Discussion on: Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome

Published:November 07, 2019DOI:
      DR. STEPHANIE VALENTE (Cleveland, Ohio): As we heard, the authors evaluated 88 patients with a strong family history of breast cancer who underwent genetic testing and were negative. They used the term “uninformed result” because physicians don’t know how to properly counsel or subsequently screen a patient with a strong family history and subsequent negative genetic results. The results of the study showed that there is a patient population at significant risk for developing breast cancer and that the uninformative result patient should be further explored to identify proper individualized high risk screening plan. Following the patients in this study long term to determine concordance between risk calculation and further development of breast cancer will be important.
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      • Breast cancer risk assessment in patients who test negative for a hereditary cancer syndrome
        The American Journal of SurgeryVol. 219Issue 3
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          The majority of women who undergo genetic testing due to a significant family history of breast cancer will receive a negative result. Using three widely used risk assessment models, we calculated lifetime breast cancer risks of women who had undergone genetic testing and received a negative result. We found that over half of the women included in the study were considered to be high-risk for the development of breast cancer.
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