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Revista médica de Chile

versión impresa ISSN 0034-9887

Resumen

ALVAREZ, Karin et al. Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis. Rev. méd. Chile [online]. 2012, vol.140, n.11, pp.1457-1463. ISSN 0034-9887.  http://dx.doi.org/10.4067/S0034-98872012001100013.

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 : Adenomatous polyposis coli; DNA glycosylases; Genes, APC.

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