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Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype.
DE Melo, Flavia Marques; Bastos-Rodrigues, Luciana; Sarquis, Maria Marta; Friedman, Eitan; DE Marco, Luiz.
Afiliação
  • DE Melo FM; Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil.
  • Bastos-Rodrigues L; Department of Nutrition, Federal University of Minas Gerais, Belo Horizonte, Brazil.
  • Sarquis MM; Department of Medicine, Federal University of Minas Gerais, Belo Horizonte, Brazil.
  • Friedman E; The Susanne Levy Gertner Oncogenetics Unit, Chaim Sheba Medical Center, Tel-Hashomer, and the Sackler School of Medicine, Tel-Aviv University, Tel-Aviv, Israel.
  • DE Marco L; Department of Surgery, Federal University of Minas Gerais, Belo Horizonte, Brazil Ldemarco@ufmg.br.
Anticancer Res ; 38(6): 3683-3687, 2018 Jun.
Article em En | MEDLINE | ID: mdl-29848728
BACKGROUND/AIM: Familial multiple endocrine neoplasia type 1 (MEN1) is a rare disorder mostly associated with germline MEN1 mutations. MATERIALS AND METHODS: Genotyping of the MEN1, cyclin-dependent kinase inhibitor 1B (CDKN1B) and aryl hydrocarbon receptor-interacting protein (AIP) genes using Sanger sequencing was carried out in a family with MEN1 and the resulting germline variants genotyped in an additional 95 ethnically matched controls. RESULTS: A missense variant in AIP (p.Arg16His) gene and a truncating mutation (p.Gly111fs*8) in MEN1 gene were both detected in the proband and his father, showing limited co-segregation with phenotype. p.Arg16His AIP missense variant was detected in one control. CONCLUSION: There are conflicting data regarding the functional effects of AIP p.Arg16His and its role in disease development. We demonstrated the co-occurrence of p.Arg16His AIP missense variant in a patient with a bona fide MEN1 mutation. Our finding of p.Arg16His AIP in one of the 95 controls and its co-occurrence with MEN1 in a patient suggests that it is more likely that this variant is a rare polymorphism, unrelated to MEN1 pathogenesis.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas / Mutação em Linhagem Germinativa / Polimorfismo de Nucleotídeo Único / Peptídeos e Proteínas de Sinalização Intracelular Limite: Adult / Female / Humans / Male Idioma: En Revista: Anticancer Res Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Grécia

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Proteínas Proto-Oncogênicas / Mutação em Linhagem Germinativa / Polimorfismo de Nucleotídeo Único / Peptídeos e Proteínas de Sinalização Intracelular Limite: Adult / Female / Humans / Male Idioma: En Revista: Anticancer Res Ano de publicação: 2018 Tipo de documento: Article País de afiliação: Brasil País de publicação: Grécia