Article
Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Molecular genetics & genomic medicine - 1 Dec 2021
Dell'Elice Anastasia, Cini Giulia, Fornasarig Mara, Armelao Franco, Barana Daniela, Bianchi Francesca, Casalis Cavalchini Guido Claudio, Maffè Antonella, Mammi Isabella, Pedroni Monica, Percesepe Antonio, Sorrentini Italo, Tibiletti Mariagrazia, Maestro Roberta, Quaia Michele, Viel Alessandra
Abstract excerpt
BACKGROUNDS: MUTYH-associated polyposis (MAP) is an autosomal recessive disease caused by biallelic pathogenic variants (PV) of the MUTYH gene. The aim of this study was to investigate the genetic causes of unexplained polyposis patients with monoallelic MUTYH PV. The analysis focused on 26 patients with suspected MAP, belonging to 23 families. Ten probands carried also one or more additional MUTYH variants of...
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