BRCA2 Gene Mutation info

Psychology
Everyone is in a different place. Our experiences put us in different places. Some of us are momless moms, caregivers, cancer survivors, young moms wanting to have children, grandmothers etc. Mile stones have a way of playing with our emotions. For example: 1 year after my treatment had finished I was an emotional wreck. I had been operating on auto pilot. At the 1 year mark I had to face emotions. I remember standing in the empty parking lot of the huntsman cancer center and screaming, “I don’t want to be a cancer survivor.” I know Charlotte has had to go through possible diagnosis of cancer twice a year now for years. Every time she does it brings back all the memories of growing up without a mom and the fear of leaving her children to grow up momless. We all have triggers and hard memories. Those have to be acknowledged as decisions are made. They play a part. They are real.
BRCA2
The extended Webb Family has had several people who test positive for the BRCA2 gene mutation. The gene mutation raises your risk for breast cancer substantially for both Men and Women. Given our family history our risk is raised by as much as 84% IF YOU ARE POSITIVE FOR THE BRCA2 GENE. That sounds scary and overwhelming. It is very serious but you should know that the risk is spread over a life time not all 84% TODAY. Your actual risk also depends on your age. People my age, 40’s, are at a much higher risk than a 20 year old. For example: the 20 year old might have 5% risk while it jumps to 50% for the 40 year old.
Testing for the BRCA2 Gene mutation
Testing for the BRCA2 is a spit test. You spit into a cup following the directions and then they send it off to the lab. (It sounds easy and painless, remember the psychological side.) Because we already have family member who have tested positive for BRCA2 a shorter version of the test can be done. It only costs about $400. Make sure your doctor orders the right test. If not it could cost you thousands. There is a BRCA 1 mutation. It is extremely rare that one family would test positive for both 1 and 2. That is why they are able to do the less costly test and just look for the specific gene mutation we know is in our family history.
Surveillance vs. Pre-emptive surgery
If you’ve tested positive for the BRCA gene, what are your options?
Surveillance
It is important to detect cancer early so you would be told to have frequent exams (at least if not more than once a year, starting at age 20. If they find anything abnormal at all they would want to do a biopsy. For some people this ends up being the mastectomy via biopsy option.
Pre-emptive Surgery
Radical mastectomy is the other option. There are different types of surgery. IE nipple sparring, skin sparing, reconstructive. A mastectomy significantly reduces the risk of breast cancer. It is possible to get breast cancer but it isn’t very likely. What are the pro’s and con’s of each. That depends on your age and experiences. Are you past the child bearing stage. Do you look in the mirror and see time bombs ready to explode? Are you experiencing a mastectomy via biopsy or do your screenings come back normal every time? Etc. You have to determine what is best for you.
Ovarian Cancer
Ovarian cancer also is a big concern. The risk for us is also higher. They do not have a good way to do surveillance. By the time they spot ovarian cancer it is usually very late in the game. Once again you have to decide what is best for you. If you have an uverectomy you should also take out the tubes. They are made out of the same type of cell tissue. You can usually leave the uterus because it does produce some hormones to help protect your heart and bones. When making the decision to have an uverectomy or a hysterectomy, you need to consider where you are in the reproduction cycle and what if any hormone replacements will be necessary.
Hormone replacement therapy
Long term hormone replacement therapy increases the risk of breast cancer. They have found that they should only use hormone replacement therapy until about the age of normal menopause onset. They have also found that you should decrease the amounts as you get older like your body would naturally. Hormone replacement therapy is needed to help prevent heart disease and protect your bones. The uterus naturally produces some hormones. If you have had a radical bilateral mastectomy your risk of breast cancer is so small that the hormone replacement therapy isn’t a problem. If you haven’t had a mastectomy and you start hormone replacement therapy you are raising your risk substantially from its already high level. So having an uverectomy (Keep your uterus) instead of a complete hysterectomy is usually the recommendation if you aren’t having problem periods. Again your age also plays a big part. You don’t want to be on hormone replacement therapy for a long time. Remember your risk is lower if you are young.
Passing BRCA2 on to the next generation
If you test positive for BRCA2 you have a 50% chance of passing it on to your children, boys or girls. (They don’t recommend testing children until they are 18ish so they can understand better.)The 2 options for not passing it on are testing a pregnancy early on for the gene mutation and terminating the pregnancy if it is positive. (Not a great option) or doing invitro fertilization where you test all of the embryos and only implant those that don’t have the BRCA2 gene mutation. (Less offensive but pretty invasive.)
Down winders
Down winders risk is increased 1 or 2 %, but not much. There are other issues but the breast cancer comes from the gene mutation.
Birth control
We forgot to ask about this.
Other Cancers
BRCA2 gene mutation also increases the risk of melanoma and pancreatic cancer