by Katrina Trivers, Deb Duquette, and Kate Reed
Today, a state public health department received the following phone calls:
- A third-year family medicine resident at a clinic in an underserved community asks if a 25-year-old female patient with several family members who died of breast cancer at a young age should have BRCA testing.
- A mother of three young children who just moved to the state asks where to go for counseling because there is a known BRCA mutation in her family.
- An OB/GYN wonders if there is a tool to identify a low- versus high-risk family history of cancer.
If you are a public health practitioner, health care professional, or individual with a family or personal history of cancer, what information or resources would you turn to?
Genomic medicine is a reality for many families.
Certain cancers can be prevented by knowing a patient’s family history of cancer or which genetic mutations they carry. About 5%–10% of breast cancers and 10%–15% of ovarian cancers are due to inherited changes in genes. For example, everyone has BRCA1 and BRCA2 genes. Normally, these genes help fix damaged DNA. But mutations in these genes cause them to function incorrectly and prevent damaged DNA from being fixed correctly, leading to cancer. A woman’s risk of developing breast cancer, ovarian cancer, or both is greatly increased if she has one of these harmful mutations; she’s at more than a 65% lifetime risk of breast cancer and a 40% risk of ovarian cancer. For comparison, people without such genetic mutations have a 12% lifetime risk of breast cancer and a 1%–2% risk of ovarian cancer.
Family history can help identify people who are more likely to carry these mutations and may benefit from genetic counseling and testing. Finding a harmful BRCA1 or BRCA2 change can empower patients to potentially prevent a cancer or manage their cancer risk through enhanced screening, risk-reducing surgery, and certain medications (chemoprevention).
Family history information can save patients’ lives! Encourage your patients to learn their family history of cancer for all relatives through their grandparents’ generation if possible, including the type of cancer and age when it was diagnosed.
Learn more about identifying patients at increased risk to develop breast cancer, ovarian cancer, or both. Hereditary Breast and Ovarian Cancer: Is Your Patient at High Risk? is a free CME course for primary care providers developed by collaborators from the Michigan Department of Community Health, Georgia Department of Public Health, Oregon Health Authority, Moffitt Cancer Center, National Coalition of Health Professional Education in Genetics (now The Jackson Laboratory), and CDC’s Division of Cancer Prevention and Control. The program includes interactive cases and resources designed to improve your ability to identify, evaluate, and manage patients at risk for hereditary breast and ovarian cancer. It also includes links to risk assessment tools and resources.