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Article

MUTYH c.933+3A>C, associated with a severely impaired gene expression, is the first Italian founder mutation in MUTYH-Associated Polyposis.

International journal of cancer - 1 Mar 2013

Pin Elisa, Pastrello Chiara, Tricarico Rossella, Papi Laura, Quaia Michele, Fornasarig Mara, Carnevali Ileana, Oliani Cristina, Fornasin Alessio, Agostini Marco, Maestro Roberta, Barana Daniela, Aretz Stefan, Genuardi Maurizio, Viel Alessandra

Abstract excerpt

MUTYH variants are differently distributed in geographical areas of the world. In MUTYH-associated polyposis (MAP) patients from North-Eastern Italy, c.933+3A>C (IVS10+3A>C), a transversion causing an aberrant splicing process, accounts for nearly 1/5 of all mutations. The aim of this study was to verify whether its high frequency in North-Eastern Italy is due to a founder effect and to clarify its impact on...

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PMID: 22865608
DOI: 10.1002/ijc.27761

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MUTYH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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