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- Title
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
- Authors
Pitroski, Carlos E; Cossio, Silvia Liliana; Koehler-Santos, Patrícia; Graudenz, Marcia; Prolla, João Carlos; Ashton-Prolla, Patricia
- Abstract
MUTYH-associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome associated with the development of colorectal tumors and colonic polyps at an early age. MAP syndrome is associated to germline biallelic mutations in the MUTYH gene which lead to deficient DNA repair through the base-excision repair system and accumulation of G:C→T:A transversions. Occurrence of such mutations in oncogenes and tumor suppressor genes drives colorectal carcinogenesis and is associated with the development of colonic polyps. Two common mutations, p.Y179C and p.G396D, are present in approximately 70-80% of MAP in European families with identified MUTYH germline mutations. The aim of this study was to assess the frequency of the germline MUTYH mutations p.Y179C and p.G396D in Brazilian patients with MAP and other hereditary colorectal cancer (CRC) phenotypes, as well as in sporadic CRC cases.
- Publication
International journal of colorectal disease, 2011, Vol 26, Issue 7, p841
- ISSN
1432-1262
- Publication type
Journal Article
- DOI
10.1007/s00384-011-1172-1