Article
Frequency of the common germline MUTYH mutations p.G396D and p.Y179C in patients diagnosed with colorectal cancer in Southern Brazil.
International journal of colorectal disease - 1 Jul 2011
Pitroski Carlos E, Cossio Silvia Liliana, Koehler-Santos Patrícia, Graudenz Marcia, Prolla João Carlos, Ashton-Prolla Patricia
Abstract excerpt
INTRODUCTION: 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...
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