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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...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2023
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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. |
format | Online Article Text |
id | pubmed-10218093 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2023 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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