Genetics, Breast Cancer and Ovarian Cancer: Should I Be Tested for a Gene Mutation?

Published in Wellness, Imaging, Cancer Care

Undoubtedly if you own a TV, computer or smart phone, you’ve seen the news about Angelina Jolie. A BRCA1 carrier, she’s been recognized for her courageous decision to get a double mastectomy to reduce her risk of getting the same cancers that both her mom and aunt lost their cancer battles to. It’s a story we see time and time again, and now it’s making national headlines. It has brought a lot of attention to the topic of breast and ovarian cancer and genetics. It also raises the question: if breast or ovarian cancer runs in your family, should you be tested?

What is BRCA?

BRCA1 and BRCA2 are genes that are also known as breast cancer susceptibility genes. When a BRCA gene isn’t normal, it can no longer do its job to keep cells healthy, and cancer, particularly of the breast and ovaries, is much more likely to develop. Like all genes, harmful changes in BRCA1 and BRCA2 can be passed on from a mother or father to their children, but that doesn’t mean that cancer will develop.

We each have over 20,000 genes in our bodies, and BRCA1 and BRCA2 are only two of these. We continue to learn more about other genes that can contribute to cancer.

Who Should Be Tested?

Before pursuing a genetic test, it is first recommended to talk with your healthcare provider and consider meeting with a genetic counselor who will discuss your personal and family history, make management recommendations and discuss genetic testing options. Like many other cancers, family history is an indicator of your risk of inheriting breast and ovarian cancer. You may be at a higher risk of having an abnormal breast cancer gene if:

  • You have multiple blood relatives (grandmothers, mother, sisters, aunts) on either your mother or father’s side of the family who have had breast cancer, especially if diagnosed before age 50.
  • There is both breast and ovarian cancer in your family, particularly in a single individual or on one side of the family.
  • Women in your family have had cancer in both breasts.
  • A man in your family has had breast cancer.
  • You are of Ashkenazi Jewish heritage.
  • You are related to someone who has a known BRCA1 or BRCA2 mutation or other cancer susceptibility gene.
  • You have other cancer types such as pancreatic or prostate cancer in your family in addition to other features mentioned above.

While the average woman in the United States has about a 12-13 percent of developing breast or ovarian cancer over her lifetime, women with the BRCA gene mutation have a 40 to 85 percent lifetime risk of developing breast cancer and anywhere from 20 to 60 percent chance of developing ovarian cancer.  BrightPink offers a tool, to determine if you have a higher risk of breast or ovarian cancer. This tool is not intended to replace medical advice. If you think you may be at a high risk of developing breast or ovarian cancer, contact your primary care physician.

Family history of breast cancer doesn’t necessarily mean that a cancer is hereditary.  It may simply be due to chance or a combination of genetic and environmental factors. If you have questions about your family history and/or risk, talk to your health care provider about meeting with a genetic counselor. Having routine screening exams such as mammography and clinical breast exam are another step you can take to help find cancer early, when it is most treatable.

What Can Genetic Counseling Do for Me?

Genetic counselors explain the biology and genetics of inherited cancer risk and address concerns about family history of cancer. During genetic counseling, you are provided with a complete cancer risk evaluation. Genetic testing may be discussed based on your personal and family history to determine if it is something you should consider. Just because you meet with a genetic counselor doesn’t mean that you will have a genetic test.  It isn’t for everyone. Your genetic counselor will help you make the decision that is right for you.

If I Am Recommended for Genetic Testing, What Does That Mean?

Genetic testing is used to identify changes in your genes. A blood or saliva test can be taken for DNA analysis to determine if you have mutations in certain genes like BRCA1 and 2 or other cancer genes. It is typically covered by insurance.  Some insurers require documentation of medical necessity, while others require you to undergo genetic counseling before a genetic test can be performed. Your genetic counselor will help you through the insurance process. Patients are often concerned about genetic discrimination, but there are laws in place to protect you, preventing health insurers from using the results of a gene test to affect your eligibility or rates.

When it comes to your health and your family’s health, the more information you have, the better. Angelina Jolie’s decision to make her mastectomy public has increased awareness of the importance of genetic risks for cancer. Genetic testing can be a deeply personal choice with lasting consequences that may save lives.

Family history is a key factor in determining the likelihood of hereditary cancers; however, even women who don’t have a family history of breast or ovarian cancer are at risk. Family history starts somewhere so it’s important to be vigilant about your health.