title: [Homozygous germline mutation in MUTYH gene in familial adenomatous polyposis].
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.
authors.affiliation: Laboratorio de Oncología y Genética Molecular, Unidad de Coloproctología, Clínica Las Condes, Santiago, Chile.
authors.forename: Karin
authors.initials: K
authors.lastname: Alvarez
authors.forename: Marjorie de la
authors.initials: Mde L
authors.lastname: Fuente
authors.forename: Paulina
authors.initials: P
authors.lastname: Orellana
authors.forename: Ana María
authors.initials: AM
authors.lastname: Wielandt
authors.forename: Claudio
authors.initials: C
authors.lastname: Heine
authors.forename: Cristóbal
authors.initials: C
authors.lastname: Suazo
authors.forename: Udo
authors.initials: U
authors.lastname: Kronberg
authors.forename: Pilar
authors.initials: P
authors.lastname: Carvallo
authors.forename: Francisco
authors.initials: F
authors.lastname: López-Köstner
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000209:etiology; D018095:Germ-Line Mutation / Q000235:genetics*; D006720:Homozygote; D006801:Humans; D010375:Pedigree; D016133:Polymerase Chain Reaction
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase