The “Breast Cancer” Genes: BRCA1 and BRCA2 Gene Mutations

Home » Women's Health News » The “Breast Cancer” Genes: BRCA1 and BRCA2 Gene Mutations

Breast cancer and ovarian cancer can be caused by a number of different factors. Most women who get cancer don’t have a family history of the disease, but sometimes cancer will run in families. Known as hereditary or familial cancer, these types of cancer are caused by changes, or mutations, in genes that pass from parent to child. The most common mutations linked to breast or ovarian cancer are in the BRCA1 and BRCA2 genes. Mutations in these genes increase your risk of getting cancer, but if you have the gene mutation, that doesn’t mean you will develop cancer.

What are the BRCA1 and BRCA2 Genes?

Everyone has the BRCA1 and BRCA2 genes. They are called tumor suppressor genes and keep cells in your body from growing too quickly. Mutations in these genes mean they don’t work properly. That can cause cells in your body to grow out of control, which can lead to cancer.

About 1 in 300 people have a mutation in the BRCA1 gene and about 1 in 800 have a mutation in BRCA2. Anyone can have these mutations, but they tend to be found more often in people who have Eastern or Central European Jewish, French Canadian, and Icelandic backgrounds.

What is My Cancer Risk?

All women are at risk of getting breast cancer or ovarian cancer. The risk of getting breast cancer at some point in her lifetime for the average woman is about 12%. Having a BRCA mutation increases that risk to about 45 to 85% by age 70. The BRCA mutation also increases your risk of developing cancer of the ovary, fallopian tube, peritoneum, pancreas, and skin (melanoma).

Getting Tested for BRCA Gene Mutations

We typically recommend women have a test for BRCA1 and BRCA2 mutations if they are in a high-risk group. The questions your doctor might ask you to make that determination may be if you:

  • Have or had breast or ovarian cancer
  • Have or had ovarian cancer and have a close relative (parent, sibling, child, grandparent, grandchild, uncle, aunt, nephew, niece, or first cousin) with ovarian cancer, breast cancer, or both
  • Have or had ovarian cancer and are of Eastern or Central European Jewish ancestry
  • Were diagnosed with breast cancer at age 50 or younger and have a close relative with ovarian cancer or breast cancer
  • Were diagnosed with breast cancer at age 40 or younger and you are of Eastern or Central European Jewish ancestry
  • Have a close relative with a BRCA1 or BRCA2 mutation

While BRCA1 and BRCA2 are the most common genetic mutations associated with hereditary cancer, there are other mutations that can increase your risk of cancer. If your doctor recommends genetic testing, he or she may recommend testing that includes looking for other genetic mutations as well.

Testing Positive

Once you are tested, a positive result would mean you have the genetic mutation. A negative result would mean that your risk of getting cancer would be the same as the general population. Other members of your family may have the BRCA1 or BRCA2 mutation, but a negative result would mean you didn’t inherit it.

If you have a BRCA mutation, which puts you at a higher risk of getting cancer, there are several cancer-prevention strategies available to you that you might want to discuss with your doctor.

Breast cancer screenings:

  • Clinical breast exam every 6-12 months
  • Annual breast imaging beginning at age 25, including getting an MRI and mammogram

Ovarian cancer screenings:

  • A blood test for a cancer cell marker called CA 125, which may be present in women with ovarian cancer
  • Ultrasound examinations of your ovaries


  • Chemoprevention drugs such as Tamoxifen, which has been shown to reduce the risk of breast cancer in women with BRCA2 mutations
  • Combined hormonal birth control pills (with both estrogen and progestin) that may reduce the risk of ovarian cancer

Risk-reducing surgery:

  • Bi-lateral mastectomy (removing both breasts)
  • Removal of both ovaries and fallopian tubes

If you test positive for a hereditary gene mutation, you may also want to share that information with your family members. Your blood relatives – parents, siblings, children – would also be at risk of having the mutation as well.

Talk to Your Doctor

If you have any questions or concerns about your chance of having a genetic mutation that would increase your risk of developing cancer, talk to your doctor. He or she can offer options to help you take the best care of your health.


Source: American College of Obstetricians and Gynecologists

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