Hereditary breast and ovarian cancer tests

Some families seem to have exceptionally bad luck when it comes to cancer. There are mothers and daughters, sisters and aunts who have battled with breast or ovarian cancer, frequently more than once. But it’s more than simple bad luck – the elevated risk for developing cancer is part of their genes.

Every year in the United States, more than 207,000 patients are diagnosed with breast cancer and more than 21,000 are diagnosed with ovarian cancer. Up to 10 percent of these cases are caused by Hereditary Breast and Ovarian Cancer (HBOC) Syndrome. There are genetic tests that can help a patient understand their potential risk for developing cancer. However, there are several important issues to consider before deciding if this kind of test is right for you.

What is HBOC?

HBOC is a syndrome that produces higher than normal rates of breast and ovarian cancer in family members who are genetically related. Most cases of HBOC are related to mutations in two specific genes, called BRCA1 and BRCA2.

Normally, these genes produce proteins that help to suppress tumors by repairing damaged DNA. In this way, they ensure that the cell’s genetic material is stable. However, when someone inherits a specific mutation of these genes, they no longer work properly. DNA damage is not repaired, which can result in additional genetic abnormalities that eventually lead to cancer.

Who Is at Risk?

Genetic testing for BRCA1 and BRCA2 is not appropriate for everyone. However, certain people and families may be at higher risk for having hereditary cancer if they fall into any of the following categories:

  • A diagnosis of breast cancer before age 50
  • Cancer in both breasts in the same woman
  • Both breast and ovarian cancers in the same woman or the same family
  • Multiple breast cancers
  • Cases of male breast cancer
  • Ashkenazi Jewish ethnicity
  • Two or more primary types of BRCA1- or BRCA2-related cancers in a single family member

Should You Get Tested?

If you or a family member is at higher risk for having hereditary cancer, a genetic screening test may be appropriate. Mutations in the BRCA1 and BRCA2 genes can be identified through blood and saliva tests. However, it’s essential to also have a discussion with a genetic counselor as part of this process, since there are complex issues surrounding testing.

The counselor will help you understand if testing is appropriate, the medical implications of the test results, the potential for inconclusive results, the psychological impact of testing, and the likelihood that you or a family member would pass the gene mutation to their children.

What If the Test Results Are Positive?

If the tests indicate that you have the BRCA mutation, there are several options for managing your increased cancer risk:

  • Enhanced screening: Some patients who test positive have more frequent cancer screenings starting at a younger age.
  • Prophylactic surgery: This surgical option involves removing as much of the at-risk tissue as possible, including both breasts, fallopian tubes and ovaries.
  • Chemoprevention: In patients who have the mutation and have already had cancer, medications and vitamins can be used to help reduce the risk of cancer recurrence.

If your personal history or family history puts you at greater for developing breast or ovarian cancer, it’s important that you speak with your doctor about preventive strategies and treatment options. Early detection is the strongest weapon in the battle against cancer.

About the Author

Patricia Hollenback, R.N., BSN, OCN

Patti is a champion for cancer prevention and early detection. As a nurse navigator, her primary goal is to create an open and trusting relationship with her patients in order to guide them through the medical maze of testing, treatment and recovery

About Crozer Keystone Staff

Crozer-Keystone Health System’s physicians, specialists and advanced practitioners are committed to improving the health of our community through patient-centered, quality care across a full continuum of health services. Crozer Brinton Lake is Crozer-Keystone’s comprehensive outpatient care facility in western Delaware County, offering primary care, specialty services, outpatient surgery and advanced cancer treatment. Contact us: 300 Evergreen Drive, Glen Mills, PA 19342 1-855-254-7425



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