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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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Autores principales: Garutti, Mattia, Foffano, Lorenzo, Mazzeo, Roberta, Michelotti, Anna, Da Ros, Lucia, Viel, Alessandra, Miolo, Gianmaria, Zambelli, Alberto, Puglisi, Fabio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218093/
https://www.ncbi.nlm.nih.gov/pubmed/37239385
http://dx.doi.org/10.3390/genes14051025
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author Garutti, Mattia
Foffano, Lorenzo
Mazzeo, Roberta
Michelotti, Anna
Da Ros, Lucia
Viel, Alessandra
Miolo, Gianmaria
Zambelli, Alberto
Puglisi, Fabio
author_facet Garutti, Mattia
Foffano, Lorenzo
Mazzeo, Roberta
Michelotti, Anna
Da Ros, Lucia
Viel, Alessandra
Miolo, Gianmaria
Zambelli, Alberto
Puglisi, Fabio
author_sort Garutti, Mattia
collection PubMed
description 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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spelling pubmed-102180932023-05-27 Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool Garutti, Mattia Foffano, Lorenzo Mazzeo, Roberta Michelotti, Anna Da Ros, Lucia Viel, Alessandra Miolo, Gianmaria Zambelli, Alberto Puglisi, Fabio Genes (Basel) Review 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. MDPI 2023-04-30 /pmc/articles/PMC10218093/ /pubmed/37239385 http://dx.doi.org/10.3390/genes14051025 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Garutti, Mattia
Foffano, Lorenzo
Mazzeo, Roberta
Michelotti, Anna
Da Ros, Lucia
Viel, Alessandra
Miolo, Gianmaria
Zambelli, Alberto
Puglisi, Fabio
Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title_full Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title_fullStr Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title_full_unstemmed Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title_short Hereditary Cancer Syndromes: A Comprehensive Review with a Visual Tool
title_sort hereditary cancer syndromes: a comprehensive review with a visual tool
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218093/
https://www.ncbi.nlm.nih.gov/pubmed/37239385
http://dx.doi.org/10.3390/genes14051025
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