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
Article
en Es
| LILACS
| ID: lil-674014
Biblioteca responsable:
CL1.1
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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
LILACS
Asunto principal:
Mutación de Línea Germinal
/
Poliposis Adenomatosa del Colon
/
ADN Glicosilasas
Tipo de estudio:
Etiology_studies
/
Prognostic_studies
Límite:
Adult
/
Female
/
Humans
País/Región como asunto:
America do sul
/
Chile
Idioma:
Es
Revista:
Rev. méd. Chile
Asunto de la revista:
MEDICINA
Año:
2012
Tipo del documento:
Article
País de afiliación:
Chile
Pais de publicación:
Chile