Need of new clinical criteria for the identification of genetic Lynch syndrome.
Autor(a) principal: | |
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Data de Publicação: | 2008 |
Outros Autores: | , , , , , , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
Texto Completo: | https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893 |
Resumo: | Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.We included 92 affected patients belonging to different families. Clinical criteria leading to HNPCC diagnosis were evaluated. Germ-line mutations in MLH1, MSH2 and MSH6 genes were performed by DGGE/MLPA and direct sequencing.Germ-line mutations were detected in 54/92 (59%) families, 30 in MLH1, 23 in MSH2 and 1 in MSH6. Germ-line mutation detection was significantly lower in ACI without age criteria (0%), when compared to: ACI (60%), ACII (62%), ACII without age criteria (67%) and BG (61%).The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC. |
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Need of new clinical criteria for the identification of genetic Lynch syndrome.Necessidade de novos critérios clínicos para a identificação de famílias com síndroma de Lynch em base genética.Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.We included 92 affected patients belonging to different families. Clinical criteria leading to HNPCC diagnosis were evaluated. Germ-line mutations in MLH1, MSH2 and MSH6 genes were performed by DGGE/MLPA and direct sequencing.Germ-line mutations were detected in 54/92 (59%) families, 30 in MLH1, 23 in MSH2 and 1 in MSH6. Germ-line mutation detection was significantly lower in ACI without age criteria (0%), when compared to: ACI (60%), ACII (62%), ACII without age criteria (67%) and BG (61%).The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC.Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.We included 92 affected patients belonging to different families. Clinical criteria leading to HNPCC diagnosis were evaluated. Germ-line mutations in MLH1, MSH2 and MSH6 genes were performed by DGGE/MLPA and direct sequencing.Germ-line mutations were detected in 54/92 (59%) families, 30 in MLH1, 23 in MSH2 and 1 in MSH6. Germ-line mutation detection was significantly lower in ACI without age criteria (0%), when compared to: ACI (60%), ACII (62%), ACII without age criteria (67%) and BG (61%).The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC.Ordem dos Médicos2008-02-13info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893oai:ojs.www.actamedicaportuguesa.com:article/893Acta Médica Portuguesa; Vol. 20 No. 6 (2007): November-December; 535-42Acta Médica Portuguesa; Vol. 20 N.º 6 (2007): Novembro-Dezembro; 535-421646-07580870-399Xreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAPporhttps://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893/567Sousa, RitaLage, PedroFerreira, SaraClaro, IsabelFrancisco, InêsFilipe, BrunoAlbuquerque, CristinaSuspiro, AlexandraRodrigues, PaulaNobre-Leitão, Carlosinfo:eu-repo/semantics/openAccess2022-12-20T10:57:07Zoai:ojs.www.actamedicaportuguesa.com:article/893Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T16:16:50.135154Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Need of new clinical criteria for the identification of genetic Lynch syndrome. Necessidade de novos critérios clínicos para a identificação de famílias com síndroma de Lynch em base genética. |
title |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
spellingShingle |
Need of new clinical criteria for the identification of genetic Lynch syndrome. Sousa, Rita |
title_short |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
title_full |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
title_fullStr |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
title_full_unstemmed |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
title_sort |
Need of new clinical criteria for the identification of genetic Lynch syndrome. |
author |
Sousa, Rita |
author_facet |
Sousa, Rita Lage, Pedro Ferreira, Sara Claro, Isabel Francisco, Inês Filipe, Bruno Albuquerque, Cristina Suspiro, Alexandra Rodrigues, Paula Nobre-Leitão, Carlos |
author_role |
author |
author2 |
Lage, Pedro Ferreira, Sara Claro, Isabel Francisco, Inês Filipe, Bruno Albuquerque, Cristina Suspiro, Alexandra Rodrigues, Paula Nobre-Leitão, Carlos |
author2_role |
author author author author author author author author author |
dc.contributor.author.fl_str_mv |
Sousa, Rita Lage, Pedro Ferreira, Sara Claro, Isabel Francisco, Inês Filipe, Bruno Albuquerque, Cristina Suspiro, Alexandra Rodrigues, Paula Nobre-Leitão, Carlos |
description |
Surveillance programs in families with Hereditary Non-Polyposis Colorectal Cancer (HNPCC), which is an autossomal dominant disease, decrease colorectal carcinoma mortality. There are multiple clinical criteria for the identification of these families, mainly: the Amsterdam Criteria (ACI), the modified Amsterdam Criteria (ACII) and the Bethesda Guidelines (BG).To correlate, in families with HNPCC, the clinical criteria with the probability of detecting a germ-line mutation in MLH1, MSH2 and MSH6 mismatch repair genes.We included 92 affected patients belonging to different families. Clinical criteria leading to HNPCC diagnosis were evaluated. Germ-line mutations in MLH1, MSH2 and MSH6 genes were performed by DGGE/MLPA and direct sequencing.Germ-line mutations were detected in 54/92 (59%) families, 30 in MLH1, 23 in MSH2 and 1 in MSH6. Germ-line mutation detection was significantly lower in ACI without age criteria (0%), when compared to: ACI (60%), ACII (62%), ACII without age criteria (67%) and BG (61%).The classic, modified AC and BG allowed the detection of an identical percentage of families with mutation positive HNPCC. The absence of the age criteria in the ACI makes the HNPCC diagnosis highly unlikely. Simpler and uniform criteria should be elaborated, to allow a homogeneous identification of families with HNPCC. |
publishDate |
2008 |
dc.date.none.fl_str_mv |
2008-02-13 |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893 oai:ojs.www.actamedicaportuguesa.com:article/893 |
url |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893 |
identifier_str_mv |
oai:ojs.www.actamedicaportuguesa.com:article/893 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893 https://www.actamedicaportuguesa.com/revista/index.php/amp/article/view/893/567 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Ordem dos Médicos |
publisher.none.fl_str_mv |
Ordem dos Médicos |
dc.source.none.fl_str_mv |
Acta Médica Portuguesa; Vol. 20 No. 6 (2007): November-December; 535-42 Acta Médica Portuguesa; Vol. 20 N.º 6 (2007): Novembro-Dezembro; 535-42 1646-0758 0870-399X reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
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Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
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