Germline variation in the oxidative DNA repair genes NUDT1 and OGG1 is not associated with hereditary colorectal cancer or polyposis

Association Between Germline Mutations in BRF1 , a Subunit of the RNA Polymerase III Transcription Complex, and Hereditary Colorectal Cancer

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Validation and development of MTH1 inhibitors for treatment of cancer

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dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs

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POLE and POLD1 mutations in 529 kindred with familial colorectal cancer and/or polyposis: review of reported cases and recommendations for genetic testing and surveillance

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

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A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer

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Tracing the fates of site-specifically introduced DNA adducts in the human genome

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Re: Role of the Oxidative DNA Damage Repair Gene OGG1 in Colorectal Tumorigenesis

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MTH1 inhibition eradicates cancer by preventing sanitation of the dNTP pool

(2014) Helge Gad et al.   NATURE

Genetic predisposition to colorectal cancer: Where we stand and future perspectives

(2014) Laura Valle   WORLD JOURNAL OF GASTROENTEROLOGY

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Analysis of the Oxidative Damage Repair Genes NUDT1, OGG1, and MUTYH in Patients from Mismatch Repair Proficient HNPCC Families (MSS-HNPCC)

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Crystal structure of human MTH1 and the 8-oxo-dGMP product complex

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First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

(2009) Prateek Kumar et al.   Nature Protocols

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

(2009) François-Olivier Desmet et al.   NUCLEIC ACIDS RESEARCH

Inherited predisposition to colorectal adenomas caused by multiple rare alleles of MUTYH but not OGG1, NUDT1, NTH1 or NEIL 1, 2 or 3

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Germline Allele-Specific Expression of TGFBR1 Confers an Increased Risk of Colorectal Cancer

(2008) L. Valle et al.   SCIENCE