BRCA1 (breast cancer 1, early onset, often pronounced /ˈbrækə/) is a human tumor suppressor gene that produces a protein called breast cancer type 1 susceptibility protein. It originally stood for Berkeley, California,as the first evidence for the existence of the gene was provided by the King laboratory at UC Berkeley in 1990. The gene was later cloned in 1994 by scientists at Myriad Genetics, who continue to have a monopoly on all BRCA genetic testing. BRCA1 is expressed in the cells of breast and other tissue, where it helps repair damaged DNA or destroy cells if DNA cannot be repaired. If BRCA1 itself is damaged, damaged DNA is not repaired properly and this increases risks for cancers.
For me, the finding of this gene mutation in the early 1990s probably saved my life from ending prematurely to breast or ovarian cancer. It has only been in the last several years (2005 to present) that awareness about these gene mutations has been raised and women and men have begun to be tested for this mutation in higher numbers. The first commercials have been out on public television since summer of 2010 about BRCA Analysis testing through Myriad. Various television networks have produced shows and movies about BRCA gene mutation carriers. In September of 2010, the congress unanimously passed a bill that made the last week in September to be National Hereditary Breast and Ovarian Cancer Week (HBOC), which raised much more awareness.
I found out that I carry the BRCA 1 gene when I was just turning 34. Just eight short years shy of the age of the first person in my family (that I know of) passed away from breast cancer and also the age that my grandmother was diagnosed with ovarian cancer.
Positive for a Deleterious Mutation: Overview
- You have a mutation or alteration in either the BRCA1 or BRCA2 gene
- You have hereditary breast and ovarian cancer (HBOC) syndrome
- HBOC syndrome increases the risk of various cancers, primarily breast and ovarian cancer
- While the risk of developing these cancers is high, not everyone with HBOC syndrome will develop cancer
|If You Have NOT Had Breast|
or Ovarian Cancer:
|Mutation Carrier||General Population|
|Breast cancer by age 50||33%-50%||2%|
|Breast cancer by age 70||56%-87%||7%|
|Ovarian cancer by age 70||27%-44%||<2%|
|Male breast cancer by age 70||6%||.05%|
|If You HAVE Had Breast |
or Ovarian Cancer:
|Mutation Carrier||General Population|
|Ovarian cancer||15%||not available|
|Breast cancer after 5 years||27%||3.5%|
|Breast cancer by age 70||64%||11%|
|Other Cancer Risks:*||Mutation Carrier||General Population|
|Prostate cancer by age 80||20%||15%|
|Pancreatic cancer by age 80||2%-4%||<1%|
Most of the specialists that I consulted about this stated that my personal risk most likely would mirror the other relatives in my family that also have the same gene mutation, even though this theory has not yet been 100 % proven. Since I inherited this gene from my father and his mother's side of the family, I know that my paternal grandmother had ovarian cancer around age 42, breast cancer at 48 and breast cancer again in the other breast at age 55. One of her sisters, who was also a gene mutation carrier, passed away from breast cancer by the age of 42. Her daughter had one of the first prophylactic mastectomies ever performed in the 70s, but then passed away from ovarian cancer at age 60 (diagnosed at 55). A male cousin of mine was diagnosed with breast cancer at age 55. So, the fact that I have relatives who have had both breast and ovarian cancer in my family and it is a very early onset beginning in the early 40s, the specialists stated to me that my risk was probably on the higher end (87 % for breast and 50% for ovarian) and that I would most likely begin to develop these cancers around age 40.
- Monthly breast self-exams beginning between the ages of 18 and 21 and annual or semiannual clinical breast exams, beginning between the ages of 25 and 35
- Yearly mammography and breast MRI beginning between the ages of 25 and 35 (or starting earlier, based on family history)
- Annual or semiannual transvaginal ultrasound and CA-125 bloods tests to screen for ovarian cancer beginning between the ages of 25 and 35 (or starting earlier, based on family history)
- Drugs such as tamoxifen or raloxifen have been shown to reduce the risk of breast cancer
- Oral contraceptives may reduce the risk of ovarian cancer
- Preventive removal of the breasts (mastectomy) significantly reduces the risk of breast cancer
- Preventive removal of the ovaries (oophorectomy) significantly reduces the risk of ovarian cancer, and also breast cancer
- Regular monthly breast self-exam
- Annual clinical breast exam
- Talk to your doctor about mammography
- Follow population screening guidelines for prostate cancer
It has been found that most BRCA 1 carriers when they get breast cancer, the type that they get is called triple negative breast cancer. This subtype of breast cancer is generally diagnosed based upon the presence, or lack of estrogen in the three receptors on the cancer cells. The most successful treatments for breast cancer target these receptors. Unfortunately, none of these receptors are found in women with triple negative breast cancer. In other words, a triple negative breast cancer diagnosis means that the offending tumor's three receptors are all estrogen receptor-negative, thus giving rise to the name "triple negative breast cancer." On a positive note, this type of breast cancer is typically responsive to chemotherapy, which is a BRCA 1 carriers only option when he or she gets triple negative cancer. Because of its triple negative status, however, triple negative tumors generally do not respond to receptor targeted preventative treatments, such as the drugs listed above (tamoxifen and raloxifen). Depending on the stage of its diagnosis, triple negative breast cancer can be particularly aggressive, and more likely to recur than other subtypes of breast cancer. BRCA 2 gene mutation carriers usually do not have triple negative breast cancer and therefore can take the prevention drugs listed above.
As I have already written, after getting this information and consulting with a genetic counselor, a radiologist, a breast oncologist and a gynecological oncologist, I have decided to have both of the preventative surgeries. The ovarian surgery was easiest to decide on because I have already been able to have two biological children and Nathan and I decided after our second child was born, that we were not going to have any more biological children. ALL of the specialists recommended that I have an oopherectomy to remove my fallopian tubes and ovaries (Fallopian tubes too because most ovarian cancers start in the tubes since they are so close together). NO ONE recommended that I keep them. They based their decision on the fact that I have already had my biological children and that ovarian cancer is so hard to detect. Most of the time once it is detected, it has already spread to other organs in the abdominal cavity, therefore, making treatment difficult or unsuccessful. Even though the mutation that I have DOES NOT carry any additional risk for cervical or uterine cancer, I decided to also have my uterus and cervix (hysterectomy) removed at the same time because if I keep my uterus and cervix, I would have to go on an estrogen AND progesterone supplements and my breast oncologist told me that progesterone could feed more breast cancer for me. Since BRCA 1 mutation carriers usually get triple negative breast cancer, there is no increased risk for taking an estrogen supplement. Also, the hysterectomy/oopherectomy is an easy surgery to recover from. It is a 2-hour, laproscopic surgery and I will spend one night in the hospital. After 1-2 weeks, I will back to normal with only a few restrictions on bathing and lifting. On the down side, I will go straight into menopause, but more on that another time.
So, that decision was pretty simple. Get rid of the fallopian tubes and ovaries since I do not need them anymore and decrease my ovarian cancer risk by 96 %.
The decision to have my breast removed was a little bit harder for me. Why? because it is major surgery, has a 4-6 week recovery time and reconstruction (which I am definitely doing) is a process and could take a year or longer. I really had to weigh the risks of surgery with the risk of getting breast cancer. I talked with several friends and family members who either had had breast cancer in their 30s or are diagnosed with breast cancer right now. Every person I talked to stated that if they would have been given the option of surgery to prevent getting cancer, they would have done it in a heart beat. Those who ended up having a mastectomy stated that it was the easiest part of cancer treatment-much easier than enduring months of chemotherapy and the insurmountable stress and strain having a diagnosis of cancer and dealing with treatment puts on you and your family.
In the end, it was my 87 % risk for breast cancer coupled with the fact that the type of breast cancer I will most likely get (triple negative) is considered by ALL specialists to be aggressive, early onset, difficult to treat and a very high likelihood to recur, that made my decision for me. So, I have chosen to have a prophylactic (preventative) bilateral (both breasts) mastectomy to reduce my personal risk of breast cancer by 98%.