Breast Cancer: Testing for Genetic Mutation

When I was 27 years old, five words changed my life: “Positive for a deleterious mutation.”

I hadn’t thought much about taking the “simple blood test” to find out if I carried mutations for the so-called breast cancer genes–BRCA1 and BRCA2. I was young, just back from a solo sojourn to India and Nepal, and more focused on how to pay my rent in New York City than my future health.

It wasn’t until the results of that test came back positive and I was staring in the face of my mother, a 20-year ovarian cancer survivor, that I knew my fears had crossed over from suspicion to reality.

The suspicion itself was hazy. We never said the “C word” in my family after my mother went into remission, and my favorite grandma used her soft arm as a chest block during cuddling sessions. It wasn’t until years later, while sitting in a sterile genetic counselor’s office, that I understood why: As I read the words “breast cancer” scribbled next to my grandma’s name, I gasped. She was hiding the hole where her breast used to be. And everyone in my family was hiding the history of cancer that now lay right in front of me. I felt like I was at the bottom of a funnel.

There was no malice to their omission. They were conditioned not to mention the word “cancer” in my mother’s house; yet she’s named after her grandmother and aunt, who both died from it.

What did it mean to know this, to find out I had the mutation? In medical terms, it meant that I have an estimated lifetime risk of up to 85 percent of getting breast cancer, and an estimated lifetime risk of up to 60 percent of developing ovarian cancer. In practical terms it meant that I would have to start watching myself carefully—breast MRIs and transvaginal ultrasounds every six months—and even consider removing my still-healthy breasts and reproductive organs altogether to avoid disease. That was a lot to swallow at 27!

So why would anyone want to find out such grim statistics? Admittedly, I asked the question after the fact. But the journalist/documentary filmmaker in me needed to go through the questioning process, albeit in reverse. It led to five years of researching and shooting and editing a documentary. (It’s a mega question!) That film turned out to be “In the Family,” which was broadcast on PBS on the “P.O.V.” series nationwide on Oct. 1 (if you missed it, it’s streaming throughout October on P.O.V’s site and available on Netflix and for purchase

In my film, Linda Pedraza, a brave BRCA-positive woman staring in the face of terminal cancer, says, “If I could have turned the clock back, I would have all of those surgeries. It may not be the ideal life, but it’s life and you don’t mess with it.” After five years of questioning, I’m left with Linda’s words and the painstaking realization that I’m glad I know I have this messed-up gene. Because knowing may be the key to evading suffering and to long-term survival. If I never took the test, I would still be walking around with a gnawing suspicion and no security blanket whatsoever.

To all of you out there who are considering genetic testing for BRCA, here are a few words of advice:

REMEMBER THAT GENETIC TESTING IS YOUR CHOICE. First of all, the decision whether or not to get genetic testing for BRCA is entirely individual. There is no right or wrong, only what is right for you.

TALK TO YOUR FAMILY. The best way to get accurate information about your family health history is from family members. Ask your relatives if there are any first- or second-degree relatives who had breast and ovarian cancer. It is important, if possible, to record the age of onset, the nature of the disease, and whether or not it was the cause of death. Please note that men can carry BRCA mutations, develop other cancers as a result (e.g., prostate cancer), and pass them along to their children. Therefore, it is essential to also record health information in female relatives on the paternal side of the family, as well as the health history of men. Once you have recorded this information, you will have a more accurate picture of whether or not your family fits the BRCA profile. If you need assistance creating your family tree, the Centers for Disease Control has a great resource here. Once your family history is recorded, talk to a certified genetic counselor for interpretation (more on that below).

SEE A GENETIC COUNSELOR. A genetic counselor can help interpret your family health history and let you know if BRCA testing is right for you. To find a genetic counselor, in your area, visit the
National Society of Genetic Counselors.

ARM YOURSELF WITH INFORMATION. You should do as much research as possible on the options available for BRCA-positive women ahead of time, in case you do test positive for the mutation(s).

ASK YOURSELF IF THIS IS THE RIGHT TIME. You already have all of your genes and the blood test will not change whether or not you have the BRCA mutation. Therefore, you should decide if the time is right for you to find out. A few questions that may help in decision-making are: Will I do anything different if I get a positive test result at my age?; do I feel that this information would add too much pressure to my life?; do I have a support structure in place to help me deal with my results, positive or negative; is my family supportive of my decision to find out my status?

TALK TO YOUR FAMILY AGAIN. Testing for BRCA not only affects the individual taking the test, but the entire family. If you are the first to test without a known mutation in the family (this means that a positive test result for BRCA has already been identified in a blood relative), you could be the first to identify that other family members might be at risk. To prepare for this possibility, talk with your immediate family ahead of time as to what responsibility you have in notifying other family members should you discover a positive BRCA mutation. You may also want to check with your extended relatives ahead to inquire as to whether or not they want the results. These conversations will ensure that the process is as open and transparent as possible.

Joanna Rudnick is the director and producer of “In the Family,” a film about predicting breast and ovarian cancer, and the director of development at Kartemquin Films.

My intent is to overcome Breast Cancer

For more breast cancer articles, go to Intent is a new site providing content and a community for who you aspire to be–personally, socially and globally.

By Joanna Rudnick, from Intent


Vural K.
Past Member 8 years ago


Vanessa O.
Vanessa O9 years ago

I saw your documentary "All in the Family" Very well done! I have the BRCA1 mutation. The genetic test was just a confirmation of my suspicions. I find that it has changed my life; in a good way. I have cleaned up my act. I am educatinng myself. I am eating better and exercising. I feel like I have a choice now, not a death sentence. It's a wonderful documentary for anyone still on the fence about whether to get tested or not. And reccomended for families of BRCA1 or 2 carriers.

Josephine W.
Josephine W9 years ago

I am 64. I have my 3rd cancer. I had breast cancer in 5-2002,had a lumpectomy, then a new type came back in the same spot. I had a mascectomy in 3-2004. Now I have what they think is ovarian cancer unrelated to the breast cancer found in stage 2. However, my suspicions are that it is in the peritoneal (SP?) cavity as my oncologist suspected in the beginning. I had a paternal grandmother who died of breast cancer when I was six months old, and a maternal aunt who died of uterine cancer when I was 18.Then in 4-2002 I lost an older sister with lung cancer at age 62. These are the only three family members that are known to have had cancer. My family has had more heart related illnesses. Now, because of my bouts with cancer my sisters (6 left that are younger than I) and my daughters are at a higher risk, if I have read correctly. I have never been a smoker.I have always tried to eat healthy. I have no idea what has caused me to be cancer prone. I consider myself to be blessed, however because each time I have been diagnosed early and have never had any chemo or radiation. I took Poly-MVA in 2004 after my second cancer for about three months. This time I am taking ********** product ( a powder) because a woman at my church was terminal and is now cancer-free after taking it upon advice of a nutritionist who also told her what to eat and what NOT to eat. I also am taking MonaVie acai juice which has been proclaimed as a "superfood" on the Oprah show. It really does help

Theresa Tocco

I have the genetically transmitted BrcaaII gene. I t gave me the courage to have my ovaries and other breast removed after a DCIS breast cancer . My oldest daughter also tested positive, but she looks at this as a way to lengthen her life instead of as a curse! Don't close your eyes and look the other way as past generations have done. Share the information!!!!