Which factors are used to determine likelihood of BRCA mutations in breast cancer risk assessment?

Updated: Dec 16, 2019
  • Author: Jessica Katz, MD, PhD, FACP; Chief Editor: Marie Catherine Lee, MD, FACS  more...
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Answer

Answer

Risk assessment tools are designed to quantify a patient's risk for breast cancer, and thus can assist in the decision on whether or not to refer a patient for genetics counselling and/or whether or not to pursue a workup for inherited cancer syndromes. Several risk assessment tools exist. In general, these tools elicit information about factors that epidemiologic studies have identified as associated with increased risk, including the likelihood of BRCA mutations, such as the following:

  • Breast cancer diagnosis before age 50 years
  • Bilateral breast cancer
  • Presence of breast and ovarian cancer
  • Presence of breast cancer in 1 or more male family members
  • Multiple cases of breast cancer in the family
  • One or more family members with 2 primary types of BRCA-related cancer
  • Ashkenazi Jewish ethnicity

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