10 Facts About BRCA Gene Mutations

Health Writer
View as:|
1 of 11
Next
iStock

Hereditary breast and ovarian cancer have been associated with mutations in two genes, BRCA1 and BRCA2. Although you can develop either cancer with a normal BRCA gene, it’s helpful to know the factors and additional risks if you or someone in your family has a BRCA mutation.


iStock

The role of BRCA genes

Everyone is born with BRCA1 and BRCA2 genes. The gene type gets its name from being recognized as the “BReast CAncer” susceptibility gene. When they're normal, these genes help repair DNA and regulate cell growth, which prevents tumors from growing.


iStock

What BRCA mutations do

When BRCA genes mutate, they don’t work as they should, and this raises the risk of cancer. Mutations are inherited from one or both parents, and both men and women can have them. Ashkenazi Jewish heritage tends to increase risk that these gene mutations will occur, but they can happen in a person of any ethnicity or race.


iStock

BRCA genes aren't just about breast cancer

Mutations in BRCA genes are associated with breast cancer, but these mutations have also been linked to ovarian, prostate, peritoneal, fallopian tube, and pancreatic cancer. That doesn’t mean you’re guaranteed to develop cancer if you have these gene mutations, but it does mean you’re more susceptible than someone without the mutations.


iStock

Testing for BRCA mutations

BRCA gene mutations are uncommon. For instance, in the United States, only 5 to 10 percent of breast cancers are related to these gene mutations. The way to find out if you have a mutation is to have a blood test. Your DNA is analyzed to isolate and examine both BRCA1 and BRCA2 genes to see if they are mutated.


iStock

Who should be tested for BRCA?

This isn’t a standard screening — BRCA testing is suggested only for those who are likely to have an inherited mutation based on personal or family history. For example, if you’ve had breast cancer or ovarian cancer, or your mother has had one or both of those cancers, your doctor may suggest the test.


iStock

Elevated risk levels: breast cancer

If you have a BRCA mutation, your cancer risk is higher, especially for breast and ovarian cancer. An estimated 72 percent of women with gene mutations in BRCA1 and 69 percent of women with BRCA2 will develop cancer by age 80. In contrast, 12 percent of women in the general population will develop that type of cancer.


iStock

Elevated risk levels: ovarian cancer

With a BRCA mutation, your ovarian cancer risk is also higher. For example, the lifetime ovarian cancer risk for women with a BRCA1 mutation is estimated to be between 35 and 70 percent. With the BRCA2 mutation, risk is between 10 and 30 percent. With no mutation, a woman's lifetime risk is less than 2 percent for ovarian cancer.


iStock

Next steps: genetic counseling

If you test positive for a BRCA gene mutation, the next step is usually genetic counseling and talking with your doctor about possible treatment options. This can help you decide if other family members should be tested, and whether you need more frequent cancer screening. If you already have cancer, you may want to consider treatments that have been developed specifically for people with these mutations.


iStock

Surgery to lower cancer risk

More frequent screening can increase the chance that breast and ovarian cancer are detected early, which greatly improves survival rates. But some people prefer to bring their risk down through preventive (also called prophylactic) surgery. This option involves a double mastectomy and/or ovary removal — a strategy that gained attention when actress Angelina Jolie had both surgeries after learning she carried a BRCA gene mutation. These surgeries lower cancer risk by about 90 percent.


iStock

Making optimal testing and treatment choices

Deciding whether you should get tested for BRCA mutations, and what to do if you get a mutation-positive result, can be stressful. But talking with a genetic counselor and your doctor can help you understand your options and risk factors, so you can make the choices that feel right for you.