mutyh-associated polyposis (map), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
Clicks: 167
ID: 156013
2012
Article Quality & Performance Metrics
Overall Quality
Improving Quality
0.0
/100
Combines engagement data with AI-assessed academic quality
Reader Engagement
Popular Article
30.0
/100
166 views
19 readers
Trending
AI Quality Assessment
Not analyzed
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.
| Reference Key |
evenesio2012frontiersmutyh-associated
Use this key to autocite in the manuscript while using
SciMatic Manuscript Manager or Thesis Manager
|
|---|---|
| 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
|
| URL | |
| Keywords |
Citations
No citations found. To add a citation, contact the admin at info@scimatic.org
Comments
No comments yet. Be the first to comment on this article.