As genetic testing becomes increasingly available in contemporary oncology and as more germline mutations associated with a high risk of cancer are discovered, the clinician's responsibility increases to recognize the small but growing minority of patients with hereditary cancer predisposition syndromes. Experts estimate that these patients constitute approximately 5% to 10% of all patients with cancer.1 Most frequently, suspicion of a hereditary syndrome is raised by a family history of multiple family members affected by the same or similar diagnoses across consecutive generations. This report presents the case of a patient without significant family history but with an unusual constellation of malignancies and pathologies, which prompted further investigation for an eponymous syndrome—a high-penetrance cancer predisposition syndrome associated with a well-defined genetic alteration. We discuss the diagnostic process, the indications for genetic consultation, and the limitations of evidence-based recommendations.
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