Article
First report of medulloblastoma in a patient with MUTYH-associated polyposis.
Neuropathology and applied neurobiology - 1 Aug 2023
Villy Marie-Charlotte, Warcoin Mathilde, Filser Mathilde, Buecher Bruno, Golmard Lisa, Suybeng Voreak, Schwartz Mathias, Bieche Ivan, Vacher Sophie, Laurence Valérie, Bourdeaut Franck, Bernier Michèle, Gutman Tom, Stoppa-Lyonnet Dominique, Masliah-Planchon Julien, Colas Chrystelle
Abstract excerpt
AIMS: The mutY DNA glycosylase encoded by the MUTYH gene prevents G:C → T:A transversions through the base excision repair DNA repair system. Germline biallelic pathogenic variants in MUTYH cause an adenomatous polyposis called MUTYH-associated polyposis (MAP), an autosomal recessive disease (OMIM: 608456), with an increased risk of colorectal cancer. Digestive lesions in this context show an excess of G:C → T:A...
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