Filling the gap: A thorough investigation for the genetic diagnosis of unsolved polyposis patients with monoallelic MUTYH pathogenic variants.
Anastasia Dell'EliceGiulia CiniMara FornasarigFranco ArmelaoDaniela BaranaFrancesca BianchiGuido Claudio Casalis CavalchiniAntonella MaffèIsabella MammiMonica PedroniAntonio PercesepeItalo SorrentiniMariagrazia TibilettiRoberta MaestroMichele QuaiaAlessandra VielPublished in: Molecular genetics & genomic medicine (2021)
Several efforts are necessary to fully elucidate the genetic etiology of suspected MAP patients, especially those with the most severe polyposis/tumor phenotype. Clinical data, tumor molecular profile, family history, and polyposis inheritance mode may guide variant interpretation and address supplementary studies.