm a breast cancer diagnosis. The provider’s choice of test(s) will depend on factors such as age, family history, breast density, and available technology. Ultimately, a biopsy will typically be used to fully confirm the pathology of anything suspected to be malignant (cancerous). While none of these screenings will prevent the development of breast cancer, they can be instrumental in catching and treating it early.
Reducing Risk with Prophylactic Mastectomy
For previvors looking for options to reduce the risk of breast cancer before it develops, prophylactic (preventative) surgery may be an option worth considering. The most common surgery used to address high susceptibility to breast cancer is mastectomy, a procedure in which all breast tissue is removed from the breast.
There are different types of mastectomy, some of which may opt not to remove the nipple and areola (called “nipple-sparing”). This option is associated with slightly lower risk reduction, but allows for a more natural look post-recovery. On the other hand, a skin-sparing mastectomy removes the nipple and areola in addition to breast tissue.
Bilateral mastectomy, or removal of both breasts, has been shown to be very effective in reducing one’s risk of breast cancer. For carriers of a BRCA gene mutation, bilateral mastectomy has been shown to reduce risk by over 95%. For people with a strong family history of breast cancer, it can reduce risk by up to 90%. Mastectomies are not a guarantee that cancer will never develop, but for many previvors, the risk reduction can be greatly beneficial to them.
Previvorship is Personal
Not everyone with increased risk of breast cancer identifies as a previvor, and everyone will choose a different treatment path, if any, to address their genetic predisposition. The relationship between a person and their increased risk of cancer is deeply individual, and they should be allowed space to navigate in their own time, in a way that feels right for them. However, for those who do decide they want to take steps to address their heightened risk, there are many screening and treatment options, as well as a community of other previvors there to support them.
Note: This article offers general information and does not replace professional medical advice. Make sure to discuss your options with your healthcare provider.
Read more:
On the Podcast: Breast Cancer Conversations
Michelle Sandlin, Living Her Best Life with BRCA 1
About the Author:
Kiara Ford is a graduate of Emerson College, where she majored in communication studies and minored in health and society. She is a certified community health worker and has worked extensively in disability advocacy. She is passionate about health equity, and hopes to raise awareness and increase understanding of patients’ rights through her work.
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