Article
Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
Human mutation - 1 Sept 2018
Mur Pilar, Jemth Ann-Sofie, Bevc Luka, Amaral Nuno, Navarro Matilde, Valdés-Mas Rafael, Pons Tirso, Aiza Gemma, Urioste Miguel, Valencia Alfonso, Lázaro Conxi, Moreno Victor, Puente Xose S, Stenmark Pål, Warpman-Berglund Ulrika, Capellá Gabriel, Helleday Thomas, Valle Laura
Abstract excerpt
The causal association of NUDT1 (=MTH1) and OGG1 with hereditary colorectal cancer (CRC) remains unclear. Here, we sought to provide additional evidence for or against the causal contribution of NUDT1 and OGG1 mutations to hereditary CRC and/or polyposis. Mutational screening was performed using pooled DNA amplification and targeted next-generation sequencing in 529 families (441 uncharacterized MMR-proficient...
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