BRCA stands for BReast CAncer susceptibility gene. BRCA1
and 2 are human genes that produce tumor suppressing proteins. These proteins help repair damaged DNA. Therefore, they play a role in ensuring the stability of the cell’s genetic material. When either of these genes is mutated, or altered,
such that it’s protein product either is not made or does not function correctly, DNA damage may not be repaired properly. As a result, cells are more likely to develop additional genetic alterations that can lead to cancer.
“I knew it wasn’t IF
but WHEN I would
With a strong family history
of breast cancer, you should
consider genetic testing.
Breast cancers from BRCA1 & 2 tend to occur at earlier ages.
If you’re concerned because of your family history or other red flags for cancer, don't hesitate: Ask your physician for a referral to visit a genetic counselor. A genetic counselor can assess your history and test you for a mutation if needed. It’s a crucial step in knowing whether you are at risk—and what you can do to reduce that risk.
In a family with a history of cancer, it may be helpful to first test a family member who has breast or ovarian cancer. If the person is found to have a mutation, then other family members can be tested to see if they also have the mutation. Several different tests are available that look for a known mutation in one of the genes. DNA from a blood or saliva sample is needed for genetic testing. The sample is sent to a lab for analysis. It usually takes about 10–14 days to get the results.
If you test positive for the BRCA mutation, there are a couple of options to consider. The first option is to have a preventative or prophylactic mastectomy. Having both breasts removed has been found to reduce the risk of breast cancer in high risk women by about 90% according to breastcancer.org. This risk really picks up after age 25. This high risk is why many women decide to have this surgery.
Once your breasts are removed, you can choose to have reconstruction surgery so that an implant rebuilds your breasts. Often times they can save the nipple during the mastectomy, it will still react but you won’t have any sensation. If saving the nipple is not an option, you can chose to go nipple-less or get them tattooed on. If you get reconstruction surgery, you would need to have your implants replaced every 20 years, each new set after the first are not covered by insurance. The second option is to undergo more frequent cancer screenings in a effort to catch cancer early.
A month before my 17th birthday my Dad lost his battle with bile duct cancer- he was only 49 years old. The specialists kept telling us that there was no genetic significance. We’ve always known about the high risk of breast cancer on my Dad’s side, but for the longest time breast cancer seemed to be linked to a person’s maternal history.
Earlier this year after being diagnosed with Breast Cancer my cousin was identified as
a BRCA1 carrier. It was at this time we realized the significance of the BRCA1 gene and that the men in the family were also passing on the mutation. My mom was adamant that my sisters and I get tested, especially since bile duct cancer has also been linked
to the BRCA1 gene. I scheduled a consultation with my Gynecologist for the end of May 2015. As the date of the consultation got closer, the more nervous I became. After reviewing my family history, The doctor recommended that I get tested for the genetic mutation, and the blood sample was taken before I even left the office. I had a pit in my stomach as I drove home. The test takes approximately 10-14 days, a long time to wait and think about the possible outcomes and contemplate what it would mean for me as
a young, healthy, active 29-year-old woman.
Approximately 10 days later, while on vacation, I received a voice mail, my stomach sank. My physician simply asked me to call him back, but knowing him personally, I think I could tell in his voice. I called him back right away and we had a conversation that would put my life into a tail spin for the next two months; I tested positive for the BRCA1 mutation. As he explained the next steps: breast MRI, blood work, pelvic ultrasound, genetic counseling, consultation with a breast surgeon and a reconstructive surgeon, my brain was overflowing. In my heart I knew right away that getting a mastectomy was the best choice for me-but never the less, hard to accept. I had an amazing team of physicians, and endless love and support from friends and family; it was a truly humbling experience. Seeing what my cousins and Dad went through, I knew it wasn’t IF but WHEN I would develop cancer.
On July 31st 2015 I made the choice to have a bilateral mastectomy with reconstruction. It was in no way an easy decision, but I truly believe it was the best decision for me. I felt the presence of my father a lot during this process. He was by my side, telling me to
do whatever it took to prevent having to go through what he did. Eventually my fear and anxiety turned into empowerment. I used knowledge to make a powerful and brave decision. Now I am proud, and I share my story whenever I can, because if I can help even one person build the courage to talk to their doctor, get an accurate family history and get tested; then it is all worth it.
Since the age of 17, I’ve had a fear of getting breast cancer. Not only did my Grandma have breast cancer, my Mom did as well. My Grandma survived after a double mastectomy. My Mom did not. When the doctors told her she had stage 5 breast cancer it was too late to act. The cancer cells had already spread, so a double mastectomy would have done nothing. I was only five years old when she passed.
At the age of 20, I noticed a small lump in my breast which pushed me to follow up with a doctor. I went in and had an ultrasound, Luckily, this was nothing but my mom being diagnosed at 29 and passing away at 30 made me worry. The Doctors mentioned there was a genetic test that you can have done. I found that I had both BRCA mutations. The Doctors recommended that I get a double mastectomy. They told me it would be best to do this soon because of my mom passing away so young. The Doctor told me I was at a 97% risk of developing breast cancer before the age of 30. That was terrifying for me to hear so I decided to act right away.
Right after my 21st birthday my husband took me to the Hospital for a double mastectomy. They told us that the procedure would take five hours. My husband was scared, I was too but I tried my best to be brave and not cry before going in. I remember waking up and feeling like I was out for five minutes. There was an excruciating pain in my chest. It felt as if a pile of bricks were weighing down on me. As I took a breath it felt like someone piled ten more bricks on the stack.
I was out of work for a month and half and my husband took care of me from the time he got off until he left for work the next morning. Six months after my mastectomy surgery, I had to go back in for the reconstruction surgery, This involved removing
the tissue expanders, setting my implants and sewing me back up. This seemed minor compared to the first surgery. I felt disgusting. My skin was black, purple and yellow.
I had bruises, stitches and scars. My husband still made me feel beautiful. We took pictures of the process in case I had a little girl one day to show her what we dealt
with and what she may eventually have to go through.
On January 20th 2015 we did have a little girl. I’m glad I was proactive with my health for her sake as well as mine. I would hate for her to witness what I went through with my mom. Take it from me; it’s very important to have the knowledge of your family’s health history. It could save your life.
My name is Fiona. I am 36 years of age. I am married with three beautiful children.
At the age of 32, I made a life changing decision to have a bilateral prophylactic mastectomy due to my mother losing the battle to breast cancer. At the age of 47, my mother was diagnosed with stage 4 breast cancer. They gave her five years and she lived exactly that. The cancer metastasized to several of her organs including her brain and bones. My mother had brain surgery in order to remove one of the tumors. After surgery, there were definitely differences with my mom such as her losing function in her legs; hindering her ability to walk. During her final months of life, my mother needed 24 hour around the clock care.
She was admitted to the Hospital in January 2008. I took family medical leave and lived in the hospital with her from January to February 2008. The doctors gave us news that we did not want to hear; there was nothing more they could do. They suggested that we admit her into a nursing home with the estimated time frame of two weeks to live. I took care of my mother in her apartment from March to June 28, 2008. Although the estimated time was two weeks, God gave us a lot more time! Losing my mother was the most devastating experience of my life. She was best friend, my whole world, and my love. My mom was and will always be my hero. During the course of a two year period, I expressed my concerns to my husband about options that could be available to someone like me. After having my last baby, I decided to consult my mom’s oncologist. He understood my fears, worries, concerns, and frustration. He referred me to a surgeon who tested me for the genetic trait. Although I tested negative for the gene, I decided to be proactive. I had the support to undergo this life-saving, life-altering surgery from my Husband, my Brother, my Dad, and two of my best friends.
In 2011, I had a bilateral prophylactic mastectomy with single-stage reconstruction. However, my body did not react positively to this method and we (my husband and I) experienced psychological, emotional, and physical hardships. At that point I had lost faith in my Doctor. However, we were blessed with an in-home nurse by the name of Pam. Coincidentally she had the same name as my Mother. She recommended that I get a second opinion and referred us to another Doctor. This Doctor is an amazing person and truly God-sent. He is awesome and has been taking care of me for four years now.
“My husband has been my biggest supporter, even when I didn’t
have breasts for six months.
Every morning he helped me
stuff socks in my bra.”
"The Doctor told me I was at a 97% risk of developing breast cancer before the age of 30."
Age during procedure: 21
Occupation: Registered Medical Assistant
Family history w/cancer: Grandma and Mother
Age during procedure: 32
Occupation: High School Guidance Counselor
Family history w/cancer: Mother, 2 great aunts,
2 maternal aunts and a cousin
SHARE YOUR STORY
ON SOCIAL MEDIA.
Let's Thrive together,
What are BRCA1 and BRCA2?
BRCA1 and BRCA2 are human genes that belong to a class of genes known as tumor suppressors. Mutations in these genes have been linked to a higher risk of breast cancer and ovarian cancer.
If I test positive for a BRCA1 or BRCA2 mutation, what does that mean
for my risk of breast or ovarian cancer?
A woman's lifetime risk of developing breast or ovarian cancer is greatly increased if she inherits a harmful mutation in BRCA1 or BRCA2. Cancer is also more likely to develop at an earlier age. Women with a BRCA1 or BRCA2 mutation have a 60% risk of developing breast cancer in their lifetime (compared to 12.5% in the general population) and a 15-40% chance of developing ovarian cancer in their lifetime (compared to 1.4% in the general population).
Should I be tested for BRCA mutations?
A genetic counselor can help you understand if you're likely to have an inherited susceptibility to breast or ovarian cancer. Those most appropriate for genetic testing have
Women who have none of these family history patterns have a low probability of having a harmful BRCA1 or BRCA2 mutation.
How does genetic testing work?
A genetic test for the BRCA mutations involves a simple blood draw that can be done in your doctor's office. The blood is then sent to a special laboratory for analysis. Results are returned several weeks later. Genetic counseling is recommended before and after testing.
How much does BRCA1 and BRCA2 mutation testing cost?
The cost for BRCA1 and BRCA2 mutation testing usually ranges from several hundred o called a variant of uncertain significance or VUS). This means that the BRCA1 or BRCA2 gene is not normal, but it is not clear if the specific gene mutation is associated with a higher risk of breast and ovarian cancer. Approximately 7% of test results come back as VUS. It is very important to discuss these (and all) BRCA test results with a health professional who is knowledgeable about BRCA testing.
What are the options if I test positive?
You have several options to manage your cancer risk.
Surveillance: Begin cancer screenings at an earlier age, including mammography and breast MRI.
Surgery: Women typically have their ovaries removed, which reduces the risk of both breast and ovarian cancer. Timing of ovarian removal is important, and should take into consideration both family planning and the usual age at which ovarian cancer develops in those with BRCA gene mutations. Women may also choose to have their breasts removed.
Medication: Two drugs have been shown to decrease the risk of breast cancer: tamoxifen and raloxifene. Both are taken as a daily pill.
Risk avoidance: Certain lifestyle behaviors have been linked to cancer risk, including diet, alcohol consumption and physical activity.
Talk to your doctor about the options that are best for you.
If I test positive for a BRCA mutation, can I be discriminated against?
In 2008, the U.S. Congress passed a law, Genetic Information Nondiscrimination Act, or GINA, to protect citizens against health insurance or employment discrimination based on their genetic information. The law says health insurance companies cannot raise premiums or claim a
pre-existing condition based only on genetic testing results. Likewise, employers cannot
make hiring, firing or salary decisions based on a person's genetic information.
What other resources are available?