Title |
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
|
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Published in |
Frontiers in oncology, January 2012
|
DOI | 10.3389/fonc.2012.00083 |
Pubmed ID | |
Authors |
Tiziana Venesio, Antonella Balsamo, Vito G. D'Agostino, Guglielmina N. Ranzani |
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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Geographical breakdown
Country | Count | As % |
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Unknown | 1 | 100% |
Demographic breakdown
Type | Count | As % |
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Members of the public | 1 | 100% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
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Unknown | 51 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
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Student > Bachelor | 9 | 18% |
Student > Master | 8 | 16% |
Researcher | 6 | 12% |
Unspecified | 5 | 10% |
Student > Doctoral Student | 3 | 6% |
Other | 6 | 12% |
Unknown | 14 | 27% |
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Agricultural and Biological Sciences | 9 | 18% |
Biochemistry, Genetics and Molecular Biology | 7 | 14% |
Unspecified | 5 | 10% |
Chemistry | 4 | 8% |
Other | 1 | 2% |
Unknown | 14 | 27% |