Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil
作者： Carlos E. Pitroski , Silvia Liliana Cossio , Patrícia Koehler-Santos , Marcia Graudenz , João Carlos Prolla
DOI: 10.1007/S00384-011-1172-1
关键词:
摘要: Introduction MUTYH-associated polyposis (MAP) is an autosomal recessive cancer predisposition syndrome associated with the development of colorectal tumors and colonic polyps at early age. MAP to germline biallelic mutations in MUTYH gene which lead deficient DNA repair through base-excision system accumulation G:C→T:A transversions. Occurrence such oncogenes tumor suppressor genes drives carcinogenesis polyps. Two common mutations, p.Y179C p.G396D, are present approximately 70–80% European families identified mutations. The aim this study was assess frequency p.G396D Brazilian patients other hereditary (CRC) phenotypes, as well sporadic CRC cases.
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