Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

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 heredita...

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Veröffentlicht in:Genes 2023-04, Vol.14 (5), p.1025
Hauptverfasser: Garutti, Mattia, Foffano, Lorenzo, Mazzeo, Roberta, Michelotti, Anna, Da Ros, Lucia, Viel, Alessandra, Miolo, Gianmaria, Zambelli, Alberto, Puglisi, Fabio
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Sprache:eng
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Zusammenfassung: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.
ISSN:2073-4425
2073-4425
DOI:10.3390/genes14051025