What is a Previvor? What is BRCA1 and BRCA2?
A previvor describes a person who has a predisposition to cancer, meaning they have a higher risk for developing a specific type(s) of cancer but have not been diagnosed. This label can be applied to a person with an extensive family history of cancer and is usually diagnosed with genetic testing.
About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene.
Specifically for Hereditary Breast and Ovarian Cancer, the most common genes associated are BRCA1 and BRCA2. Everyone has two copies of these genes in all of their cells, and when they’re unmutated, they serve to protect the cell against turning into a cancer cell. These genes are oncogenes meaning they’re genes when mutated caused the growth of cells at an abnormal rate and eventually cancer. Some people are born with a specific mutation or different mutations in these genes, and these individuals are more susceptible to cancer.
About 1 in every 500 women in the United States has a mutation in either her BRCA1 or BRCA2 gene. If either your mother or father has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of having the same gene mutation following in an autosomal dominant matter of transmission in family members.
Screens/Surgeries
BRCA mutations have a high lifetime risk of hereditary breast and ovarian cancers. Still, the knowledge of knowing doesn’t necessarily mean that the person with a mutation in these genes will develop breast or ovarian cancer. To be certain, patients with a mutation in these genes should receive higher rates of screens than the average population.
Surgical preventions can also be taken as famously known as the ‘Angelina Effect’ made this type of prevention famous after her 2013 New York Times Article. Angelina Jolie was found to have a BRCA1 mutation with an 87 percent risk of breast cancer and a 50 percent risk of ovarian cancer; she decided to have a preventive double mastectomy. Angelina Jolie’s article led to a statistically significant increase in the uptake of genetic testing and risk-reducing bilateral mastectomy among women without a previous breast or ovarian cancer diagnosis in the US population and women who did not undergo testing for BRCA (Liede et.al, 2018).
Emotional Burden of Knowing
Knowing the increased risks of cancer can empower some, but there is also a downside to it. In a study, psychological distress and emotional impact were measured in 91 Italian participants, and anxiety was noted to be significantly higher when compared to other emotions like depression, anger, guilt, or concern.
Such measurements also looked into the feelings toward asymptomatic patients and family members. The results indicated significantly higher rates of anxiety as well (Mella et.al, 2017). Even with prophylactic surgery, there is also an emotional risk burden that does follow. Not every genetic test yields a straightforward answer with clear guidance on how to proceed for optimal care.
There is a bit of a gray zone with genetic testing where a patient can get a variant of uncertain significance (VUS), meaning a change was found in the persons’ DNA, but the significance on a patients’ health outcome is unknown. Since the disease risk for patients with a VUS are unknown, providers do not recommend surgeries. But confounded with anxiety, unclear genetic test reports, and remaining effects of the ‘Angelina Effect’ have to lead to increased rates of mastectomies for patients with variant of uncertain significant findings as well (Liede et.al, 2018).
Importance of Meeting with a Genetic Counselor
Knowing that you have an increased risk for developing cancer inloves complex medical decisions and emotions. This highlights the importance of meeting with a genetic counselor to discuss risk assessment. Genetic counselors can list out the pros and cons of genetic testing, talk through the feelings toward genetic testing or the possibility of knowing that you have an increased risk, and discuss potential risk-reducing strategies or screening recommendations based upon professional guidelines. If you have considered doing genetic testing, Find a genetic counselor near you; check out the National Society of Genetic Counselors Website (https://findageneticcounselor.nsgc.org/).
Interested in learning more about a BRCA Previvor’s Journey? Check out our podcast episode with Dr. Simran Malhotra, MD:
References
BRCA1/BRCA2: https://www.genome.gov/genetics-glossary/BRCA1-BRCA2
Angelina Joleine Article: https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html
Liede et. al (2018) Paper:https://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html
Mella et.al (2017) Paper: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5625658/
