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Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool.

Mattia GaruttiLorenzo FoffanoRoberta MazzeoAnna MichelottiLucia Da RosAlessandra VielGianmaria MioloAlberto ZambelliFabio Puglisi
Published in: Genes (2023)
Hereditary cancer syndromes account for nearly 10% of cancers even though they are often underdiagnosed. Finding a pathogenic gene variant could have dramatic implications in terms of pharmacologic treatments, tailored preventive programs, and familiar cascade testing. However, diagnosing a hereditary cancer syndrome could be challenging because of a lack of validated testing criteria or because of their suboptimal performance. In addition, many clinicians are not sufficiently well trained to identify and select patients that could benefit from a genetic test. Herein, we searched the available literature to comprehensively review and categorize hereditary cancer syndromes affecting adults with the aim of helping clinicians in their daily clinical practice through a visual tool.
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