Breast cancer patient beats the odds, thanks to genetics

By Martha Hunn
WBTW News 13 Anchor
Published: September 4, 2008

Most everyone knows someone who has battled breast cancer- either a mother, a sister, or a friend.  Doctors at the Medical University of South Carolina Hollings Cancer Center tell us less than 20 years ago, the treatment for breast cancer was very standard.  Everyone got the same treatment.  So although it was simplistic, it was very straight forward.

Today, thanks to genetics research, the medical community knows much more about breast cancer, and treatment options are as unique as each patient who is diagnosed.

Dr. Megan Baker Ruppel, a breast cancer surgeon at MUSC says, “the diagnosis is daunting.  It’s very frightening but it’s very manageable, once we drill down and sort out what each patient needs.  The best treatment of it though is prevention of it all.  That’s where the genetics comes into play.“   

You probably know that many elements make you at risk for getting cancer, and you might also realize that your family history plays a huge role.  That’s what Lisa Bernard found out.  Her life was normal until 9 months ago, when her doctors told her what every women dreads- “You have breast cancer”.
“I think the first think I thought was Oh my God, I could die. That there was that real possibility that there was really something wrong,“ Bernard said.  “And then,  I just think I started the prayers that I would find good people to help me through the journey.“

Because of Lisa’s age, and because she had a rare form of breast cancer, her doctor told her she needed genetic testing to see if she has a gene mutation that could make her at high risk for more cancers.  Most often, the first step is to meet with a genetic counselor.   

Lyn Hammond is a genetics counselor at MUSC.  She helps guide women everyday about their options.  She explores their family tree of cancer and then helps them determine if they should have genetic testing.  “Most of the testing is for the BRCA gene- BRCA 1 and BRCA 2,“ Hammond said.  “They account for the majority of inherited cancers.“  Hammond says most cancers are not of genetic origin, but if your cancer is, it’s powerful knowledge to have in managing your own health. 

“None of us think about our genes when we get up in the morning.  So it’s nice to have that ability to bring people forward and help them to understand this,“ Hammond explained. 

Dr. Baker sees first hand with her patients how the advances over the past couple of decades in genetic research are saving lives.  I’m very lucky in my job that I see lots of good stories and so many outcomes.  The vast majority of my patients are alive and well cancer free five and even ten years from their diagnosis.  I’m exceptionally optimistic on their behalf and I think very realistically so,“  Dr. Baker adds, “We’re learning everyday about the genetics of breast cancer.  Within this building itself we have three labs dedicated to the genetic analysis and diagnosis of breast cancer,“ Baker said.

And in those labs… Dr. Dennis Watson, a genetics researcher at MUSC, says cutting edge research is underway.  He said that 20 years ago when cloning came to the forefront, the information was available, but not helpful for physicians or patients at the time. He said all a doctor could tell a patient was, “you have bad news and bad news. We know you have a mutation and we don’t know what to do with you”.

Today, they’re figuring out how to outsmart very smart cancer cells, and how to attack those cells more precisely.  These advances now give women hope they’ll survive.  “What I’ve really seen is women are really empowering themselves much more to take a hold of their own healthcare,“ Dr. Baker said.

Lisa Bernard did just that.  She tested positive for the BRCA 1 gene, and she made the decision to do what doctors recommended- to have her breasts removed and reconstructed, and her ovaries removed.  Less than a year since her diagnosis Lisa says she feels like she’s waking up from a bad dream. She is now back to work, and back to her life.  “There’s a sense of peacefulness about it,  that I just don’t have to worry everyday.  I’m very grateful to the doctors for suggesting the genetic testing and I’m so grateful to the doctors who did the surgery.“

To put this into perspective, because Lisa has the BRCA 1 gene mutation, that would mean she has between a 50 and 87% likelihood of getting breast cancer again.  And a 44% chance of getting ovarian cancer.  Those are horrible odds.  But because she had the surgeries, she now has more than a 90% chance of not getting those cancers again.

And another breakthrough- in the past, those who chose to get genetic testing feared that information could be used against them by insurance companies or their employers. But those worries go away with the passage of the Genetics Information Discrimination Act… Or GINA.  It protects patients from discrimination, and the law goes into effect in November 2009.   

If you would like to know more about the High Risk Breast Cancer Initiative underway at the Hollings Cancer Center, call 843-876- 1504.  You can also check out information from the National Cancer Institute at http://www.cancer.gov/clinical trials, or http://www.cancer.gov/cancertopics.