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Information for Health Care Professionals

How common are BRCA1 and BRCA2 mutations?

What percentage of breast and ovarian cancers are caused by BRCA1 or BRCA2 mutations?

What are the lifetime cancer risks associated with BRCA1 and BRCA2 mutations?

Which patients should I refer to a genetic counselor for risk assessment and discussion of genetic testing for BRCA1 and BRCA2 mutations?

Patients who have a personal or family history (this includes maternal or paternal lineages) or those who have had:1-3,5

Specific indications for genetic counseling and testing vary among professional organizations. The indications above are to be used as a guide and are not a substitute for clinical judgment. Not all clinical scenarios can be anticipated such as when there is a limited family structure or family medical history.

What are the benefits of genetic counseling when offering BRCA1 and BRCA2 testing?


Genetics health care professionals:

BRCA1 and BRCA2 referral, testing and risk management guidelines:

Patient friendly facts about genetic testing for breast and ovarian cancer risk


  1. Berliner, J.L. et al. (2007) Risk assessment and genetic counseling for hereditary breast and ovarian cancer: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling. 16:241-260.
  2. U.S. Centers for Disease Control and Prevention. Located September 4, 2009, at
  3. National Cancer Institute. Genetic Testing for BRCA1 and BRCA2: It’s Your Choice. Located September 4, 2009, at
  4. Pinsky, L.E., et al. (2001) Why should primary care physicians know about breast cancer genetics? Western Journal of Medicine. 175:168-173.
  5. Guidelines listed in Resources above.

Additional Information

Illinois Department of Public Health
Genetics Program
535 W. Jefferson St., Second Floor
Springfield, IL 62761

535 West Jefferson Street Springfield, Illinois 62761 · Phone 217-782-4977 · Fax 217-782-3987 · TTY 800-547-0466
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