Article
High-resolution melting (HRM) re-analysis of a polyposis patients cohort reveals previously undetected heterozygous and mosaic APC gene mutations.
Familial cancer - 1 Jun 2015
Out Astrid A, van Minderhout Ivonne J H M, van der Stoep Nienke, van Bommel Lysette S R, Kluijt Irma, Aalfs Cora, Voorendt Marsha, Vossen Rolf H A M, Nielsen Maartje, Vasen Hans F A, Morreau Hans, Devilee Peter, Tops Carli M J, Hes Frederik J
Abstract excerpt
Familial adenomatous polyposis is most frequently caused by pathogenic variants in either the APC gene or the MUTYH gene. The detection rate of pathogenic variants depends on the severity of the phenotype and sensitivity of the screening method, including sensitivity for mosaic variants. For 171 patients with multiple colorectal polyps without previously detectable pathogenic variant, APC was reanalyzed in...
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