Dr. Mark Roh

About 3% of breast and 10% of ovarian cancers result from inherited mutations in the BRCA1 and BRCA2 genes.

According to the Centers for Disease Control and Prevention (CDC), breast cancer represents about 7,500 women who have inherited mutations in the BRCA1 and BRCA2 genes annually. For ovarian cancers, this amounts to about 2,000 women per year.

A genetic blood test called the BRCA gene test can help determine if a patient has an inherited mutation. When mutations in those genes develop, there’s an increased risk of breast, ovarian, and other cancers. BRCA stands for BReast CAncer gene.

A positive or negative result can help determine a patient’s needs and health management. The BRCA gene test can also help patients better understand their health. To learn more or to schedule an appointment with your physician, please visit leehealth.org.

What is an inherited gene mutation?

Some people have changes in the blueprint of a gene, which are known as mutations. Some gene variants explain differences in people’s hair or eye color, while others can lead to a disease or increase the risk of illness.

An inherited gene mutation can be passed on to the next generation. According to the CDC, all women have BRCA1 and BRCA2 genes, but only some have mutations. About one in every 500 women in the United States has a mutation in her BRCA1 or BRCA2 gene. It’s also possible to have a mutation in both BRCA genes.

It typically takes more than one gene mutation to become a cancer cell. But when someone inherits an abnormal gene copy, their cells start out with one mutation. This makes it easier for other mutations to happen, which can lead to a cell becoming a cancer cell.

Your doctor might suggest testing using a multigene panel, which simultaneously looks for mutations in several genes, including BRCA1 and BRCA2.

A positive result does not diagnose any disease; it tells you if you carry the gene mutation that increases your risk. A negative BRCA test doesn’t guarantee you will not get cancer. It means your risk is likely the same as the general population.

Who should get a BRCA gene test?

Those with a family history of either breast, ovarian, or both cancers are premier candidates for the gene test.

If you meet any of these specifications, it’s recommended to get a BRCA gene test:

• A personal history of breast cancer diagnosed before age 45

• A personal history of triple-negative breast cancer diagnosed at 60 or younger

• A personal history of two or more types of cancer

• A personal history of breast cancer diagnosed before 50 and second primary breast cancer, one or more relatives with breast cancer, or an unknown or limited family medical history

• A personal history of male breast cancer

• A personal history of ovarian cancer

• A personal history of breast cancer and one or more relatives with breast cancer diagnosed before age 50, two or more relatives diagnosed with breast cancer at any age, one or more relatives with ovarian cancer, one or more relatives with male breast cancer, or two or more relatives with prostate cancer or pancreatic cancer

• A personal history of prostate cancer or pancreatic cancer with two or more relatives with BRCA-associated cancers

• A history of breast cancer at a young age in two or more blood relatives, such as your parents, siblings, or children

• A personal history of breast cancer and Ashkenazi (Eastern European) Jewish ancestry

• A relative with a known BRCA1 or BRCA2 mutation

One or more relatives with a history of cancer that would meet any of these criteria for gene testing

If you think you’re a candidate for the BRCA test or want more information, make an appointment with your physician by visiting leehealth.org.

What can you expect from a BRCA gene test?

The BRCA gene test is like any other blood test. A lab analyzes the results, and a physician will review them.

Many people who get the BRCA gene test also work with a genetic counselor. Those who test positive may feel various emotions, including sadness, anxiety, or anger. A genetic counselor can help you work through all of that.

A genetic counselor is well-trained in helping patients deal with the results of a genetic test, offering options for management and ways to cope.

Dr. Mark Roh is chief physician executive of oncology services at Lee Health.