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Breast Cancer Risk and Epigenetic BRCA Markers

Chances are you know someone who has been affected by breast cancer. For one out of every eight women, the risk of being diagnosed with it is relatively high. Hereditary breast cancers are only responsible for 5 to 10 percent of breast cancer cases. However, there is a significantly higher risk for women who have the BRCA1 BRCA2 genetic markers. 

Epigenetics is the study of how the environment and your behaviors can affect gene expression. The DNA sequence is not altered, but epigenetic changes affect how the body reads your DNA and determines health outcomes. 

Consulting with a genetic counselor or doing a genetic screening test is beneficial for at-risk individuals. These women have a family history that includes one of the conditions below.  

One (or more) first– or second-degree relative(s) with:

  • Breast cancer diagnosed at age 45 or younger in women
  • Triple-negative breast cancer diagnosed at age 60 or younger in women
  • Primary cancer of both breasts
  • Both breast and ovarian cancer in the same relative
  • Male breast cancer
  • Ovarian cancer
  • Two or more first– or second-degree relatives from the same side of the family with breast cancer, if at least one breast cancer was diagnosed before age 50.
  • Three or more first– or second-degree relatives from the same side of the family with breast or high-grade prostate cancer at any age.
  • Ashkenazi Jew Ancestry

BRCA1 and BRCA2 are examples of epigenetic changes that have significant consequences. BRCA genes are tumor suppressor genes that help combat breast cancer by making proteins to repair damaged DNA. These tumor-suppressing genes do not work correctly for women who have the BRCA1 or BRCA2 genetic marker. These women should be counseled appropriately regarding increased breast surveillance (clinical examinations and imaging/mammograms), starting a family, and possibly undergoing prophylactic surgery to decrease the risk of breast cancer.

Talk to your provider about your family history and potential genetic risk. Do not be fearful, be hopeful. Breast cancer is very treatable, mainly when it is discovered early and treated appropriately. On average, mammograms detect cancer two to three years before a lump is felt. Mammograms are usually covered 100 percent by insurance companies, and there is no copay on your part. If you do not have the means to have a screening mammogram done, contact the Utah County Health Department, as they may help cover the cost of this service. Please complete routine screening examinations and mammograms as recommended for your age and level of risk.


American Cancer Society (ACS). (2019). Breast cancer survival rates 

American Cancer Society (ACS). (2019). Breast cancer risk factors you cannot change 

Centers for Disease Control and Prevention (CDC). (2020). What is epigenetics? 

Dullens, B., de Putter, R., Lambertini, M., Toss, A., Han, S., Van Nieuwenhuysen, E., Van Gorp, T., Vanderstichele, A., Van Ongeval, C., Keupers, M., Prevos, R., Celis, V., Dekervel, J., Everaerts, W., Wildiers, H., Nevelsteen, I., Neven, P., Timmerman, D., Smeets, A., Denayer, E., … Punie, K. (2020). Cancer Surveillance in Healthy Carriers of Germline Pathogenic Variants in BRCA1/2: A Review of Secondary Prevention Guidelines. Journal of oncology2020, 9873954. 

National Breast Cancer Foundation (NBCF). (2021). BRCA: The breast cancer gene. 

U.S. Preventive Services Task Force (USPSTF). (2019, August 20). BRCA-related cancer: Risk assessment, genetic counseling, and genetic testing. 

Breast Cancer Awareness

Did You Know?

  • A woman’s risk of developing breast cancer is approximately 1 in 8.
  • Breast cancer is the leading cause of death in the United States in women ages 40-49
  • Breast cancer is the most frequently diagnosed cancer in the United States and the second most common cause of cancer death in women.

Fortunately, breast cancer survival rates are improving. The reason for increasing survival rates are:

  • Increased awareness in women for the need for breast cancer screening.
  • Mammograms have become more accessible and continually get better at finding developing cancers earlier.
  • New and better treatments for breast cancer continue to be developed

When should women have a mammogram?

Here are some recommendations from several professional organizations:

These recommendations are for women with average risk of breast cancer. If you have a family history of breast cancer in a first degree relative such as: mother, or sister or second degree grandmother or aunt discuss the need for mammograms and when to start with your doctor.

There are genetic tests that can identify increased familial risk for breast and ovarian cancer, both of which are affected by genes called BRCA1 and BRCA2. However, it’s important to note that only about 5-10% of breast cancer cases overall are related to one of these genes. Abnormal BRCA genes are more likely to be found in situations such as: breast cancer before age 50, breast cancer in males, recurrent or bilateral breast cancer in the same women and multiple breast cancers on the same side of the family. If you are an individual who has not been affected by breast cancer, but is concerned about your family history, you are less likely to find that you carry an abnormal gene, but can still be tested if you desire. The test can be expensive – between $4,500 and $6,000. Talk to your provider or genetic counselor about the pros and cons of genetic testing.

Many women who are susceptible to developing cancer have discovered this by having their yearly mammogram. This can alert family members to increased risk of breast cancer and potentially save the lives of their loved ones.

For breast cancer awareness month, we encourage you to discuss your need for breast cancer screening with your health care provider.

Haley Pledger, PA
Women’s Care
Matthew Walton, DO
Austin Bills, DO
Family Medicine
Aaron Fausett, PA
Family Medicine
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