Jefferson University Hospitals

Breast Cancer Testing

Our experts at Jefferson's Clinical Cancer Genetics Service will work with you to identify if you are predisposed to breast cancer.

Hereditary cancer syndromes occur in 5-10% of breast and ovarian cancers.

  • When a genetic mutation is passed from either mother or father to a child at the time of conception, it is known as a “germline mutation” and the mutation will be present in every cell of the child’s body.
  • Lifetime risk for certain cancers in people with a hereditary cancer syndrome is often significantly increased over that of people in the general population.
  • Through genetic testing, we may be able to find the reason for breast, ovarian and other cancer occurrence in certain families.
The majority of cancers (70-90%), including breast and ovarian, are NOT hereditary and are due to genetic changes called “somatic mutations” which we acquire over our lifetime.
  • These acquired genetic changes are not inherited and may be related to complex environmental exposures, “gene-to-gene” interactions, and how well our immune system functions.
  • Hormones, weight gain, alcohol consumption, age at first childbirth, chemicals or additives in food or drink and other things, both known and yet to be determined, have a role in how most non-hereditary breast cancers develop.

Mutations in the BRCA1 and BRCA2 genes are related to the majority of hereditary breast cancers; but there are other genes, too, that may be involved.

  • A relatively new technology called “next generation sequencing” (NGS) makes it possible to test many different genes together to see if we can find a less-common explanation for the cancer occurrence.
  • However, there are risks, benefits, and limitations related to NGS testing and the best way to make an informed decision is to have a genetic consultation with a qualified genetics professional.

Genetic Testing Criteria for Hereditary Breast Cancer

You may meet criteria for hereditary breast cancer genetic testing if any of the following are observed for you and/or your family:

  • Any woman with a personal history of breast cancer diagnosed at age 45 or younger
  • Any woman with a personal history of triple negative breast cancer (TNBC) diagnosed at age 60 or younger
  • Any Ashkenazi Jewish woman with a personal history of breast cancer
  • A person without a personal history of cancer who has a 1st, 2nd, or 3rd-degree family member on either side of the family with a known BRCA, or other genetic mutation
  • Breast and ovarian cancer in the same woman
  • Cancer in both breasts, or more than one cancer in the same breast, if the first was diagnosed at age 50 or younger
  • Any man diagnosed with breast cancer, or an individual who has a close male relative with breast cancer

These are not the only cancer genetic testing criteria. For instance, additional family history matters. To best determine your hereditary cancer risk and appropriateness for genetic testing, talk with our qualified cancer genetics professional.

Our genetic counselor, or advanced practice nurse, will review your family and medical history and provide information related to the following:

  • Discussion of the roles genes play in the development of cancer
  • Personalized cancer risk assessment
  • Individualized cancer screening recommendations
  • Cancer risk-reduction options and prevention strategies
  • Discussion of the risks, benefits and limitations of genetic testing
  • Genetic testing if appropriate
  • Facilitation of genetic testing
  • Post-testing genetic counseling with genetic testing results
  • Facilitation of specialist appointments, if necessary
  • Opportunity to participate in research studies

Learn more about making an appointment for a hereditary breast and ovarian cancer genetic consultation or for a cancer risk assessment by contacting Sue Miller-Samuel, MSN, RN, AGN-BC, at 215-955-9098.