late July, 2008: genetic test results & statistics

Two weeks after the lumpectomy surgery, I went in to see the genetic counselor for my test results. She told me that my blood test came back positive for carrying the BRCA2 gene mutation. I knew it was a possibility, but I didn’t think it would be so. I thought my cancer was just an unlucky fluke.

My first thought went to my babies – this means that they each have a 50/50 chance of also having it; what a horrible feeling to know that I did this to them. Even though I had no clue I had it, I feel so guilty. At least they’ll grow up knowing and being vigilant about it so they can remain healthy and hopefully they’ll never ever get this. My poor babies. They don’t even have a clue how serious what I have is, but I guess it’s better that way. I’ll make it though this hurdle, too.

When I saw the surgeon next she highly recommended I have a bilateral mastectomy and oopherectomy to reduce my risk or recurrence or of getting a new cancer.

Here are some facts about cancer and BRCA2 gene mutations:

For most people who get cancer, the mutations in the genes happen at random and do not run in families. This is referred to as sporadic cancer. However, in some families, mutations that increase the risk for cancer can be passed down from one generation to the next. These types of cancers are referred to as hereditary cancers. Approximately 5% to 10% of breast and ovarian cancers are associated with inherited mutations in cancer susceptibility genes.

BRCA2 mutations lead to markedly increased lifetime risks for breast and ovarian cancer. Although the exact level of risk can vary among and within families, the current estimates of cancer risk for individuals who are positive for mutations in BRCA2 are:

• Risk of breast cancer (in women) up to 34% by age 50, up to 85% by age 80

• Risk of breast cancer (in men) up to 7% by age 80

• Risk of second breast cancer in women up to 50% by age 70, up to 12% risk of primary breast cancer within 5 years of the first

• Risk of ovarian cancer up to 2% by age 50, up to 27% by age 80

• Risk of other cancers (prostate, melanoma, pancreatic) may also be increased above the general population

BRCA mutation carriers have the following management options available:

• Healthy lifestyle – a high fiber, low fat diet and regular exercise, alcohol only in moderation, no tobacco products. It’s not yet known to what effect, if any, lifestyle factors may have on hereditary breast and ovarian cancer susceptibility. However, they may benefit many aspects of a person’s overall health.

• Surveillance & screening – for breast cancer in women, mammograms, clinical breast exams and self-breast exams on a regular basis.

• For ovarian cancer – pelvic exams every 6 to 12 months, as well as transvaginal ultrasound, and annual CA-125 blood test. Currently, there is no evidence to prove that these tests are effective in reducing ovarian cancer mortality.

• For pancreatic cancer – reports indicate increased risk in families with BRCA2 mutations; however, there currently are no proven screening methods for pancreatic cancer.

• Risk reducing surgery (for breast cancer) – prophylactic mastectomy. Studies of the effect of risk reducing mastectomy in women with BRCA1 & 2 mutations report that the surgery decreases the risk of breast cancer by 90%.

• Risk reducing surgery (for ovarian cancer) – prophylactic salpingo-oopherectomy (removal of the ovaries and fallopian tubes). Studies of women with BRCA 1 & 2 mutations who underwent this procedure report a risk reduction in the range of 95% or more. This procedure performed on women before menopause would also reduce the risk of breast cancer.

• Chemoprevention (for breast cancer) – several chemotherapeutic agents such as Tamoxifen and Raloxifen may have a role in reducing risk of breast cancer in high-risk families.

• Chemoprevention (for ovarian cancer) – birth control pills reduce the risk in the general population. One study reports that this effect may also apply to carriers of BRCA 1 & 2 mutations, in whom the risk may be reduced by as much as 50%.