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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...
Autores principales: | , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sociedade Brasileira de Genética
2016
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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. |
format | Online Article Text |
id | pubmed-4910549 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Sociedade Brasileira de Genética |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT gomyisrael hereditarycancerriskassessmentinsightsandperspectivesforthenextgenerationsequencingera AT dizmariadelpilarestevez hereditarycancerriskassessmentinsightsandperspectivesforthenextgenerationsequencingera |