Uncovering potential hidden threats

A father’s nose. A mother’s almond-shaped eyes. A grandmother’s curly brown hair. An uncle’s dimple on the left cheek.

Everyone is born with genes that they inherited from their mother and father. These genes determine an individual’s physical traits. What many don’t realize is that genes are also responsible for the increased risk associated with developing certain illnesses, such as anemia, cystic fibrosis, cancer and more.

MASTER COPY
Each cell in the human body consists of 25,000 to 35,000 genes. Every gene is encrypted with a set of instructions, or code, for a particular protein or function. When genes mutate, or change, it may cause problems. These altered genes may be passed down from generation to generation, making someone more vulnerable to health problems.

Although a number of harmful gene mutations are known to exist, they’re relatively rare in the general population. The most common of these involve the BRCA1 and BRCA2 genes, which are known to predispose patients to breast cancer, as well as ovarian and other cancers. These two mutations account for about 20-to-25 percent of hereditary breast cancers and about 5-to-10 percent of all breast cancers. Patients who are diagnosed with breast cancer before age 50, have cancer in both breasts, or have both breast and ovarian cancer in their family history are often tested for mutations of BRCA1 and BRCA2.

“Patients need to realize that just because they have the BRCA 1 and BRCA 2 gene, it doesn’t automatically mean they will get breast cancer,” explains Jane Kakkis, M.D., medical director of breast surgery at Orange Coast Medical Center. “It simply means that they are at an increased risk, and they have choices when it comes to prevention.”

PLOTTING THE FUTURE

The MemorialCare Cancer Institute at Orange Coast Medical Center is committed to patients in their cancer journey, at all stages. Through screening, early detection and state-of-the-art treatment protocols, our compassionate cancer specialists provide advanced care that promotes a cure.

As part of the comprehensive cancer services, the Institute offers genetic counseling and testing. For trained cancer genetic counselor, Rebecca Haskins, M.S., she believes in using a patient’s genes to understand more about their health future.

When a new patient is seated across from her, Rebecca sees history – not just the medical history of the patient, but of the patient’s entire family. Based upon the patient’s familial profile, Rebecca may recommend genetic testing.

“Personal and family history are strong predictors of cancer risk as well as other factors such as a cancer diagnosis at a young age or if several different cancers occur in the same person,” explains Rebecca. “Knowledge is power. Genetic counseling allows patients to make informed decisions that might help prevent future cancers.”

Testing is simple and noninvasive. Genetic material, or DNA, is collected through blood or saliva and results take one to three weeks. It is at this point that Rebecca discusses the results with the patient in detail.

Today, with a growing national shift toward double mastectomies, more women find themselves taking control of their health in preventing breast cancer.

“Genetic testing and the treatment plan that follows is highly individualized,” says Dr. Kakkis. “If we discover a genetic mutation in a cancer patient, it may impact their course of treatment, as well as our recommendations for future risk reduction. If an individual does not have cancer, but does have a mutation, we will definitely discuss their options because the important thing is for them to know that they do have options.”

For more information about genetic testing and services offered at Orange Coast Medical Center, please visit our cancer care site, or plan to attend our event about about pre-cancer planning and treatment options: Register Now.