Health & Medicine

Some women can determine cancer risk through genetic testing

Elizabeth Reilly
Elizabeth Reilly

Women’s cancers, including breast and ovarian cancer, affect more than 320,000 women each year. About one in eight women will experience breast cancer during their lifetime, and an estimated one in 75 women will develop ovarian cancer. A woman’s risk for these cancers increases if she has a family history.

However, women with a family history can now determine their risk for these cancers through genetic testing.

Some women inherit altered versions of genes which can increase their risk for developing breast and ovarian cancer. Some of the most well-known are the BRCA1, BRCA2 and PALB2 genes. BRCA1 and BRCA2 produce tumor-suppressing proteins and work with PALB2 to help ensure the stability of the cell’s genetic material. Thus, when these genes are not working properly, cells are more likely to develop genetic alterations that can lead to cancer.

In a family that may carry a hereditary cancer gene mutation, ideally the family member who has breast or ovarian cancer at the youngest age should have the gene test first. If they’re not found to have the gene mutation, then other family members likely won’t benefit from testing. If the ideal family member is not available, testing can still be done for other family members.

The first step in the genetic testing process is to meet with a genetic counselor. A genetic counselor can help you to determine whether it is appropriate for you to receive testing, and will discuss the potential risks, limitations and benefits. The counselor will take a detailed family and medical history, assess your risk of developing cancer, discuss the risks and benefits of genetic testing, and outline your options.

Genetic testing for breast and ovarian cancer is a simple process. Your genetic counselor or physician will collect a blood or saliva sample and send it to a lab for testing. During testing, potentially risky genes are separated from the rest of your DNA and scanned for abnormalities.

There are no medical risks associated with genetic testing, other than the slight risks associated with having your blood drawn, such as lightheadedness, and temporary bruising or fatigue. However, patients should be aware that genetic testing may have a psychological impact.

Depending on the test results, some patients may experience anxiety, anger, sadness or depression. Those who have an inherited gene mutation may feel a sense of inevitability, like they will definitely get cancer, which is not necessarily the case. Some may face difficult decisions about preventive measures and what to do next. Your genetic counselor can help you process these feelings, and make cancer screening and prevention decisions.

If you have a family history of breast or ovarian cancer, it may be time to talk to your primary care provider about a referral to a genetic counselor. Weigh the risks and rewards of testing, and decide if it is right for you. It could give you the insight that you need to protect yourself from cancer.

Elizabeth Reilly is a certified genetic counselor with KentuckyOne Health.