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Breast Cancer Awareness Month: How Genetic Testing Saves Lives

As we observe Breast Cancer Awareness Month during October, Dr. Bernadette Cracchiolo, director of the division of gynecologic oncology, and Dr. Adriana Suarez-Ligon, director of breast services, division of surgical oncology, are discussing diagnostic technology that could save lives.

Health care screenings help detect cancers at an early stage, or high-risk lesions that could develop into a cancer. While these tests do not prevent cancer, they can catch the disease at an early stage when treatment can effectively reduce mortality. Screening tests, such as mammography and pap smears, are done on patients without symptoms of disease based on established guidelines for average-risk patients.

Now, there is a screening test for high-risk cancer genes as well. Genes contain the maps for the functions of the body and are inherited from our parents. Some types of high-risk cancer genes are passed down and those persons are at a higher risk to develop that cancer, as are their children.

"Testing positive for a particular high-risk cancer gene does not mean that you have a cancer now or that will absolutely develop that type of cancer. It means that you are more likely than the general population to develop that cancer," Cracchiolo and Suarez-Ligon explained. "The benefits of testing are knowing your own risk of developing certain cancers and feeling empowered to consider interventions to manage or reduce that risk."

There are many strategies to manage high-risk breast and ovarian cancer genes. The simplest strategy is applicable to everyone, regardless of high-risk cancer gene status, and that is lifestyle modification: cessation of smoking, minimal alcohol consumption, exercise, and a healthy, balanced diet.

Another strategy is enhanced screening imaging, such as mammograms and MRIs for breast cancer, and pelvic ultrasounds for ovarian cancer. More frequent clinical follow-ups could also be added to your yearly cancer surveillance care.

Additionally, medications such as Tamoxifen can lower your risk of breast cancer by 50%. Surgery to prevent a future cancer could also be considered. For example, prophylactic mastectomy decreases your lifetime risk of breast cancer by up to 95% and removal of the ovaries and fallopian tubes reducing your risk of ovarian cancer by nearly 100% and your risk of breast cancer by 50%. If you have a cancer and a high-risk cancer gene, you may also qualify for treatment options, such as certain PARP inhibitors, that would otherwise not be an option.

Most cancers occur by breaks in the genes called mutations and are not inherited. Cancers that are passed down by a high-risk cancer gene can sometimes be seen in family histories that contain persons diagnosed earlier than the general population, before the age of 50 or 65, depending on the cancer, or multiple cancers in the same side of the family. It is important to know who had the cancer, at what age the cancer was diagnosed and where the cancer started. Knowing this information makes a difference, so you should understand your family history in as much detail as possible.

The reasons to undergo high-risk genetic screening are expanding. If you or any family members have been diagnosed with ovarian/fallopian/peritoneal cancer, breast cancer, endometrial/uterine cancer, colon cancer, advanced stage prostate or pancreatic cancer, you qualify for further counseling and possibly, gene testing which is done with saliva or blood.

Genetic test results are protected under HIPAA (Health Insurance Portability and Accountability Act, 1996) which protects patient privacy, and GINA (Genetic Information Nondiscrimination Act, 2008) which prohibits some types of genetic discrimination. However, these laws do not completely prevent insurance companies from using this information to determine qualification for long-term care, disability, or life insurance.

"Consider asking your health care provider about high-risk genetic testing today," the physicians added. "The more you know, the better you will be able to protect yourself and your families."