Is Breast Cancer Inevitable for Women with the BRCA1 Gene?

21 06 2011

genetic breast cancer, brca 1, brca 2, chromosome 17, triple negative

Editor’s Note: This Blog post, written by Amy Rauch Neilson, is reprinted with permission from the GE Healthymagination site. It appeared there originally on June 21, 2011 at 12:00 p.m.

Is a breast cancer diagnosis inevitable?

For women who are carriers of the BRCA 1 (breast cancer) gene, it is so close to an absolute certainty that to learn you are positive for the mutation is nearly as terrifying as a breast cancer diagnosis itself.

The BRCA 1 gene, discovered in the mid-1990s on Chromosome 17, like its sister, BRCA 2, is a tough opponent. Women who carry either mutation have up to an 85 percent lifetime risk of breast cancer. As if that weren’t enough, there’s also an increased risk – up to 60 percent, depending on the mutation — of ovarian cancer.

Reading the statistics is one thing. But the reality hits home when it happens in your family. Over and over again. As it has in mine.

My grandmother died in 1948 at the age of 46 of what her doctors described as a “female cancer.” My mother was diagnosed with breast cancer in 1973, at the age of 34, and battled metastases for 19 years before succumbing to cancer in 1992. My sister Julie – a two-time survivor — was first diagnosed in 1985 at age 26.

The gene mutation is more prevalent than many people realize. According to FORCE, a national non-profit foundation for individuals and families affected by hereditary breast and ovarian cancer, experts estimate that, in the general population, one in every 300 to 500 people harbors a BRCA mutation.

The discovery of the gene mutation and subsequent testing available to women with a strong family history of breast and/or ovarian cancer has armed our generation with a powerful tool: Prevention.

Women with this gene can significantly reduce their chances of a cancer diagnosis by ridding themselves of the body parts where this gene mutation fires up – breast and ovarian tissue. That’s what I decided to do. I was in the midst of being tested for the gene in early 2006 when I discovered a lump the size of a blueberry in my left breast. Even though my tumor was a Stage 1 and I could have opted for what is known as “breast-conserving” surgery – a lumpectomy – when I learned I was positive for the BRCA 1 gene, I instead chose the more radical double-mastectomy.

But even that, sometimes, isn’t enough.

On January 9, 2011, I discovered a hard lump the size of a shooter marble wedged between my left breast implant and my reconstructed “fake” left nipple. Three days later, I was diagnosed with breast cancer once again. This was not a recurrence, but a new primary. Even worse, subsequent testing showed that this time, I am a Stage 4, as the breast cancer has spread through my lymph nodes and into my lungs.

Even though my decision to undergo a double-mastectomy had significantly reduced my chances of a second breast cancer, my gene mutation had indeed refired in the few healthy breast cells that the surgeons had left behind. According to the National Cancer Institute, “Existing data suggest that preventive mastectomy may significantly reduce (by about 90 percent) the chance of developing breast cancer in moderate- and high-risk women… Because it is impossible for a surgeon to remove all breast tissue, breast cancer can still develop in the small amount of remaining tissue.”

So often we think of medical science as a modern-day Superhero – able to fix any obstacle we face, no matter how harrowing.

I am currently undergoing chemotherapy treatment with two drugs that didn’t even exist when I was diagnosed with my first breast cancer in 2006. And I was fortunate to be selected to participate in a clinical trial which offers hope for breast cancer patients like myself who are diagnosed with the particularly hard-to-treat triple negative breast cancer.

But we still have a long way to go. In the meantime, prevention through self-breast exams and risk-reduction surgeries is still key.

Amy’s Bio, which appeared on the GE Healthymagination site: Guest blogger Amy Rauch Neilson is a freelance writer who specializes in personal finance and investing. Her work has appeared in national publications and websites including Better Investing Magazine, StockCentral.com, BizActions.com, The Detroit News, Efinancialcareers .com, Pages Magazine, and USA Today, among others. She is putting the finishing touches on her memoir, No Safe Place, about the four generations of women in her family who have been identified as carriers of the BRCA 1 gene. Her blog, http://www.itsinthegenes.org, has subscribers from 17 countries and all 50 states.

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14 responses

21 06 2011
Maureen

Good recap. *heart* ewe.

21 06 2011
Deborah Ann Peters

My prayers continue for you, Don and Theo.

21 06 2011
Kathy

Excellent. You are so right to remind all of us, women and men alike, to have our examinations every year and more often, if necessary, to keep aware of our bodies and to get professional opinions if we notice a change. Thanks Amy. You and your family continue to be in my daily prayers.

21 06 2011
Molly MacDonald

Amy, I do not know how or what you eat, but sugar feeds cancer and I strongly suggest you move to a vegan diet. Check out Crazy Sexy Diet . . . .

21 06 2011
Amy Rauch Neilson

Hi Molly! Ordered both of Kris’s books and they arrived today! Very excited to read them and keep me penned in for Oct. 1!

Amy

21 06 2011
Jenn L.

Thanks for the article. I’m a BRCA-2 positive gal myself 🙂 The one redeeming thing to “knowing” is that I can start prevention and early detection now at the ripe age of 26. It’s nice to know that while the odds aren’t in my favor for getting it, the odds are in my favor for not dying from it. Thanks again!

22 06 2011
Jennifer Bopp Stegbauer

Great article Amy! I hope many readers of that magazine sign up for your blog!

22 06 2011
Jennifer Weallans

Amy, just wondering if you had chemo right after your double mastectomy?

22 06 2011
Amy Rauch Neilson

Yes, pretty much. I have a double mastectomy on April 14, 2006, then chemo started May 31, 2006. Does that help?

22 06 2011
Karen Carico

Hey Amy, were both your bouts w/ cancer triple negative? I was triple negative in August 2007 and I’m waiting for the magical 5 year period to arrive, but I guess it really doesn’t realy mean safety reaching that milestone afterall.

22 06 2011
Amy Rauch Neilson

Hey, Karen! No, my first one was estrogen and Her2Neu negative, but 60 percent progesterone positive. This new one is the triple negative. I just read a very interesting article last night that Triple Negative is the LEAST likely to recur — I will dig up the article and send you the link. What was your treatment for the Triple Negative diagnosis in 2007 — what did they use and how long did it take you to go into remission AND what stage were you?
Best,
Amy

22 06 2011
Amy Rauch Neilson

Karen–
Here is one of the articles — technical, but informative. I’ll keep looking for the others.
http://www.springerlink.com/content/h381530x04747367/
Amy

8 07 2011
Rhonda Traylor

Hey Amy!
Long time no talk to to. I just wanted you to know that I am praying for you and throwing “love” vibes your way. Keep fighting the good fight.

8 07 2011
Rhonda Traylor

Oh and I forgot to ask if you have called the University of Pennsylvania?? They are working on a procedure that uses BRCA1 to defeat cancer. They have had a lot of success from what I saw on a news report. Well that’s all 🙂
Rhonda

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