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Comment & Response
September 1, 2022

Hereditary Cancer Syndromes—A Broader Clinical Spectrum Than Previously Understood?—Reply

Author Affiliations
  • 1National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland
  • 2Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee
  • 3Clinical and Translational Hereditary Cancer Program, Division of Genetic Medicine, Vanderbilt-Ingram Cancer Center, Vanderbilt University, Nashville, Tennessee
JAMA Oncol. 2022;8(11):1699. doi:10.1001/jamaoncol.2022.3779

In Reply We appreciate the thoughtful comments from Drs Narayanan and Najjar, who questioned whether the associations with noncancer diagnoses were the result of increased surveillance after a genetic diagnosis. We have reviewed our data from the electronic health records linked to the Hereditary Cancer Registry (HCR).1 As expected, many of the carriers in our studies were under intensive surveillance once they had genetic diagnoses. However, for the BRCA1/2 association with ovarian cysts, 50% of the ovarian cysts were diagnosed at least 1 year before their pathogenic or likely pathogenic genetic test report. The most common reasons for imaging were pelvic pain and/or menorrhagia and thus was due to diagnostic imaging rather than high-risk surveillance. These data supported the possibility of a higher risk of ovarian cysts among these carriers even before surveillance.

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