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.
| Original language | English |
|---|---|
| Article number | Article 83 |
| Journal | Frontiers in Oncology |
| Volume | 2 AUG |
| DOIs | |
| Publication status | Published - 2012 |
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Keywords
- Base excision repair (BER)
- Colorectal cancer (CRC)
- Familial adenomatous polyposis (FAP)
- Hereditary non-polyposis colorectal cancer (HNPCC)
- Mismatch repair (MMR)
- MUTYH-associated polyposis (MAP)
ASJC Scopus subject areas
- Cancer Research
- Oncology
Cite this
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.
In: Frontiers in Oncology, Vol. 2 AUG, Article 83, 2012.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - MUTYH-associated polyposis (MAP), the syndrome implicating base excision repair in inherited predisposition to colorectal tumors
AU - Venesio, Tiziana
AU - Balsamo, Antonella
AU - D'Agostino, Vito G.
AU - Ranzani, Guglielmina N.
PY - 2012
Y1 - 2012
N2 - 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.
AB - 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.
KW - Base excision repair (BER)
KW - Colorectal cancer (CRC)
KW - Familial adenomatous polyposis (FAP)
KW - Hereditary non-polyposis colorectal cancer (HNPCC)
KW - Mismatch repair (MMR)
KW - MUTYH-associated polyposis (MAP)
UR - http://www.scopus.com/inward/record.url?scp=84876293078&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=84876293078&partnerID=8YFLogxK
U2 - 10.3389/fonc.2012.0083
DO - 10.3389/fonc.2012.0083
M3 - Article
AN - SCOPUS:84876293078
VL - 2 AUG
JO - Frontiers in Oncology
JF - Frontiers in Oncology
SN - 2234-943X
M1 - Article 83
ER -