“If there must be trouble, let it be in my day, that my child may have peace.” – Thomas Paine
For you created my inmost being; you knit me together in my mother’s womb. Psalm 139:13
He is the Maker of heaven and earth, the sea, and everything in them— He remains faithful forever. Psalm 146:6
When Ryan was four, our theme is preschool choir was “God is the Maker of Everything”. We talked about it every Wednesday night, sang about it, created craft projects about it, and pretty much wore the topic down to a nub. It made an impression on my boy. One day out of the blue, with his precious little speech impediment that only his mother could truly understand, he told me, “God made everything, and when I get to Heaven I want to see His toolbox!”
On September 26, 2012, I met with a genetic counselor at my oncologist’s office to review my cancer-ridden family tree. I was worried about what she would say, but I had to admit that I found the genetic component of all of this fascinating. It really was like getting a glimpse of the goodies in God’s toolbox.
I entered the room that day feeling like I already knew the worst, and for once, I did. In fact, The Crazy Lady had struck such terror into my heart that I, in my usual pessimism, figured that Katie and I were doomed no matter what we did. The following is my best attempt to address all the risk factors even if they didn’t apply to me, because they might apply to YOU. If you want a more official explanation, the BRCA fact sheet at www.cancer.gov is really helpful. In fact, I relied heavily on that fact sheet and the Texas Oncology website to fill in the gaps where my notes were less than stellar.
BRCA is short for “breast cancer susceptibility gene”. BRCA1 and BRCA2 are genes called tumor suppressors, and in normal cells they help prevent uncontrolled cell growth. Mutation of these genes greatly increases a woman’s lifetime risk of breast and ovarian cancer, especially before menopause. BRCA1 mutations are also associated with increased risk of cervical, uterine, pancreatic, and colon cancer. BRCA2 mutations are associated with increased risk of pancreatic, stomach, gall bladder, and bile duct cancer, as well as melanoma. BRCA1 and 2 mutations also increase the risk of breast cancer in men, as well as their risk of pancreatic, testicular, and prostate cancer. BRCA2 mutations seem to be worse for men than BRCA1.
It’s interesting to note here that when I first discussed this with my daughter’s gymnastics coach (a breast cancer survivor already by that time), she couldn’t remember whether she had BRCA1 or BRCA2, but referred to it as “the bad one”. At the time, I didn’t know better and didn’t argue, but there really isn’t a “good one”.
Going back to the numbers, these next two paragraphs sum up why I made the decision to have these prophylactic surgeries:
About 12% of women in the general population are expected to develop breast cancer during their lifetime. Women with a BRCA1 or BRCA2 mutation are five times more likely to develop breast cancer than women without the mutation. FIVE TIMES.
About 14% of women in the general population are expected to develop ovarian cancer. The numbers are less clear for ovarian cancer than for breast cancer, but between 15% and 40% of women with BRCA mutations will develop ovarian cancer. Make sure you read that correctly – that’s not 15-40% of the general population that will get ovarian cancer, it’s 15-40% of BRCA mutation carriers.
The likelihood that a breast and/or ovarian cancer will be associated with a harmful mutation in BRCA1 or BRCA2 is highest in families with:
1. A history of multiple cases of breast cancer – both my mother and her grandmother had breast cancer. My father’s grandmother had breast cancer as well, but my dad’s side of the family doesn’t appear to carry this genetic mutation.
2. Cases of both breast and ovarian cancer – my mother had both breast and ovarian cancer, her mother had ovarian cancer, and her grandmother had breast cancer.
3. One or more family members with two primary cancers (original tumors that develop at different sites in the body) – my mother had two primary cancers (breast in 1973, ovarian in 1994).
4. Ashkenazi (Central and Eastern European) Jewish background – this is the only risk factor I don’t have.
There are family history factors that reveal a likelihood of BRCA1 or BRCA 2 mutations:
1. Two first-degree relatives (mother, daughter, or sister) diagnosed with breast cancer, one of whom was diagnosed at age 50 or younger – My mom was diagnosed with breast cancer at 35. I don’t have a sister.
2. Three or more first-degree or second-degree (grandmother or aunt) relatives diagnosed with breast cancer regardless of their age at diagnosis – my grandmother had ovarian cancer, not breast cancer, and my mother’s only sister has not had cancer. This one doesn’t apply to me.
3. A combination of first-degree and second-degree relatives diagnosed with breast cancer and ovarian cancer (one cancer type per person) – Mom had breast and ovarian cancer, her mother had ovarian cancer, and her grandmother had breast cancer.
4. A first-degree relative with cancer diagnosed in both breasts (bilateral breast cancer) – my mother had bilateral breast cancer.
5. A combination of two or more first-degree or second-degree relatives diagnosed with ovarian cancer regardless of age at diagnosis – my mother was diagnosed with ovarian cancer in her fifties, and my grandmother died of ovarian cancer at 45.
6. A first-degree or second-degree relative diagnosed with both breast and ovarian cancer regardless of age at diagnosis – my mother had both breast and ovarian cancer.
7. Breast cancer diagnosed in a male relative – finally, a family risk factor I DON’T have.
Cancer.gov states that these family history patterns apply to about 2 percent of women. Lucky me.
The genetic counselor took me through each type of cancer that is affected by the BRCA1 mutation.
1. Pancreatic cancer risk – 1-4% with BRCA1, less than 2% for general public. Aggressive pancreatic screening is not considered necessary. This was interesting, since The Crazy Lady had indicated that I needed annual screening for pancreatic cancer.
2. Colon cancer risk – the general public has a 5% risk of colon cancer, and risk for BRCA1 carriers is about 10%. My paternal grandmother had colon cancer and passed away at 57 from it, but the geneticist stated that the screening recommendation is still a colonoscopy at 50. I may choose to pursue that earlier, because I am a chicken.
3. Breast cancer risk – there are no recommendations for further action after prophylactic bilateral mastectomy, although my risk will never be zero. It is around 1% now.
4. Ovarian cancer risk – my 40% risk was reduced to about 5% after my hysterectomy and BSO. She indicated that after my surgery, pelvic washes should have been done to search for “occult” or hiding cancer cells. Also, the radiologist should have done serial sectioning of my tissue and tested every piece. It is my understanding that this was done.
My risk can never be reduced to zero because some breast and ovarian tissue is always left behind after surgery. Periodic MRIs and CA125 blood tests will help screen for cancer over my lifetime. As with most ovarian cancer, there is no early detection mechanism for what is called Primary Peritoneal cancer, or cancer of the inner lining of the abdomen (cells left behind after a hysterectomy). The risk of that type of cancer is very low (1%).
For men, including my son and my brother, a BRCA1 mutation would mean prostate risk of less than 30%, compared to 15% for general public. They could also have slightly higher risk of male breast cancer. My brother has decided not to be tested for BRCA1 because for him, the numbers just aren’t compelling. In men, the risk doesn’t significantly increase over the general population in any kind of cancer they aren’t already screening for annually. In his case, the genetic counselor recommended a high level of suspicion for any changes in the chest wall to detect breast cancer.
The big questions for me surrounded my children’s risk. The counselor said that generally she doesn’t advocate testing children. They can consent to be tested at age 18. Each of my kids has a 50/50 shot of having the mutation. The counselor said that she had never seen a BRCA1 positive teenager with breast cancer, and indicated that teenage breast cancer would most likely result from Li-Fraumeni Syndrome, which I (mercifully) do not have. The average age for first breast cancer with a BRCA1 mutation is 35-40 years of age, which gives us some time for a cure to be found for Katie.
I waited until age 39 to be tested. I was fortunate that it wasn’t already too late.
The genetic counselor requested that we be in touch annually, and that I contact her if anything changes for me. She also asked that I participate in a research study, as any research done in the BRCA mutation area could be of help to my daughter in the future. Finally, she recommended that I contact her in the future when it came time to tell my kids about their risk, so that we could discuss it first. I appreciated that, and was glad it seemed like something I could put off until another day.
Stories From the Furnace 