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Ep041: How Long Will They Wait? Applying Updated NCCN Criteria to Previously Unqualified Patients Reveals Missed Opportunities for Personalized Cancer Management

Genetics in medicine(2022)

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摘要
Uncovering germline genetic variants responsible for cancer predisposition allows providers to implement personalized medical care for patients. The NCCN Guidelines were designed to help identify individuals who qualify for genetic testing, yet multiple studies have shown that approximately half of patients with pathogenic or likely pathogenic variants are missed using these guidelines. While guidelines have continued to evolve as more robust data have become available, patients who do not meet these guidelines at the time of assessment may not be identified as having a cancer predisposition syndrome.
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