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Functional analysis of MUTYH mutated proteins associated with familial adenomatous polyposis

✍ Scribed by Vito G. D’Agostino; Anna Minoprio; Paola Torreri; Ilaria Marinoni; Cecilia Bossa; Tamara C. Petrucci; Alessandra M. Albertini; Guglielmina N. Ranzani; Margherita Bignami; Filomena Mazzei

Book ID
113568200
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
801 KB
Volume
9
Category
Article
ISSN
1568-7864

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MUTYH-associated polyposis (MAP) is a colorectal cancer syndrome, due to biallelic mutations of MUTYH. This Base Excision Repair gene encodes for a DNA glycosylase that specifically mitigates the high mutagenic potential of the 8-hydroxyguanine (8-oxodG) along the DNA. Aim of this study was to chara

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## Development of one hundred or more adenomas in the colon and rectum is diagnostic for the dominantly inherited, autosomal disease Familial Adenomatous Polyposis (FAP). It is possible to identify a mutation in the Adenomatous Polyposis Coli (APC) gene in approximately 80% of the patients, and alm