BRCA The Mutation & Managing the Risk
Recently I had the chance to observe and participate in a unique panel discussion regarding a specific genetic mutation that could lead to the development of breast and ovarian cancer.
BRCA1 & BRCA2 ( BReast CAncer a human caretaker gene & its protien product) are part of everyone's genetic makeup. When working properly BRCA1 & BRCA2 repair damage to the DNA in the cell helping to prevent cancer. When there is a mutation in the BRCA gene, men and women have increased cancer risk.
Sponsored by the Basser Center for BRCA at Penn Medicine in collaboration with Judges and Lawyers Breast Cancer Alert and Kelly and Drye Law Firm, the panel of experts tackled the hard questions that come with the revelation one has when a BRCA mutation has been identified.
The panel of experts included:
- Susan Domchek, MD a Basser Professor of Oncology at the University of Pennsylvania and Executive Director of the Brassa Center for BRCA, as well as Director of the MacDonald Cancer Risk Evaluation Center at the Abramsom Cancer Center.
- Dr. Kathie-Ann Joseph, a Associate Professor of Surgery at NYU Langorne Medical Center, Chief of Breast Surgery at Bellvue Hospital and Co-Director of the Bea Welters Breast Health Outreach and Education Navigation Program in New York City.
- Erika Stallings a intellectual property associate at Kelly Drye & Warren LLP., who discovered in 2014 thru genetic testing that she carries the BRCA2 mutation.
- Justice Barbara Jaffe, a justice of the New York State Supreme Court, who sits on the Board of Directors at JALBCA.
So what did I learn and take away from the panel tasked with answering the questions from a pretty educated crowd? Well:
- In the general population 1 in 500 women & 1 in 800 men carry the BRCA mutation. Some with Ashkenazi Jewish Ancestry have a 1 in 40 chance of carrying the mutation.
- If you have the BRCA mutation you have a 50% chance of passing it on.
- Insurance companies may cover most or some of the cost if you or a family member meet certain criteria which may include:
- Breast cancer at age 50 or younger
- Triple Negative Breast Cancer at 60 or younger
- Ovarian or a Fallopian tube cancer at any age
- More than one breast cancer diagnosis
- A known mutation in a cancer risk gene
- Breast, ovarian, pancreatic or high grade prostate cancer diagnosis in multiple individuals on the same side of the family
I also gained an insight on what people can do to manage their risk
- Talk with your families about their medical history. It's very important information that can help a doctor determine if you might be at risk
- Speak with your doctor about genetic counseling (the process by which the patient or a relative at risk for an inherited are advised of the concequences and nature disorder, the probability of developing and transmitting the disorder and the options open to them in management and family planning)
- Entertain the option of having or working with a mental health professional if you do decide to have genetic counseling. The process of going thru and receiving a diagnosis of a genetic mutation can csimetimes be overwhelming. Having a trusted mental health professional in your arsenal could help you alleviate and work thru the anxiety.
- Have a discussion with your doctor and your insurance company to find out if your covered for genetic testing. If so, is it fully covered, am I allowed to use any testing facility and how and by whom other than myself will have access to and use this information?
What are some things that can be done if one is diagnosed with a BRCA mutation?
- Undergo increased screening and surveillance
- Undergo risk reducing surgeries
- Take preventive medications
- A individual cancer risk management plan should be created
Finally as a African American woman who has been diagnosed with cancer, my takeaway from this discussion is that there are some glaring disparities that are apparent. Women of color are more likely to recieve sub standard medical care or late stage diagnosis. Less of us understand the complex navigation of a cancer diagnosis, much less the simple decision to seek care at a "teaching facility" instead of a familiar community hospital, can make all the difference in access to state of the art care & inclusion in clinical trials. African American women are under represented in clinical trials and have a higher death rate from breast cancer than than Caucasian women. As a Triple Negative Breast Cancer survivor, I ponder with a touch of anger and bewilderment that if this disease is more apparent in women of color, then why the underrepresentation in the clinical trials? Why if more back women are dying from this disease have the alarm bells not be ringing hard at every Church, medical clinic and government office in our communities? Lastly with all the money being raised for cancer research, why is so little of that money allocated to finding a targeted therapy for Triple Negative Breast Cancer? I'm struggling to find answers to these questions. It's quite apparent that advocacy has to be done to close the widening gap. For info on breast cancer statsclick on the link below: