Canyon View Medical Logo - Color

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.

References

American Cancer Society (ACS). (2019). Breast cancer survival rateshttps://www.cancer.org/cancer/breast-cancer/understanding-a-breast-cancer-diagnosis/breast-cancer-survival-rates.html 

American Cancer Society (ACS). (2019). Breast cancer risk factors you cannot changehttps://www.cancer.org/cancer/breast-cancer/risk-and-prevention/breast-cancer-risk-factors-you-cannot-change.html 

Centers for Disease Control and Prevention (CDC). (2020). What is epigenetics? https://www.cdc.gov/genomics/disease/epigenetics.htm 

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. https://doi.org/10.1155/2020/9873954 

National Breast Cancer Foundation (NBCF). (2021). BRCA: The breast cancer gene. https://www.nationalbreastcancer.org/what-is-brca 

U.S. Preventive Services Task Force (USPSTF). (2019, August 20). BRCA-related cancer: Risk assessment, genetic counseling, and genetic testing. https://www.uspreventiveservicestaskforce.org/uspstf/recommendation/brca-related-cancer-risk-assessment-genetic-counseling-and-genetic-testing 

Breast Cancer Screening Facts (Part 1)

Breast cancer is the most common form of cancer among women, with the exception of skin cancer. Find out how much early detection can impact a person’s chance of survival. Watch “Breast Cancer Screening Facts (Part 1)” to learn more.

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.

Does taking the birth control pill increase the risk of breast cancer?

Hormonal birth control or “the pill” has been used for more than half a century to help prevent pregnancy and help couples plan when they want to have children. It is also highly effective in treating painful, heavy or irregular bleeding and is therefore prescribed frequently for problems associated with menstrual cycles. Hormonal contraception prevents ovarian, uterine and colon cancers and osteoporosis in women.

Like all medications and over-the-counter supplements, there are potential adverse effects. The most serious side effects of using hormones are experiencing a blood clot, a slight increase risk of liver cancer or a possible increase in breast cancer risk. Shared decision making between individual women and the provider as to the benefits and risks and expected outcomes regarding hormonal contraception should be addressed at the initiation of therapy, regardless of whether it is being used for pregnancy prevention or cycle control.

Does taking the birth control pill increase the risk of breast cancer?

The short answer is…..maybe. However, the overall risk of cancer remains very low and hormonal contraception decreases the risk of other types of cancers (uterine, ovarian and colon).

A recently published study in the New England Journal of Medicine (December 2017) may link hormonal contraception to breast cancer.  It is a large study that spanned over more than a decade comparing women in Denmark who used hormonal contraception (the pill, mini-pill, patch, NuvaRing, and progestin-containing IUD) and the risk of acquiring breast cancer compared to women who did not use hormonal contraception. The take-home points of this retrospective, observational trial are:

  1. Women who use hormonal birth control methods may have a small increased risk of breast cancer, but the overall risk remains very low. This is similar to findings in several other studies.  This means that one more woman out of every 7,690 hormone users will develop breast cancer.  For women younger than age 35, this risk is much less; one more woman per 50,000.
  1. The overall risk of cancer may be slightly lower in hormonal contraceptive users because hormones decrease the risk of ovarian, uterine (endometrial) and colon cancers.
  1. Further investigation of progestin-only formulations (the shot, mini pill or certain IUDs) is necessary. It was difficult to systematically analyze the data because of the various dose and duration of the hormones used in the Danish study.
  1. The risk of death during pregnancy is twice as high as the risk of developing breast cancer because of hormonal contraception. In 2015, about 26 out of 100,000 women died during pregnancy. There were 13 more women out of 100,000 who developed breast cancer in the hormone group compared to those who didn’t use hormonal contraception.
  1. The quality of the study should be considered when evaluating any type of research. Randomized controlled trials (RCT) are considered the “gold standard” because they follow the most scientifically rigorous method of testing a theory.  Cost, logistics and ethical considerations need to be considered when doing research and may make it impossible to design an RCT. The Danish study was a retrospective, observational trial whichmeans the data, conclusions, and generalizations to larger populations may require further investigation.

Some limitations of the Danish trial specifically that may affect the interpretation of the results include:  not accounting for breastfeeding history, alcohol consumption or physical activity.  The participants were from a northern European population, hence findings may or may not be generalized to other populations of women.

  1. Many factors are associated with the risk of developing breast cancer. Modifiable risk factors should be addressed by every  Risk factors for developing breast cancer include:

overweight/obesity
sex & race
age
family & personal history
genetics
pregnancy & breastfeeding history
menstrual history & hormone replacement therapy
decreased physical activity
alcohol & smoking
dense breast tissue

  1. Self-breast awareness, clinical breast examinations, and screening mammograms are essential in detecting breast cancer early so effective treatment can be initiated.

Hormonal contraception for many women is the safest and effective way of preventing pregnancy and regulating hormones when this is necessary.  Other non-hormonal methods of contraception are available for those who are concerned about the risk.  A discussion regarding current and accurate information on the effectiveness of hormones, the expected outcome, and individual risk will help women make the best decision for them.

RESOURCES:

http://www.breastcancer.org/risk/factors

https://www.acog.org/Clinical-Guidance-and-Publications/Practice-Advisories/Practice-Advisory-Hormonal-Contraception-and-Risk-of-Breast-Cancer

https://www.nih.gov/about-nih/what-we-do/science-health-public-trust/perspectives/understanding-clinical-studies

http://guides.mclibrary.duke.edu/ebmtutorial/study-types

https://canyonviewwomenscare.com/services/contraceptive-care/
https://canyonviewwomenscare.com/services/breast-care/

The Facts About Breast Cancer

October is breast cancer awareness month! Let’s start with a few facts about breast cancer.

  • Breast cancer is the most frequently diagnosed cancer in the United States and the second most common cause of cancer death in women.
  • Breast cancer is the leading cause of death in the United States in women ages 40-49.
  • As a woman, your lifetime risk of developing breast cancer is approximately 1 in 8.

Fortunately, breast cancer survival rates are improved by early detection. This isn’t the case with every type of cancer, but we know that breast cancer screening (usually meaning mammography) saves lives. There is disagreement among experts about what age screening should begin, and how often it should be done. Here is a comparison chart of recommendations from several professional organizations:

One reason that there is controversy over whether to do mammograms before age 50 is that there are many false-positive findings (visible abnormalities that don’t turn out to be cancer). For any abnormal finding on a mammogram, the younger the woman is, the more likely it is to be a false positive, and the older the woman is, the more likely it is to be cancerous. False positives require additional testing and can be a source of anxiety and stress. However, some women do develop breast cancer in their 40s or even younger.

The above recommendations are for women at average risk of breast cancer. Some women are at increased risk based on genetics and family history, and they should consider additional testing or more aggressive screening. In recent years, genetic tests have become available 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, multiple breast cancers in the same woman, or both breast and ovarian cancer in the same woman or family.

The best way to determine if a family carries one of the BRCA genes is to do genetic testing on an individual who has already been diagnosed with ovarian cancer, or breast cancer before age 50. If a mutation is found, other family members can subsequently be tested. 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.

BRCA testing can be coordinated through your health care provider, or testing is increasingly available at a low cost to interested individuals, through sites such as color.com. Testing can be as simple as ordering a kit and submitting a saliva sample through the mail. An important part of testing is genetic counseling, which refers to scientific advice about how your specific results relate to your family history and your individual risk. This counseling should be included with any genetic test that you order or purchase.

I hope you find this information useful in developing your personal cancer prevention plan. We encourage you to discuss your plan for screening with your health care provider at a wellness visit, in order to determine a plan that best fits your situation.

Canyon-View_Provider-Haley-PLEDGER
providers
Haley Pledger, PA
801-465-2559
Women’s Care
page
Matthew Walton, DO
Canyon-View_Provider-Austin_BILLS
providers
Austin Bills, DO
801-798-7301
Family Medicine
Canyon-View_Provider-Aaron-FAUSETT
providers
Aaron Fausett, PA
801-465-9820
Family Medicine
Load more results