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• W2034353187 abstract "<h3>Background:</h3> <i>MUTYH</i>-associated polyposis (MAP) is a recessive trait characterised by multiple colorectal adenomas and a high risk of colorectal cancer. <i>MUTYH</i> functions in the DNA base excision repair pathway and has a key role in the repair of oxidative DNA damage. <h3>Objectives:</h3> To assess the contribution of inherited variants in genes involved in base excision repair and oxidative DNA damage including <i>MUTYH</i>, <i>OGG1</i>, <i>NEIL1</i>, <i>NEIL2</i>, <i>NEIL3</i>, <i>NUDT1</i> and <i>NTH1</i> to the multiple colorectal adenoma phenotype. <h3>Methods:</h3> Inherited variants of <i>MUTYH</i>, <i>OGG1</i>, <i>NEIL1</i>, <i>NEIL2</i>, <i>NEIL3</i>, <i>NUDT1</i> and <i>NTH1</i> were sought in 167 unrelated patients with multiple colorectal adenomas whose family histories were consistent with recessive inheritance. These variants were also characterised in ∼300 population controls. <h3>Results:</h3> Thirty-three patients (20%) and no controls were <i>MUTYH</i> homozygotes or compound heterozygotes (ie, carried two mutations) and therefore had MAP. Eight different pathogenic <i>MUTYH</i> mutations were identified, of which four were novel. MAP cases had significantly more adenomas than non-MAP cases (p = 0.0009; exact test for trends in proportions) and presented earlier (p = 0.013; analysis of variance). Twenty-four protein-altering variants were identified upon screening of <i>OGG1</i>, <i>NEIL1</i>, <i>NEIL2</i>, <i>NEIL3</i>, <i>NUDT1</i> and <i>NTH1</i>. However, all combinations of two (or more) variants that were identified at an individual locus in patients were also seen in controls, and no variants were significantly over-represented (or under-represented) in cases. <h3>Conclusion:</h3> Multiple rare alleles of <i>MUTYH</i> are associated with autosomal recessive MAP, while <i>OGG1</i>, <i>NEIL1</i>, <i>NEIL2</i>, <i>NEIL3</i>, <i>NUDT1</i> and <i>NTH1</i> do not contribute significantly to autosomal recessive polyposis." @default.
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• W2034353187 date "2008-05-30" @default.
• W2034353187 modified "2023-10-18" @default.
• W2034353187 title "Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3" @default.
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• W2034353187 doi "https://doi.org/10.1136/gut.2007.145748" @default.
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