Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar

Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations...

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Autores principales:	Álvarez,Karin, de la Fuente,Marjorie, Orellana,Paulina, Wielandt,Ana María, Heine,Claudio, Suazo,Cristóbal, Kronberg,Udo, Carvallo,Pilar, López-Köstner,Francisco
Lenguaje:	Spanish / Castilian
Publicado:	Sociedad Médica de Santiago 2012
Materias:	Adenomatous polyposis coli DNA glycosylases Genes, APC
Acceso en línea:	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012001100013
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id	oai:scielo:S0034-98872012001100013
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spelling	oai:scielo:S0034-988720120011000132013-05-07Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiarÁlvarez,Karinde la Fuente,MarjorieOrellana,PaulinaWielandt,Ana MaríaHeine,ClaudioSuazo,CristóbalKronberg,UdoCarvallo,PilarLópez-Köstner,Francisco Adenomatous polyposis coli DNA glycosylases Genes, APC Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.info:eu-repo/semantics/openAccessSociedad Médica de SantiagoRevista médica de Chile v.140 n.11 20122012-11-01text/htmlhttp://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012001100013es10.4067/S0034-98872012001100013
institution	Scielo Chile
collection	Scielo Chile
language	Spanish / Castilian
topic	Adenomatous polyposis coli DNA glycosylases Genes, APC
spellingShingle	Adenomatous polyposis coli DNA glycosylases Genes, APC Álvarez,Karin de la Fuente,Marjorie Orellana,Paulina Wielandt,Ana María Heine,Claudio Suazo,Cristóbal Kronberg,Udo Carvallo,Pilar López-Köstner,Francisco Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
description	Recently, MUTYH mutations have been reported to predispose to the development of polyposis. However, polyposis caused by mutations in MUTYH has been characterized as an autosomal recessive hereditary disease, different from the autosomal dominant pattern observed in polyposis caused by APC mutations. We report a 41-year-old female consulting for anemia. Colonoscopy detected multiple sessile polyps and a cecal carcinoma. The patient was operated and in the surgical piece, the tumor invaded serosa and there was lymph node involvement. Approximately 100 polyps were found. The patient received 5-fluorouracil, as adjuvant therapy. The patient had a sister (of a total of 12 brothers) with a colorectal carcinoma. The genetic study identified a homozygous mutation of the MUTYH gene, called c.340T > C, that produces an amino acid change of tyrosine for histidine called p.Y114H. The sister with colorectal cancer was a heterozygous carrier of this mutation.
author	Álvarez,Karin de la Fuente,Marjorie Orellana,Paulina Wielandt,Ana María Heine,Claudio Suazo,Cristóbal Kronberg,Udo Carvallo,Pilar López-Köstner,Francisco
author_facet	Álvarez,Karin de la Fuente,Marjorie Orellana,Paulina Wielandt,Ana María Heine,Claudio Suazo,Cristóbal Kronberg,Udo Carvallo,Pilar López-Köstner,Francisco
author_sort	Álvarez,Karin
title	Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
title_short	Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
title_full	Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
title_fullStr	Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
title_full_unstemmed	Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar
title_sort	mutación homocigota en la línea germinal del gen mutyh en una paciente chilena con poliposis adenomatosa familiar
publisher	Sociedad Médica de Santiago
publishDate	2012
url	http://www.scielo.cl/scielo.php?script=sci_arttext&pid=S0034-98872012001100013
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Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar

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