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

Detalhes bibliográficos
Autor(a) principal: Gomy,Israel
Data de Publicação: 2016
Outros Autores: Diz,Maria Del Pilar Estevez
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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spelling 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)
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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
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