Síndrome de Lynch: Caracterización genético clínica. Caso clínico

Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch Syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. Mutations in MLH1 and MSH2 genes account for most cases. These two genes particípate in the DNA mismatch repair pathway. Therefore mutation carrier...

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Autores principales:	Zárate,Alejandro, Álvarez,Karin, Wielandt,Ana María, Hevia,Montserrat, De la Fuente,Marjorie, Carvallo,Pilar, López-Köstner,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2008
Materias:	Colorectal neoplasms, hereditary nonpolyposis MLH1 protein, human MSH2 protein, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600011
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spelling	oai:scielo:S0034-988720080006000112008-08-27Síndrome de Lynch: Caracterización genético clínica. Caso clínicoZárate,AlejandroÁlvarez,KarinWielandt,Ana MaríaHevia,MontserratDe la Fuente,MarjorieCarvallo,PilarLópez-Köstner,Francisco Colorectal neoplasms, hereditary nonpolyposis MLH1 protein, human MSH2 protein, human Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch Syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. Mutations in MLH1 and MSH2 genes account for most cases. These two genes particípate in the DNA mismatch repair pathway. Therefore mutation carriers show microsatellite instability (MSI) in tumors. This syndrome is characterized by the early development of colorectal cancer (before 50 years) and an increased incidence of cancer in other organs. We report four siblings from a family diagnosed with HNPCC. All of them were subjected to colonic surgery for colorectal cancer Moreover, one patient developed an ampulloma after her colon surgery. The molecular-genetic analysis revealed three brothers with microsatellite instability in the tumor tissue, the absence of the MLH1 protein, and the presence of a germ Une mutation localized in introm 15 ofthe MLH1 geneinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.136 n.6 20082008-06-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600011es10.4067/S0034-98872008000600011
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Colorectal neoplasms, hereditary nonpolyposis MLH1 protein, human MSH2 protein, human
spellingShingle	Colorectal neoplasms, hereditary nonpolyposis MLH1 protein, human MSH2 protein, human Zárate,Alejandro Álvarez,Karin Wielandt,Ana María Hevia,Montserrat De la Fuente,Marjorie Carvallo,Pilar López-Köstner,Francisco Síndrome de Lynch: Caracterización genético clínica. Caso clínico
description	Hereditary non-polyposis colorectal cancer (HNPCC) or Lynch Syndrome is an autosomic dominant syndrome involving 596-1096 of colorectal cancer patients. Mutations in MLH1 and MSH2 genes account for most cases. These two genes particípate in the DNA mismatch repair pathway. Therefore mutation carriers show microsatellite instability (MSI) in tumors. This syndrome is characterized by the early development of colorectal cancer (before 50 years) and an increased incidence of cancer in other organs. We report four siblings from a family diagnosed with HNPCC. All of them were subjected to colonic surgery for colorectal cancer Moreover, one patient developed an ampulloma after her colon surgery. The molecular-genetic analysis revealed three brothers with microsatellite instability in the tumor tissue, the absence of the MLH1 protein, and the presence of a germ Une mutation localized in introm 15 ofthe MLH1 gene
author	Zárate,Alejandro Álvarez,Karin Wielandt,Ana María Hevia,Montserrat De la Fuente,Marjorie Carvallo,Pilar López-Köstner,Francisco
author_facet	Zárate,Alejandro Álvarez,Karin Wielandt,Ana María Hevia,Montserrat De la Fuente,Marjorie Carvallo,Pilar López-Köstner,Francisco
author_sort	Zárate,Alejandro
title	Síndrome de Lynch: Caracterización genético clínica. Caso clínico
title_short	Síndrome de Lynch: Caracterización genético clínica. Caso clínico
title_full	Síndrome de Lynch: Caracterización genético clínica. Caso clínico
title_fullStr	Síndrome de Lynch: Caracterización genético clínica. Caso clínico
title_full_unstemmed	Síndrome de Lynch: Caracterización genético clínica. Caso clínico
title_sort	síndrome de lynch: caracterización genético clínica. caso clínico
publisher	Sociedad Médica de Santiago
publishDate	2008
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872008000600011
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Síndrome de Lynch: Caracterización genético clínica. Caso clínico

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