Cáncer hereditario de colon: Aportes del diagnóstico genético molecular

Background: About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. Aim: To report the molecular and genetic study in two families with hereditary CC. Material and Methods: Molecular analys...

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Autores principales:	ARAVENA,TERESA, PASSALACQUA,CRISTÓBAL, CASTILLO TAUCHER,SILVIA
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2010
Materias:	Adenomatous polyposis coli Colonic neoplasms MLH 1 protein, human
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010001300009
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spelling	oai:scielo:S0034-988720100013000092011-02-07Cáncer hereditario de colon: Aportes del diagnóstico genético molecularARAVENA,TERESAPASSALACQUA,CRISTÓBALCASTILLO TAUCHER,SILVIA Adenomatous polyposis coli Colonic neoplasms MLH 1 protein, human Background: About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. Aim: To report the molecular and genetic study in two families with hereditary CC. Material and Methods: Molecular analysis of the adenomatous polyposis coli (APC) gene of familial adenomatous polyposis (FAP), was done in a patient with multiple benign polyps and his children. Molecular analysis was performed for MLH1 gene mutation of hereditary non-polyposis colon cancer (HNPCC) in an asymptomatic patient with family history of multiple cancers and his mother with a confrmed mutation in the MLH1 gene. Results: The patient with FAP had an insertion of 17 base pairs in exon 9 of the APC gene and two of his children had the same mutation. The patient with history of HNPCC did not have the family mutation on MLH1. Conclusions: In the case of FAP, molecular study was performed in his children since manifestations in carriers of the mutation may begin in childhood. If the second patient would have had the mutation, the study of his children could have been postponed until the age of 18, when the risk for CC is increased.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.138 n.12 20102010-12-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010001300009es10.4067/S0034-98872010001300009
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Adenomatous polyposis coli Colonic neoplasms MLH 1 protein, human
spellingShingle	Adenomatous polyposis coli Colonic neoplasms MLH 1 protein, human ARAVENA,TERESA PASSALACQUA,CRISTÓBAL CASTILLO TAUCHER,SILVIA Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
description	Background: About 30% of cases of colon cancer (CC) have a family history of CC, and only 5% are hereditary forms. Hereditary forms have an increased risk of CC and other tumors. Aim: To report the molecular and genetic study in two families with hereditary CC. Material and Methods: Molecular analysis of the adenomatous polyposis coli (APC) gene of familial adenomatous polyposis (FAP), was done in a patient with multiple benign polyps and his children. Molecular analysis was performed for MLH1 gene mutation of hereditary non-polyposis colon cancer (HNPCC) in an asymptomatic patient with family history of multiple cancers and his mother with a confrmed mutation in the MLH1 gene. Results: The patient with FAP had an insertion of 17 base pairs in exon 9 of the APC gene and two of his children had the same mutation. The patient with history of HNPCC did not have the family mutation on MLH1. Conclusions: In the case of FAP, molecular study was performed in his children since manifestations in carriers of the mutation may begin in childhood. If the second patient would have had the mutation, the study of his children could have been postponed until the age of 18, when the risk for CC is increased.
author	ARAVENA,TERESA PASSALACQUA,CRISTÓBAL CASTILLO TAUCHER,SILVIA
author_facet	ARAVENA,TERESA PASSALACQUA,CRISTÓBAL CASTILLO TAUCHER,SILVIA
author_sort	ARAVENA,TERESA
title	Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
title_short	Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
title_full	Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
title_fullStr	Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
title_full_unstemmed	Cáncer hereditario de colon: Aportes del diagnóstico genético molecular
title_sort	cáncer hereditario de colon: aportes del diagnóstico genético molecular
publisher	Sociedad Médica de Santiago
publishDate	2010
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872010001300009
work_keys_str_mv	AT aravenateresa cancerhereditariodecolonaportesdeldiagnosticogeneticomolecular AT passalacquacristobal cancerhereditariodecolonaportesdeldiagnosticogeneticomolecular AT castillotauchersilvia cancerhereditariodecolonaportesdeldiagnosticogeneticomolecular
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Cáncer hereditario de colon: Aportes del diagnóstico genético molecular

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