title: [MYH associated polyposis: severe phenotype in the homozygosity for the 1103delC mutation].
abstract: MYH-associated polyposis (MAP) is an autosomal recessive disease associated with multiple colonic adenomas and colorectal cancer. Y165C and G382D MYH missense mutations are involved in more than 80% of cases in Caucasians and the large series published do not include patients homozygous for other mutations. We present the report of two siblings homozygous for the nonsense frameshift mutation 1103delC. The proband aged 28 presented with four colonic adenocarcinomas and 20-30 synchronous adenomas. Her sister aged 24 had 20 colonic adenomas and a severe Spigelman's III duodenal adenomatosis. Their parents, aged 60 and 51, heterozygous for the 1103delC MYH mutation, presented 5 and 2 low risk colorectal adenomas, respectively.
authors.affiliation: Serviço de Gastrenterologia, Centro de Investigação em Patologia Molecular, Instituto Português de Oncologia de Lisboa de Francisco Gentil, Lisboa.
authors.forename: Susana Mão
authors.initials: SM
authors.lastname: De Ferro
authors.forename: Pedro
authors.initials: P
authors.lastname: Lage
authors.forename: Alexandra
authors.initials: A
authors.lastname: Suspiro
authors.forename: Paulo
authors.initials: P
authors.lastname: Fidalgo
authors.forename: Sofia
authors.initials: S
authors.lastname: Fragoso
authors.forename: Célia
authors.initials: C
authors.lastname: Baltazar
authors.forename: Inês
authors.initials: I
authors.lastname: Vitoriano
authors.forename: Paula
authors.initials: P
authors.lastname: Rodrigues
authors.forename: Cristina
authors.initials: C
authors.lastname: Albuquerque
authors.forename: C Nobre
authors.initials: CN
authors.lastname: Leitão
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D000328:Adult; D045647:DNA Glycosylases / Q000235:genetics*; D005260:Female; D006720:Homozygote; D006801:Humans; D009154:Mutation; D010375:Pedigree; D010641:Phenotype; D012720:Severity of Illness Index
chemical_list: D045647:DNA Glycosylases; C061738:mutY adenine glycosylase