Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1

Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To screen mutations in FAP and HNPCC families in Chile. Materials...

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Autores principales:	Bellolio R,Felipe, Álvarez V,Karin, Fuente L,Marjorie De la, León G,Francisca, Fullerton M,Demian A, Soto D,Gonzalo, Carvallo de SQ,Pilar, López-Köstner,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2006
Materias:	Adenomatous Polyposis Coli Colorectal neoplasms Colorectal neoplasms, Hereditary non polyposis Germ-line mutation
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006000700006
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spelling	oai:scielo:S0034-988720060007000062006-08-29Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1Bellolio R,FelipeÁlvarez V,KarinFuente L,Marjorie De laLeón G,FranciscaFullerton M,Demian ASoto D,GonzaloCarvallo de SQ,PilarLópez-Köstner,Francisco Adenomatous Polyposis Coli Colorectal neoplasms Colorectal neoplasms, Hereditary non polyposis Germ-line mutation Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To screen mutations in FAP and HNPCC families in Chile. Materials and Methods: Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed through polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein. Results: In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA. Discussion: Germ-line mutations were identified in the three families. The relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosisinfo:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.134 n.7 20062006-07-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006000700006es10.4067/S0034-98872006000700006
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Adenomatous Polyposis Coli Colorectal neoplasms Colorectal neoplasms, Hereditary non polyposis Germ-line mutation
spellingShingle	Adenomatous Polyposis Coli Colorectal neoplasms Colorectal neoplasms, Hereditary non polyposis Germ-line mutation Bellolio R,Felipe Álvarez V,Karin Fuente L,Marjorie De la León G,Francisca Fullerton M,Demian A Soto D,Gonzalo Carvallo de SQ,Pilar López-Köstner,Francisco Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
description	Background: Among colorectal cancer hereditary variants, two syndromes show a predisposition to the disease based on germline mutations: Familial Adenomatous Polyposis (FAP) and Hereditary Nonpolyposis Colorectal Cancer (HNPCC). Aim: To screen mutations in FAP and HNPCC families in Chile. Materials and Methods: Two FAP and one HNPCC families were studied. The APC gene (for FAP patients) and the MLH1 gene (for HNPCC patients), were screened for mutations on genomic DNA. The molecular analysis was performed through polymerase chain reaction, Single Strand Conformer Polymorphism (SSCP) and DNA sequencing. Mutations were defined as changes in the DNA sequence leading into a stop codon and a truncated protein. Results: In the two FAP families the analysis revealed a mutation consisting in the deletion of five nucleotides named c.3927_3931delAAAGA. The genetic study of the HNPCC family demonstrated the insertion of one adenine in codon 168 of exon 6, named c.504insA. Discussion: Germ-line mutations were identified in the three families. The relevance of these studies in a better knowledge of cancer susceptibility, and the possibility of identifying in relatives in risk by molecular diagnosis
author	Bellolio R,Felipe Álvarez V,Karin Fuente L,Marjorie De la León G,Francisca Fullerton M,Demian A Soto D,Gonzalo Carvallo de SQ,Pilar López-Köstner,Francisco
author_facet	Bellolio R,Felipe Álvarez V,Karin Fuente L,Marjorie De la León G,Francisca Fullerton M,Demian A Soto D,Gonzalo Carvallo de SQ,Pilar López-Köstner,Francisco
author_sort	Bellolio R,Felipe
title	Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
title_short	Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
title_full	Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
title_fullStr	Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
title_full_unstemmed	Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1
title_sort	cáncer colorrectal hereditario: análisis molecular de los genes apc y mlh1
publisher	Sociedad Médica de Santiago
publishDate	2006
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872006000700006
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Cáncer colorrectal hereditario: análisis molecular de los genes APC y MLH1

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