Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era
Autor(a) principal: | |
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Data de Publicação: | 2016 |
Outros Autores: | |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Genetics and Molecular Biology |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200184 |
Resumo: | Abstract 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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Genetics and Molecular Biology |
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Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing eranext-generation sequencinghereditary cancergenetic counselingrisk assessmentAbstract 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 Genética2016-06-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200184Genetics and Molecular Biology v.39 n.2 2016reponame:Genetics and Molecular Biologyinstname:Sociedade Brasileira de Genética (SBG)instacron:SBG10.1590/1678-4685-gmb-2014-0346info:eu-repo/semantics/openAccessGomy,IsraelDiz,Maria Del Pilar Estevezeng2017-03-17T00:00:00Zoai:scielo:S1415-47572016000200184Revistahttp://www.gmb.org.br/ONGhttps://old.scielo.br/oai/scielo-oai.php||editor@gmb.org.br1678-46851415-4757opendoar:2017-03-17T00:00Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG)false |
dc.title.none.fl_str_mv |
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 |
spellingShingle |
Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era Gomy,Israel next-generation sequencing hereditary cancer genetic counseling risk assessment |
title_short |
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_sort |
Hereditary cancer risk assessment: insights and perspectives for the Next-Generation Sequencing era |
author |
Gomy,Israel |
author_facet |
Gomy,Israel Diz,Maria Del Pilar Estevez |
author_role |
author |
author2 |
Diz,Maria Del Pilar Estevez |
author2_role |
author |
dc.contributor.author.fl_str_mv |
Gomy,Israel Diz,Maria Del Pilar Estevez |
dc.subject.por.fl_str_mv |
next-generation sequencing hereditary cancer genetic counseling risk assessment |
topic |
next-generation sequencing hereditary cancer genetic counseling risk assessment |
description |
Abstract 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. |
publishDate |
2016 |
dc.date.none.fl_str_mv |
2016-06-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200184 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47572016000200184 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1590/1678-4685-gmb-2014-0346 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
publisher.none.fl_str_mv |
Sociedade Brasileira de Genética |
dc.source.none.fl_str_mv |
Genetics and Molecular Biology v.39 n.2 2016 reponame:Genetics and Molecular Biology instname:Sociedade Brasileira de Genética (SBG) instacron:SBG |
instname_str |
Sociedade Brasileira de Genética (SBG) |
instacron_str |
SBG |
institution |
SBG |
reponame_str |
Genetics and Molecular Biology |
collection |
Genetics and Molecular Biology |
repository.name.fl_str_mv |
Genetics and Molecular Biology - Sociedade Brasileira de Genética (SBG) |
repository.mail.fl_str_mv |
||editor@gmb.org.br |
_version_ |
1752122386756403200 |