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Review
. 2023 Apr 30;14(5):1025.
doi: 10.3390/genes14051025.

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Mattia Garutti  1 , Lorenzo Foffano  1   2 , Roberta Mazzeo  1   2 , Anna Michelotti  1   2 , Lucia Da Ros  1 , Alessandra Viel  3 , Gianmaria Miolo  1 , Alberto Zambelli  4   5 , Fabio Puglisi  1   2
Affiliations
Review

Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool

Mattia Garutti et al. Genes (Basel). .

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.

Keywords: BRCA; Li–Fraumeni; breast cancer; cancer genetics; cancer predisposition syndromes; colon cancer; hereditary cancer syndromes; lynch syndrome; melanoma.

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Conflict of interest statement

M.G. has received honoraria or consultation fees from Novartis, Eli Lilly, Pierre-Fabre, Organon, and Roche, and travel fees from Daichii Sankyo, all outside the submitted work. F.P. reports the receipt of grants/research supports from AstraZeneca, Eisai, and Roche, and receipt of honoraria or consultation fees from Amgen, AstraZeneca, Daichii Sankyo, Celgene, Eisai, Eli Lilly, Gilead, GSK, Ipsen, MSD, Novartis, Pierre-Fabre, Pfizer, Roche, Seagen, Takeda, Menarini, and Viatris. A.Z. received honoraria for advisory board contributions and consultancy from Novartis, AstraZeneca, Lilly, Daiichi Sankyo, Merck Sharp & Dohme, Roche, Seagen, Exact Sciences, Gilead, and Pfizer, all outside the submitted work. Other authors declare no conflict of interest.

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