Saturday, May 18, 2013

What exactly is BRCA1 & BRCA2? My Story

I am a 30-year-old female Ashkenazi Jew. My mother was positive for BRCA2. She was diagnosed with breast cancer when I was 4 and died when I was 20.

What does it mean to be BRCA1 or BRCA2 positive? With full disclosure that I am not a doctor, just an educated advocate, I will do my best to explain this gene mutation in lay terms.

When most people are born they have two genes that fight breast and ovarian cancer cells. I like to think of these genes as walls that protect us against cancer.  The genes/walls are broken down throughout a lifetime. If both your genes/walls are broken down you get cancer (breast or ovarian or both). There are many reasons why these walls are broken down in a lifetime. Many we don't know. But we do know that not exercising, being overweight, not eating properly and drinking excessively break the genes/ walls down. Also, larger, denser breasts tend to break down those genes/walls faster.

If you are BRCA1 or BRCA2 positive you are born with one faulty gene often described as a “gene mutation’. So this means you have one wall of protection instead of two. The BRCA1 mutation has a higher risk for ovarian cancer and BRCA2 mutation has a higher risk for breast cancer. But both mutations increase your risk of breast and ovarian cancer.

This is also why the older you are, the more likely you are to develop breast/ovarian  cancer, and why breast/ovarian cancer is more common in older women. Simply put, the longer you live, the more time your genes/walls that protect you from cancer have had to be broken down.

The gene mutations are found mostly in Ashkenazi Jews and African Americans. A very, very small percentage of people carry these mutations and an even smaller number of people who carry these mutations develop cancer. If you carry the gene you have a 50% chance of passing it on to your children.

Because of my mother's history, I have always been considered "high risk". I started seeing a genetic counselor with my mother at age 16. I made a promise to her that I would stay on top of the science and inform my little sister of her choices.

When I turned 25 doctors recommended  I start getting mammograms and MRI’s every year, going in for one or the other test every 6 months. After one of each, an MRI and a mammogram, I refused to continue being tested. I did my research and stayed up to date with the National Breast Cancer Coalition's information. It was unclear what those tests were going to do for me at such a young age with size 34 D, very dense breasts. And NBCC (The National Breast Cancer Coalition, an organization my mother helped found in the early 90’s) was starting to find studies and reports that suggested mammograms were often more harmful than helpful.

At age 30, I was motherless and my father was dying from throat cancer, likely the same cancer his mother died of when he was 3, and likely the result of a gene mutation that simply hasn’t been discovered yet.

Battling the emotions that I had bad genes, very bad genes, I decided it was time to get tested for the BRCA1 & BRCA2 gene. The results came back October 16th, 2012, one day after I turned 30.  I was positive.

It was recommended to continue screening every six months and I now had the option to undergo a pretty serious surgery and remove my breasts completely.

But there are other things you can do. My doctor urged me to exercise 40 minutes, three times a week, stating that the number one way to reduce your risk of cancer is to exercise. Cardiovascular activity suffocates active cancer cells.  She also told me never to gain weight, and I should never gain more than 10 pounds after high school (if I wasn’t overweight in high school). She looked at all 5’4 inches and 130 pounds of me and said “you look like you are in pretty good shape but you really can’t ever gain weight”.

I had also read that large and dense breasts were more likely to develop breast cancer. My doctor told me about a vitamin D study where they inject vitamin D directly into the breast as a preventative measure because they have reason to believe vitamin D makes breasts less dense, thus reducing a woman’s risk of the disease.

Lastly, she told me she wasn’t too concerned that I hadn’t gotten my mammograms, because now the recommended date for “high risk” women to start getting screened is age 30 or five years before the age their mother was when diagnosed. My mother was 36 when diagnosed.

Since preparing myself for the test and meeting with my breast doctor, I have lost 15 pounds. I am back to my high school size 0, and what had grown to be large DD breasts are now a charming small C cup size. I try to eat a healthy diet, I exercise 5 to 6 times a week and I have run one marathon, one 18 mile race and two half marathons.

I will do my mammogram this year as part of the vitamin D trial. If the trial is proven successful I will continue to take vitamin D. However, I will continue to refuse mammograms, likely only doing them every 2 years with an annual MRI. 

You see, there is no study on “high risk” women who exercise every day to tell me what my risk percentage is. The fact is, I don’t know and the doctors don’t know. But until I have children my breasts are staying put. They may just stay put forever because, who knows, by then maybe we will have an end to this disease.

The National Breast Cancer Coalition has not only empowered me to make my own decisions, they are fighting for an end to this disease. I urge you to know the facts, be empowered and join the deadline campaign.


  1. This is clear as a bell, inspiring, painful, brilliant Shira. You describe the whole thing so simply and intelligently. I am sharing it with everyone I know who needs to know (isn't that everyone?) and thank you. Love you xoxox

  2. I'm proud of you for making your own decisions and finding your own info. I am also an Ashkenazi Jew. My mom survived premenopausal breast cancer, and so did her sister. They are from a family of 3 sisters, who all have daughters, and most of us have daughters... so my mom opted to be tested and was told if she is negative the rest of us don't need to be tested. She was negative. I'm a fitness fanatic, whereas my mom was always overweight. Maybe that is my best habit! I plan to share your post with my teen daughters. Thanks!

    1. Love to your family and thanks for sharing !

  3. This is such a great, informative piece. As 1/2 Ashkenazi and 1/2 grandma who died of breast cancer (and 100% large, dense breasts)I take this seriously and will absolutely follow your advice. Thank you so much Shira for continuing to be brave and smart and advocating for women everywhere.

  4. I hope we DO have an end to this disease. And soon! There aren't too many Ashkenazi Jews named O'Brien out there but I am proud to be one.
    My mom died from metastatic inflammatory breast cancer at age 53. I was diagnosed with Stage IV breast cancer from the start at age 53. Genetic testing showed I do not have the BRCA1 or BRCA2 mutation, but, like your father, perhaps I have one that hasn't been discovered yet. I live in hope.

    I was interested to read more about why people of Ashkenazi descent are more likely to have the BRCA1/BRCA2 mutation:
    Scientists believe that certain disorders became more common among Ashkenazi Jews because of at least two processes: the "founder effect" and genetic drift.

    "Founder effect" refers to the chance presence of these genes among the "founders" or ancestors who immigrated to Eastern Europe at the time of the Diaspora (70 C.E.). Prior to this time we presume that these disorders were no more common among Jews than among any other people.

    Genetic drift refers to the increase in frequency of the genes for these disorders in this group, as a result of chance. Because Jews tend to not marry outside of their faith and community, the relatively high frequency of these genes among Jews did not pass into other communities, nor was the frequency lessened by the introduction of other genes from outside the Ashkenazi Jewish community