August 2013

New Science: BRCA Gene Affords Proactive Path

Author: Kitty Bartell | Photographer: John Brackett

Femininity can express itself in many fabulous ways. Does the sale rack at your favorite boutique make your heart beat a little faster? Do increased income projections at work inspire you to make a reward-yourself-purchase in the form of a new Spartina 449 bag? Can your hairstylist predict your relationship status based on the cut and color you select? Does your doctor know your BRCA gene status? I hear some mental wheels screeching to a halt. Does my doctor know what?!

BRCA is the designation for the breast cancer gene that has received so much media attention of late, thanks in part to actresses Christina Applegate and Angelina Jolie. Like something out of a science fiction movie, the terms gene mapping, cancer suppressor, and prophylactic mastectomy raise questions and fears.

You ask, “What does all this Sci-Fi have to do with me and my feminine fabulousness? Possibly nothing at all; however, should you be one of the approximately 10 percent of all women who will be diagnosed with hereditary breast cancer, it is the cutting edge of what could keep you fabulous and protect your family’s health at the same time.

“We’ve seen such a change in our understanding of breast cancers. When I started my career, one in 11 women got breast cancer; now it’s one in eight. For female children born today, it’s going to be one in seven,” said Dr. Virginia Herrmann, local surgical oncologist specializing in breast cancers. “For a long time, breast cancer patients were all treated pretty much the same. In 1994 and 1995, scientists discovered the BRCA gene.”

Following 18 years on the faculty of St. Louis University’s medical school, Herrmann joined Washington University, where their genetics program and cancer center afforded her the opportunity to consider the genetic component in both diagnosis and treatment of patients. “It was a natural carryover,” Herrmann said of joining the Medical University of South Carolina, where she continues her work combining genetics with cancer surgery and treatment.

So just what is the BRCA gene? “Everybody has the BRCA gene. It’s really a cancer suppressor gene—we have lots of cancer suppressor genes,” Herrmann explained. “When the BRCA gene has a break or mutation, it doesn’t function properly, so it increases your risk for breast and other cancers.”

A mutation in the BRCA1 or BRCA2 gene increases the risk of breast cancer to about 87 percent and increases the risk of ovarian cancer between 27 and 40 percent. Further, breaks in the BRCA1 gene may manifest in early onset, more aggressive, harder to treat breast and ovarian cancer, while breaks in the BRCA2 gene are associated with male and female breast cancer, melanoma, melanoma of the eye, pancreatic cancer, and prostate cancer.

Herrmann explains that the BRCA gene mutations are passed on equally to males and females; if either parent has the gene, the likelihood of passing it on is 50/50. The main reason the focus has been on breast cancer is that “women are more likely to get breast cancer due to the estrogen in their bodies,” she said.

With a basic knowledge of the BRCA1 and BRCA2 gene, it would seem like a no-brainer to visit your doctor and ask for the test to determine if you have the anomaly. Not so fast. Digging into your genetic fingerprints and learning what they mean for the future of your life—the one that may have been going along rather fantastically—has significant implications for both you and your loved ones. It is not to be taken lightly or without professional guidance.

“We consider it wrong to do genetic testing without some counseling initially,” Herrmann said. “If the test is positive, I tell the patient that this is a gift, because now you have an insight into what you can prevent, and you can increase surveillance for you and your family members. If the test is negative, you may still have a gene; it’s just not one of these two genes.” In addition to genetic counseling, a history of family cancers is mapped to assess the possibility of cancers being hereditary versus sporadic where there is little or no family history.

Once a patient has been counseled and has tested positive, the real decision-making begins. The options may include prophylactic surgery, a long-term course of medication, or surveillance.

BRCA2-positive Beaufort resident Becky Woods had a long and detailed family history of cancers that helped make her decisions relatively straightforward. Cancer of the breast, colon, prostate, and bone has touched the lives of or ended the lives of at least 10 of her family members. As a wife of 17 years and mother to two boys, ages 11 and 8, these were the driving forces behind her decision to have a prophylactic hysterectomy in October 2011, followed by a prophylactic mastectomy and breast reconstruction beginning in January 2011.

“As soon as I got the result, I saw Dr. Herrmann and we got the ball rolling. She was the one who wanted me to have the hysterectomy first. It’s just so hard to detect ovarian cancer. I had a little more time with the breast than the ovaries, so let’s just nip that one in the bud first,” Woods said. Despite the inevitability of her decision, it was never a simple or easy road; however, she had a great deal of support along the way. “You hear people say that they are afraid to find out. With my family history, I was never afraid. I just wanted to know. I felt like I needed to know,” she said, adding that her husband and family were supportive throughout the entire journey.

Joining FORCE (Facing Our Risk of Cancer Empowerment), a nonprofit related to supporting people and affected by hereditary breast and ovarian cancer, has been a source of empowerment for Woods. FORCE was instrumental in the June 2013 Supreme Court decision prohibiting patents on naturally occurring human genes. Woods knew this meant that genetic testing would be more widely available and would encourage research.

“It helps our children and our children’s children by knowing that one day cancer is going to be eliminated,” Woods said. FORCE also provides opportunities to participate in studies and research, and Woods’ DNA is part of a database available for research as well. “If researchers have their way, cancer will be a thing of the past,” she said.

Taking ahold of your future and protecting it with all the science and medicine available may not sound demure or feminine. However, facing your own genetic lottery and taking the bull by the horns and wrestling him to the ground before he has a chance to pin you down sounds like a whole lot of fabulous girl power.

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