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Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era

Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagn...

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Detalles Bibliográficos
Autores principales: Gomy, Israel, Diz, Maria Del Pilar Estevez
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Genética 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910549/
https://www.ncbi.nlm.nih.gov/pubmed/27192130
http://dx.doi.org/10.1590/1678-4685-GMB-2014-0346
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author Gomy, Israel
Diz, Maria Del Pilar Estevez
author_facet Gomy, Israel
Diz, Maria Del Pilar Estevez
author_sort Gomy, Israel
collection PubMed
description Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries. More recently, molecular diagnosis of hereditary cancer is feasible through next-generation sequencing (NGS) panels. Here we review the benefits and limitations of NGS technologies in the clinical practice.
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spelling pubmed-49105492016-07-01 Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era Gomy, Israel Diz, Maria Del Pilar Estevez Genet Mol Biol Special Oncogenetics Hereditary cancer risk assessment is a multidisciplinary and dynamic process, with the purpose of estimating probabilities of germline mutations in cancer susceptibility genes and assessing empiric risks of cancer based on personal and family histories, in order to offer clinical and molecular diagnoses and clinical management based on these risks. Genetic tests are available and most of them are reimbursed by insurance companies, although they are generally not covered by the public health systems of developing countries. More recently, molecular diagnosis of hereditary cancer is feasible through next-generation sequencing (NGS) panels. Here we review the benefits and limitations of NGS technologies in the clinical practice. Sociedade Brasileira de Genética 2016-05-13 2016 /pmc/articles/PMC4910549/ /pubmed/27192130 http://dx.doi.org/10.1590/1678-4685-GMB-2014-0346 Text en Copyright © 2016, Sociedade Brasileira de Genética. http://creativecommons.org/licenses/by/4.0/ License information: This is an open-access article distributed under the terms of the Creative Commons Attribution License (type CC-BY), which permits unrestricted use, distribution and reproduction in any medium, provided the original article is properly cited.
spellingShingle Special Oncogenetics
Gomy, Israel
Diz, Maria Del Pilar Estevez
Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title_full Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title_fullStr Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title_full_unstemmed Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title_short Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
title_sort hereditary cancer risk assessment: insights and perspectives for the next-generation sequencing era
topic Special Oncogenetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4910549/
https://www.ncbi.nlm.nih.gov/pubmed/27192130
http://dx.doi.org/10.1590/1678-4685-GMB-2014-0346
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