Breast Cancer Genes

BRA1, BRA2, PTEN and TP53

Every day, breast cancer scientists and researchers learn more about genes linked to breast cancer. Hereditary breast cancer accounts for 5% to 10% of all breast cancer cases.

Some breast cancer genes include:

  • BRCA1 and BRCA2 genes: These are tumor suppressor genes that usually have the job of controlling cell growth and cell death. Changes to their structure may cause cancer tumors to grow. Most cases of hereditary breast cancer are linked to this gene. They contribute to others types of cancer, especially ovarian cancer.
  • PTEN gene: This gene helps control cell growth and death. Damage to this gene creates a higher risk for both cancerous and noncancerous breast tumors. It can also lead to tumors in the thyroid, digestive tract, endometrium, and ovaries, often at a young age.
  • TP53 gene: This gene tells cells to make a protein called p53, which helps stop the growth of abnormal cells. Changes in TP53 cause an increased risk of breast cancer, leukemia, brain tumors, and childhood sarcomas. Less than 1% of all breast cancer is thought to be related to this gene.

What are your risk factors?

Talk with your health care provider about your breast cancer risk factors and what you can do about them. Tools can be used to help estimate your risk, allowing you to set up a personalized prevention and screening plan.

Find a physician to discuss your breast cancer risk factors or recommend a genetic counselor.

Should You Have Genetic Testing for Breast Cancer?

Genetic testing for cancer should strongly be considered in people with all of the following:

  • A personal or family history that suggests a hereditary cancer syndrome is present, such as:
    • Cancers have been found at unusually young ages
    • Several close relatives who have had the same kind of cancer
    • One person has had multiple types of cancer
    • Cancer has been diagnosed in both organs when organs are found in pairs, such as both breasts or both kidneys
    • There's evidence of other birth defects that are linked to certain cancer syndromes
    • Other family members have been tested and have genetic mutations that are linked to cancer
    • A genetic test is available and has been proven to be accurate
    • The results of testing can help the person make decisions about medical care

If you are considering genetic testing, talk to a professional about it. It's important to understand the limitations of genetic testing and how the test results might be used before testing. You also need to discuss the costs and whether your health insurance will help pay for testing.

Getting tested can result in complex, emotional issues. If you test positive, you may face difficult decisions about treatments to prevent cancer. You may have increased fear and anxiety about developing cancer. You may have concerns about losing your health insurance coverage. If you test negative, you may also face difficult challenges, such as survivor guilt, if other family members have tested positive.

However, if you are anxious or considering treatments such as preventive surgery based on your family history, having the results may be empowering. Because of these issues, you should seek genetic counseling before, during, and after any genetic testing. Our genetic counselors can talk with you about what a particular test will or will not tell you, and give you insights into the testing process.