Breast Cancer 101

A Guide to Breast Cancer by Susan G. Komen

Genetic Testing and Counseling

Transcript

Genetic testing gives people the chance to determine whether their breast cancer or family history of breast cancer is due to an inherited gene mutation. Genetic testing is only recommended for certain people at higher risk. If you’ve never been diagnosed with breast cancer, consider genetic testing if you have:

  • A family member with a BRCA1 or BRCA2 inherited gene mutation or other inherited gene mutation related to breast cancer
  • An Ashkenazi Jewish heritage and a family history of breast cancer
  • A close family member diagnosed with breast cancer at age 50 or younger, and
  • A close family member diagnosed with male breast cancer, ovarian cancer, pancreatic cancer, or high-risk or metastatic prostate cancer at any age

If you’ve been diagnosed with breast cancer, consider genetic testing if you were diagnosed:

  • At age 50 or younger
  • With male breast cancer
  • With triple negative breast cancer.
  • With 2 or more separate breast cancers involving the same breasts or both breasts
  • With past ovarian or pancreatic cancer
  • With a rare tumor such as bone cancer or sarcoma, adrenal gland cancer, follicular thyroid cancer or diffuse gastric cancer. Or if a family member has been diagnosed with one of these cancers.

You can also consider genetic testing if you’ve been diagnosed with breast cancer and have:

  • Ashkenazi Jewish heritage from at least one grandparent
  • A close family member who was diagnosed with breast cancer at age 50 or younger, or
  • A close family member who was diagnosed with male breast cancer, ovarian cancer, pancreatic cancer, or high-risk or metastatic prostate cancer at any age

If you or an immediate family member is the only person in your family with breast cancer, it’s unlikely that your family carries a BRCA mutation. It’s important to note that men can also carry inherited gene mutations and may pass them on to their children. However, in the U.S., only about 5 to 10% of all breast cancers in women are due to an inherited gene mutation. Results from genetic testing provide information about a person’s risk of breast cancer due to an inherited gene mutation. Even if you don’t have all the information to help you decide if you should get genetic testing, such as information about your family history, talking with a health care provider about your risk factors can still help you understand your risk of developing breast cancer. Genetic testing is a complex issue that involves both personal and family considerations, as well as ethical issues regarding privacy and discrimination. Genetic testing is only recommended for certain people with a high risk of having an inherited gene mutation related to breast cancer. Even when it’s recommended, genetic testing is a personal choice. The first step in deciding whether to have genetic testing is to speak with a genetic counselor or another qualified health care provider, such as a doctor or nurse. The genetic counselor can review the testing process and explain complex medical and scientific information. They can also help you understand what the possible test results could mean for you. There are benefits and risks to genetic testing you want to consider. For example, one emotional benefit to knowing whether you have an inherited gene mutation is that stress from the uncertainty may lessen. But there may be anxiety and other stressors if the test results are positive. You may also feel overwhelmed by what to do next and how to share the test results with your family. Knowing the risks and benefits and having support from the genetic counselor can help you decide whether genetic testing is right for you. If you decide to get testing, the counselor will work with you to develop a pedigree, which is a diagram using standard symbols to illustrate your family history. This is one example. They will ask about any history of breast cancer and other medical conditions among your relatives including first degree relatives, which are your parents, siblings and children; second degree relatives, which are your aunts, uncles, nieces, nephews and grandparents; and third-degree relatives, which include first cousins. In some cases, information about more distant relatives may also be needed. Then, the genetic counselor will help you decide which test is right for you. You’ll review and sign a consent form, and the genetic counselor can help you make arrangements to take the test. It may be done right after your appointment with the genetic counselor, or at a later time. You can ask the counselor when you’ll receive your results. Once you get them, your counselor can discuss what the results might mean for you, including your health, emotions and what they may mean for your family. Everyone reacts to the results of genetic testing differently. The counselor can discuss some common reactions and help you think about how your family might take the news, whether it’s a positive or negative result, and what next steps they might face. They can also provide support and connect you or your family members with ongoing psychosocial resources, if needed. These are some important things to think about when you are considering genetic testing. Working with a trained professional to resolve these and other issues is an essential step. Your health care provider should be able to refer you to a genetic counselor, and there’s also an online directory from the National Society of Genetic Counselors that can help you find one near you. Komen’s Patient Care Center can help meet the needs of anyone impacted by breast cancer. Our navigators offer free, personalized navigation services to patients, caregivers and family members, including breast health and breast cancer information, access to services and resources, emotional support and more. Get connected with a Komen navigator at 1-877-GO KOMEN (1-877-465-6636), Monday through Thursday from 9:00 a.m. to 7:00 p.m. ET, and Friday from 9:00 a.m. to 6:00 p.m. ET, or by email at helpline@komen.org. To learn more, you can visit the Risk Factors section on komen.org.

Support is available from other organizations as well.

For example, FORCE offers support for individuals and families facing hereditary cancer. Sharsheret has support for Jewish women affected by hereditary breast or ovarian cancer.