Current evidence for universal molecular testing for colorectal cancer patients
Autor(a) principal: | |
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Data de Publicação: | 2017 |
Outros Autores: | , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Journal of Coloproctology (Rio de Janeiro. Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632017000300174 |
Resumo: | Abstract Background Risk assessment for Lynch Syndrome may be a complex and challenging task. Demonstration of germline mutations has the benefits of confirming Lynch Syndrome diagnosis and may also provide screening and surgical orientation for affected members and relief for non-affected relatives. Objective The present paper aimed to critically review the criteria to diagnose Lynch Syndrome, focusing the attention on the new perspective of adopting universal screening for patients diagnosed with colorectal cancer. Methods We performed a literature review about the rationale and preliminary results of universal testing for Lynch Syndrome. Results The use of selective eligibility criteria to determine who should undergo Lynch Syndrome testing may fail in a substantial proportion of cases. Moreover, universal strategy is feasible, cost-effective and more sensitive than previous methods. However, there still exist problems regarding clinical practice implementation and compliance either by medical doctors and patients. Conclusions Standard guidelines for colorectal cancer screening are not ideal to provide early detection of Lynch Syndrome patients. And although universal screening has been associated with an increased identification of Lynch Syndrome patients, a successful implementation of this approach is still limited by the lack of clinical expertise among physicians, and also requires standardization of the existing protocols for routine genetic screening. |
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Journal of Coloproctology (Rio de Janeiro. Online) |
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Current evidence for universal molecular testing for colorectal cancer patientsLynch SyndromeGeneticsScreeningColorectal cancerTestingAbstract Background Risk assessment for Lynch Syndrome may be a complex and challenging task. Demonstration of germline mutations has the benefits of confirming Lynch Syndrome diagnosis and may also provide screening and surgical orientation for affected members and relief for non-affected relatives. Objective The present paper aimed to critically review the criteria to diagnose Lynch Syndrome, focusing the attention on the new perspective of adopting universal screening for patients diagnosed with colorectal cancer. Methods We performed a literature review about the rationale and preliminary results of universal testing for Lynch Syndrome. Results The use of selective eligibility criteria to determine who should undergo Lynch Syndrome testing may fail in a substantial proportion of cases. Moreover, universal strategy is feasible, cost-effective and more sensitive than previous methods. However, there still exist problems regarding clinical practice implementation and compliance either by medical doctors and patients. Conclusions Standard guidelines for colorectal cancer screening are not ideal to provide early detection of Lynch Syndrome patients. And although universal screening has been associated with an increased identification of Lynch Syndrome patients, a successful implementation of this approach is still limited by the lack of clinical expertise among physicians, and also requires standardization of the existing protocols for routine genetic screening.Sociedade Brasileira de Coloproctologia2017-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632017000300174Journal of Coloproctology (Rio de Janeiro) v.37 n.3 2017reponame:Journal of Coloproctology (Rio de Janeiro. Online)instname:Sociedade Brasileira de Coloproctologia (SBCP)instacron:SBCP10.1016/j.jcol.2017.06.003info:eu-repo/semantics/openAccessCampos,Fábio GuilhermeFigueiredo,Marleny NovaesMartinez,Carlos Augusto Realeng2017-08-23T00:00:00Zoai:scielo:S2237-93632017000300174Revistahttp://www.scielo.br/scielo.php?script=sci_serial&pid=2237-9363&lng=pt&nrm=isohttps://old.scielo.br/oai/scielo-oai.php||sbcp@sbcp.org.br2317-64232237-9363opendoar:2017-08-23T00:00Journal of Coloproctology (Rio de Janeiro. Online) - Sociedade Brasileira de Coloproctologia (SBCP)false |
dc.title.none.fl_str_mv |
Current evidence for universal molecular testing for colorectal cancer patients |
title |
Current evidence for universal molecular testing for colorectal cancer patients |
spellingShingle |
Current evidence for universal molecular testing for colorectal cancer patients Campos,Fábio Guilherme Lynch Syndrome Genetics Screening Colorectal cancer Testing |
title_short |
Current evidence for universal molecular testing for colorectal cancer patients |
title_full |
Current evidence for universal molecular testing for colorectal cancer patients |
title_fullStr |
Current evidence for universal molecular testing for colorectal cancer patients |
title_full_unstemmed |
Current evidence for universal molecular testing for colorectal cancer patients |
title_sort |
Current evidence for universal molecular testing for colorectal cancer patients |
author |
Campos,Fábio Guilherme |
author_facet |
Campos,Fábio Guilherme Figueiredo,Marleny Novaes Martinez,Carlos Augusto Real |
author_role |
author |
author2 |
Figueiredo,Marleny Novaes Martinez,Carlos Augusto Real |
author2_role |
author author |
dc.contributor.author.fl_str_mv |
Campos,Fábio Guilherme Figueiredo,Marleny Novaes Martinez,Carlos Augusto Real |
dc.subject.por.fl_str_mv |
Lynch Syndrome Genetics Screening Colorectal cancer Testing |
topic |
Lynch Syndrome Genetics Screening Colorectal cancer Testing |
description |
Abstract Background Risk assessment for Lynch Syndrome may be a complex and challenging task. Demonstration of germline mutations has the benefits of confirming Lynch Syndrome diagnosis and may also provide screening and surgical orientation for affected members and relief for non-affected relatives. Objective The present paper aimed to critically review the criteria to diagnose Lynch Syndrome, focusing the attention on the new perspective of adopting universal screening for patients diagnosed with colorectal cancer. Methods We performed a literature review about the rationale and preliminary results of universal testing for Lynch Syndrome. Results The use of selective eligibility criteria to determine who should undergo Lynch Syndrome testing may fail in a substantial proportion of cases. Moreover, universal strategy is feasible, cost-effective and more sensitive than previous methods. However, there still exist problems regarding clinical practice implementation and compliance either by medical doctors and patients. Conclusions Standard guidelines for colorectal cancer screening are not ideal to provide early detection of Lynch Syndrome patients. And although universal screening has been associated with an increased identification of Lynch Syndrome patients, a successful implementation of this approach is still limited by the lack of clinical expertise among physicians, and also requires standardization of the existing protocols for routine genetic screening. |
publishDate |
2017 |
dc.date.none.fl_str_mv |
2017-09-01 |
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=S2237-93632017000300174 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2237-93632017000300174 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.1016/j.jcol.2017.06.003 |
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 Coloproctologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Coloproctologia |
dc.source.none.fl_str_mv |
Journal of Coloproctology (Rio de Janeiro) v.37 n.3 2017 reponame:Journal of Coloproctology (Rio de Janeiro. Online) instname:Sociedade Brasileira de Coloproctologia (SBCP) instacron:SBCP |
instname_str |
Sociedade Brasileira de Coloproctologia (SBCP) |
instacron_str |
SBCP |
institution |
SBCP |
reponame_str |
Journal of Coloproctology (Rio de Janeiro. Online) |
collection |
Journal of Coloproctology (Rio de Janeiro. Online) |
repository.name.fl_str_mv |
Journal of Coloproctology (Rio de Janeiro. Online) - Sociedade Brasileira de Coloproctologia (SBCP) |
repository.mail.fl_str_mv |
||sbcp@sbcp.org.br |
_version_ |
1752126477940293632 |