I remember when I first saw the acronym "BRCA" and wondered if it was a stock ticker symbol or perhaps the name of a new activist group. I quickly realized that it represented something much more relevant to me and to all women. BRCA stands for Breast ("BR") and Cancer ("CA") and refers to human genes (little bits of code within the body's cells) that help repair damage to our cells. When BRCA genes become mutated, or altered, to the point where they can no longer repair damage in other cells, then those cells with mistakes can ultimately become a cancerous growth. We need the protein that the BRCA genes code for in order to stay healthy.
A BRCA gene test is a blood test that checks for any mutations in the BRCA genes, of which there are two types, BRCA1 and BRCA2 and many subtypes. If the test finds gene changes in either BRCA1or 2 (termed a "positive" result), this means your risk of breast or ovarian cancer is higher, and that there may also be an increased risk that other cancers could develop. A "negative" result means that no harmful changes are detected in the genes. To be clear: a BRCA test does not test for cancer itself, just for changes in these genes.
BRCA testing is done for people with a strong family history of breast or ovarian cancer. Last fall, one of my colleagues at BFFL CO discovered that she was BRCA positive. Her mother also tested positive. Naturally, they both had a number of questions for me and for their genetic counselor, so I decided to put together a checklist.
Who should get tested?
You are considered at risk if you have any of the following:
1) Two first-degree relatives with breast cancer, one of whom was diagnosed before age 50;
2) Three or more first or second-degree relatives diagnosed with breast cancer at any age;
3) Both breast and ovarian cancer among your first and second-degree relatives;
4) A first-degree relative with cancer in both breasts;
5) Two or more relatives with ovarian cancer;
6) One relative with both breast and ovarian cancer;
7) A male relative with breast cancer;
8) Ashkenazi Jewish ancestry.
Understandably, it's the sort of test that can cause worry and send our imaginations running wild. Therefore, if you decide to have a BRCA test, you should meet with a genetic counselor before and after the test to better understand the benefits, risks and possible outcomes. If your test is positive, a counselor's support can help you make informed medical and lifestyle decisions.
What should I do if I get a positive result?
You should talk to a genetic counselor to understand your options, which may include preventative measures such as:
• Getting a clinical breast exam at regular intervals;
• Having a yearly mammogram alternating with an MRI (so one test every 6 months);
• Undergoing preventative mastectomy (removal of all breast tissue);
• Planning to have children before age 30, if possible;
• Having your ovaries removed after having children or after age 35;
• Taking a "chemo-preventative" medication such as Tamoxifen or another estrogen receptor antagonist.
According to most recent estimates, 55 percent to 65 percent of women who inherit a harmful BRCA1 mutation and 45 percent of those who inherit a similar BRCA2 mutation will develop breast cancer by age 70. About 39 percent of women who inherit a harmful BRCA1 mutation and 11 percent to 17 percent of those who inherit a harmful BRCA2 mutation will develop ovarian cancer by age 70.
I am worried. Should I get tested even if I don't meet the high-risk criteria?
• For women whose families do not have risk factors for BRCA mutations, a genetic test is not likely to give any useful information about their chance of developing breast cancer;
• Women from average-risk families rarely have a positive test outcome;
• It is possible for a BRCA gene test to give a false-positive test result, so it is not recommended for a person without risk factors.
You can talk to your primary care doctor or gynecologist to determine whether or not a meeting with a genetic counselor is indicated or would be helpful to you. Most major breast centers have at least one designated person who can assess your risk and counsel you for testing. However, as is the case with many medical procedures, first make sure you're informed and understand the meaning of different possible test results.