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Article

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

European journal of cancer (Oxford, England : 1990) - 1 May 2011

Morak Monika, Massdorf Trisari, Sykora Helena, Kerscher Martina, Holinski-Feder Elke

Abstract excerpt

Biallelic mutations in the base excision repair gene Mut Y homologue (MUTYH) are responsible for variable recessively inherited phenotypes of polyposis. Beside MUTYH, the proteins 8-oxo-guanine DNA glycosylase (OGG1) and MTH1 (or NUDT1) are also involved in the repair of 7,8-dihydro-8-oxoguanine (8-oxo-G), previous studies, however, only found missense mutations of unclear pathogenicity in either MTH1 or OGG1. To...

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Source

Identifiers

PMID: 21195604
DOI: 10.1016/j.ejca.2010.11.016

Genes

MUTYH
OGG1
APC
NUDT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

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First evidence for digenic inheritance in hereditary colorectal cancer by mutations in the base excision repair genes.PMID 21195604Read ↗

Role of the oxidative DNA damage repair gene OGG1 in colorectal tumorigenesis.Semantic proximity Read ↗

Germline susceptibility to colorectal cancer due to base-excision repair gene defects.Semantic proximity Read ↗

Role of MUTYH in human cancer.Semantic proximity Read ↗

Oxidative Damage in Sporadic Colorectal Cancer: Molecular Mapping of Base Excision Repair Glycosylases in Colorectal Cancer PatientsSemantic proximity Read ↗

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells.Semantic proximity Read ↗

MUTYH-associated polyposis--from defect in base excision repair to clinical genetic testing.Semantic proximity Read ↗

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

DNA repair of oxidative DNA damage in human carcinogenesis: potential application for cancer risk assessment and prevention.Semantic proximity Read ↗

MUTYH DNA glycosylase: the rationale for removing undamaged bases from the DNASemantic proximity Read ↗

Inherited <i>MUTYH</i> mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cellsSemantic proximity Read ↗

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants.Semantic proximity Read ↗

Analysis of the oxidative damage repair genes NUDT1, OGG1, and MUTYH in patients from mismatch repair proficient HNPCC families (MSS-HNPCC).Semantic proximity Read ↗

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