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.

Garutti, M., Foffano, L., Mazzeo, R., Michelotti, A., Da Ros, L., Viel, A., et al. (2023). Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. GENES, 14(5) [10.3390/genes14051025].

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Zambelli A.;
2023

Abstract

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.
Articolo in rivista - Review Essay
BRCA; breast cancer; cancer genetics; cancer predisposition syndromes; colon cancer; hereditary cancer syndromes; Li–Fraumeni; lynch syndrome; melanoma;
English
30-apr-2023
2023
14
5
1025
open
Garutti, M., Foffano, L., Mazzeo, R., Michelotti, A., Da Ros, L., Viel, A., et al. (2023). Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool. GENES, 14(5) [10.3390/genes14051025].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/527186
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