Article
Co-occurrence of MEN1 p.Gly111fs and AIP p.Arg16His Variants in Familial MEN1 Phenotype.
Anticancer research - 1 Jun 2018
DE Melo Flavia Marques, Bastos-Rodrigues Luciana, Sarquis Maria Marta, Friedman Eitan, DE Marco Luiz
Abstract excerpt
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...
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