Breast and Ovarian Cancer Among Individuals Undergoing and Testing

What are the lifetime risks of breast and ovarian cancer among females undergoing or testing across different result categories, and how does family history modify risk? In this cohort study of 41 786 females eligible for breast cancer incidence evaluation and 79 656 females eligible for ovarian cancer incidence evaluation, pathogenic or likely pathogenic variant carriers had high lifetime risks of breast and ovarian cancer, and risks were further increased among individuals with positive family history. Individuals with variants of uncertain significance or negative results also had elevated breast cancer risk, while predictive (ie, true) negatives had risks similar to the general population. These findings suggest that cancer risk after or testing varies by test result and family history, supporting individualized risk assessment and management beyond test results alone.

Corresponding Author: Fahima Dossa, MD, PhD, Department of Surgery, Cedars-Sinai Medical Center, 8700 Beverly Blvd, South Tower, Ste 5532, Los Angeles, CA 90048 (fahima.dossa@cshs.org).

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