Mutación homocigota en la línea germinal del gen MUTYH en una paciente chilena con poliposis adenomatosa familiar / Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis
Rev. méd. Chile
;
140(11): 1457-1463, nov. 2012. ilus
Artigo
em Espanhol
| LILACS
| ID: lil-674014
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Mutação em Linhagem Germinativa
/
Polipose Adenomatosa do Colo
/
DNA Glicosilases
Tipo de estudo:
Estudo de etiologia
/
Estudo prognóstico
Limite:
Adulto
/
Feminino
/
Humanos
País/Região como assunto:
América do Sul
/
Chile
Idioma:
Espanhol
Revista:
Rev. méd. Chile
Assunto da revista:
Medicina
Ano de publicação:
2012
Tipo de documento:
Artigo
País de afiliação:
Chile
Instituição/País de afiliação:
Clínica Las Condes/CL
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