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Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis.
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 familial nonpolyposis CRC and 88 polyposis cases). Cosegregation, in silico analyses, in vitro functional assays, and case-control associations were carried out to characterize the identified variants. Five heterozygous carriers of novel (n = 1) or rare (n = 4) NUDT1 variants were identified. In vitro deleterious effects were demonstrated for c.143G>A p.G48E (catalytic activity and protein stability) and c.403G>T p.G135W (protein stability), although cosegregation data in the carrier families were inconclusive or nonsupportive. The frequency of missense, loss-of-function, and splice-site NUDT1 variants in our familial CRC cohort was similar to the one observed in cancer-free individuals, suggesting lack of association with CRC predisposition. No OGG1 pathogenic mutations were identified. Our results suggest that the contribution of NUDT1 and OGG1 germline mutations to hereditary CRC and to polyposis is inexistent or, at most, negligible. The inclusion of these genes in routine genetic testing is not recommended.
Authors : 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 ,
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WP2291: Deregulation of Rab and Rab Effector Genes in Bladder Cancer
WP1003: Ovarian Infertility Genes
WP1035: Mismatch repair
WP1050: Oxidative Stress
WP1059: Diurnally regulated genes with circadian orthologs
WP1110: Oxidative phosphorylation
WP1120: Ovarian Infertility Genes
WP1152: Mismatch repair
WP1166: Oxidative Stress
WP1175: Diurnally regulated genes with circadian orthologs
WP1204: Mismatch repair
WP1215: Mismatch repair
WP1233: Mismatch repair
WP1248: Oxidative phosphorylation
WP1257: Mismatch repair
WP1268: Diurnally regulated genes with circadian orthologs
WP1283: Oxidative phosphorylation
WP1295: Mismatch repair
WP1306: Diurnally regulated genes with circadian orthologs
WP1335: Oxidative phosphorylation
WP1340: Ovarian Infertility Genes
WP1361: Mismatch repair
WP1372: Oxidative Stress
WP1379: Diurnally regulated genes with circadian orthologs
WP1496: Oxidative Damage
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