mutyh-associated polyposis (map), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
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2012
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Abstract
In 2002, Al-Tassan and co-workers described for the first time a recessive form of inherited polyposis associated with germline mutations of MUTYH, a gene encoding a base excision repair (BER) protein that counteracts the DNA damage induced by the oxidative stress. MUTYH-associated polyposis (MAP) is now a well-defined cancer susceptibility syndrome, showing peculiar molecular features that characterize disease progression. However, some aspects of MAP, including diagnostic criteria, genotype-phenotype correlations, pathogenicity of variants, as well as relationships between BER and other DNA repair pathways, are still poorly understood. A deeper knowledge of the MUTYH expression pattern is likely to refine our understanding of the protein role and, finally, to improve guidances for identifying and handling MAP patients.
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evenesio2012frontiersmutyh-associated
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| Authors | ;Tiziana eVenesio;Antonella eBalsamo;Vito eD'Agostino;Guglielmina Nadia Ranzani |
| Journal | international journal of heat and technology |
| Year | 2012 |
| DOI |
10.3389/fonc.2012.00083
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