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MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors

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) i...

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Autores principales: Venesio, Tiziana, Balsamo, Antonella, D'Agostino, Vito G., Ranzani, Guglielmina N.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410368/
https://www.ncbi.nlm.nih.gov/pubmed/22876359
http://dx.doi.org/10.3389/fonc.2012.00083
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author Venesio, Tiziana
Balsamo, Antonella
D'Agostino, Vito G.
Ranzani, Guglielmina N.
author_facet Venesio, Tiziana
Balsamo, Antonella
D'Agostino, Vito G.
Ranzani, Guglielmina N.
author_sort Venesio, Tiziana
collection PubMed
description 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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spelling pubmed-34103682012-08-08 MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors Venesio, Tiziana Balsamo, Antonella D'Agostino, Vito G. Ranzani, Guglielmina N. Front Oncol Oncology 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. Frontiers Media S.A. 2012-08-02 /pmc/articles/PMC3410368/ /pubmed/22876359 http://dx.doi.org/10.3389/fonc.2012.00083 Text en Copyright © 2012 Venesio, Balsamo, D'Agostino and Ranzani. http://www.frontiersin.org/licenseagreement This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in other forums, provided the original authors and source are credited and subject to any copyright notices concerning any third-party graphics etc.
spellingShingle Oncology
Venesio, Tiziana
Balsamo, Antonella
D'Agostino, Vito G.
Ranzani, Guglielmina N.
MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title_full MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title_fullStr MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title_full_unstemmed MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title_short MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
title_sort mutyh-associated polyposis (map), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
topic Oncology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3410368/
https://www.ncbi.nlm.nih.gov/pubmed/22876359
http://dx.doi.org/10.3389/fonc.2012.00083
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