Category Archives: Genetic Testing

What does a formal risk assessment involve?

This process typically involves working through the following series of steps with a genetic counselor:

  • Education about breast and ovarian cancer and the factors that increase and decrease risk
  • Analysis of your family tree, showing the pattern of cancer in your family—who was affected and their ages at diagnosis
  • Education and counseling about genetic testing options (a blood test for inherited mutations in the genes known as BRCA1 and BRCA2)
  • Genetic testing, if appropriate
  • Discussion of the test results
  • Further counseling about special screening and risk-reduction options, if you are found to be high risk.

Reviewed by Jill Stopfer, MS

I have a couple of relatives who have been diagnosed with breast cancer. Does that automatically mean I am at high risk?

Not necessarily. It really depends on the pattern of cancer in your family. Your doctor may suspect Hereditary Breast and Ovarian Cancer Syndrome—the name given to inherited risk for these diseases—based on the following criteria:

  • Two or more family members on the same side (your mother’s or father’s) have been diagnosed with breast and/or ovarian cancer.
  • One or more cases of these cancers were diagnosed before age 50. (Because most cancers develop later in life, younger diagnosis suggests the possibility of inherited risk.)
  • Your affected relative(s) is your first-degree relation (mother, sister, daughter).
  • Any relative had cancer more than once, had breast cancer in both breasts, or has had both breast and ovarian cancer.
  • You are of Eastern European Jewish ancestry and have had breast or ovarian cancer, or a history of breast or ovarian cancer in close relatives.
  • A close relative has had male breast cancer.

To fully understand whether or not you might be “high risk,” you need to go through a formal risk assessment process with a genetic counselor, a health professional specially trained to provide information and advice about inherited conditions.

Reviewed by Jill Stopfer, MS