Nancy Sklencar feels she made one of the best decisions in her life. When she learned she could possibly help her nieces avoid breast cancer with the results of a specified blood test, she knew she had to do it.“I wanted them to have the choices for their future that I did not have,” Nancy says. Nancy was young when doctors diagnosed her breast cancer – 36. Statistically, women in the general population develop breast cancer after age 40, which is why the American Cancer Society (ACS) recommends women start annual mammograms at age 40. Nancy’s personal history of cancer at an early age, along with her extensive family history of breast cancer, raised a red flag that her cancer may have been caused by an underlying genetic predisposition.
So Nancy chose to undergo genetic testing through The Cancer Genetics Program at The Cancer Institute of New Jersey (CINJ) at Cooper. The testing looked at the BRCA1 and BRCA2 genes, which are two of the genes that have been associated with hereditary breast cancer. Her results determined she carries a change, or mutation, in the BRCA2 gene, which is known to cause an increased risk to develop breast cancer.
Genes are the body’s instruction manuals and the blueprints for our physical traits like hair color and eye color and our personality traits which make us who we are. But in some individuals, mutations in certain genes can lead to an increased risk for a number of diseases, including cancer. Genetic testing helps identify individuals at increased risk for cancer and can help them make more informed decisions.
This information is valuable in so many ways. So Cooper’s Cancer Genetics Program provides a comprehensive range of services – risk assessment and genetic education, as well as recommendations for screening, risk reduction measures and prevention options to people at high risk for or who have been diagnosed with cancer.
“Knowing your risk allows us to help you and your family members start reducing that risk,” says certified genetic counselor Dana Farengo Clark, M.S., who is part of a genetics team led by medical oncologist Generosa Grana, M.D., F.A.C.P. Dr. Grana is Director of the Cancer Genetics Program, Director of CINJ at Cooper, and an Associate Professor of Medicine at the University of Medicine and Dentistry of New Jersey, Robert Wood Johnson Medical School.
For some people, hearing that cancer is running in their family can be difficult. However, Dana prepares people like Nancy for the results, explains the challenges and suggests ways in which this information can be shared with family.
“From the very first minute I met with Dana, I was comfortable telling her anything and everything. Her knowledge of and help with genetic testing changed my life. I had real answers about my genetic risks and my future recovery,” Nancy says.
Genetic testing can also alert women who were already diagnosed with breast cancer to their increased risk for ovarian, pancreatic and other cancers, as well as melanoma.
Nancy’s older sister and paternal aunt — both of whom had breast cancer several years earlier — carry the same BRCA2 mutation that Nancy was found to carry. Due to a large number of women diagnosed with breast cancer, Nancy’s family believes the gene mutation has been passed down through their father’s side, although he has not yet been tested.
This knowledge can help someone like Nancy make proactive health care decisions such as having cancer screenings at earlier ages and more often. She opted for a prophylactic left breast mastectomy as a preventative measure after a right breast mastectomy to help treat her cancer. Women who carry a mutation have a 50 percent to 60 percent lifetime risk of developing a second new breast cancer in the opposite breast.
Now equipped with this knowledge, Nancy’s nine nieces can decide if they want to be tested for the mutation. If they have the mutation, then they can opt for screenings earlier in life. For example, if a woman tests positive for a BRCA1 or BRCA2 mutation, the recommendation is to begin clinical breast exams with a doctor by the age of 18 and to begin mammograms by the age of 25 rather than at 40.
Women at increased risk should talk with their doctors about the benefits and limitations of starting mammograms when they are younger, having additional tests (such as a breast MRI) or having more frequent exams, according to published guidelines.
“It’s so amazing that we can be tested for a genetic mutation that can cause breast cancer. It just blows my mind. I’m just so thankful that the technology exists for finding genes that cause cancer,” Nancy says.
Since her diagnosis and subsequent mastectomy, Nancy has undergone chemotherapy and radiation at CINJ at Cooper with a team of experts. She received chemotherapy in Cooper’s Stratford office under the care of medical oncologist Eve Rodler, M.D., and radiation oncologist Samuel L. Hughes, M.D. Dr. Grana and Dana Clark have provided her genetic counseling and testing. Nancy is also part of Dana’s support group for people at genetic risk — My Genes, My Risk.
Now 37, Nancy feels strong, almost like her old self – both in mind and spirit. She is a part-time ballroom, Latin and swing instructor at The Atrium Dance Studio in Pennsauken, N.J. Throughout her ordeal, she kept dancing – a welcomed distraction. She even performed on a local cable access show.
By day she manages a law firm in Cherry Hill. Part of what she says helped her cope has been the devotion and care from her husband, Joseph, and from her friends and family who have been instrumental in her recovery.
Nancy is scheduled to have breast reconstruction surgery in January 2007 and says she will most likely undergo a prophylactic salpingo oophorectomy in the spring to prevent the chance of developing ovarian cancer. She will receive follow-up cancer screenings, first at three months, then at six months and eventually at yearly intervals.
“The things I liked about Cooper care are the ways that everyone has treated me like an equal rather than as a patient. The whole cancer process seems like more of a collaboration instead of just simply ‘treatment,’” Nancy says. “I just try to exist in the moment. I am hopeful, however, that with all of the precautions I am taking, that I will continue to do well and to have a life like anyone else’s.”
People considering testing should first meet with a professional genetic counselor. Once testing is completed, such counselors are available to help the patient and family interpret the results and help make decisions regarding prevention and/or treatment. For more information, please read the question-and-answer article in this issue of eHealth Connection. Certified Genetic Counselor Dana Farengo Clark, M.S., speaks about women’s genetic risk for breast and ovarian cancer.
To make an appointment with a Cooper physician, please call 1-800-8-COOPER (800-826-6737).