rs7689099

This variant is located in the NEIL3 gene.

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ClinVar annotation

Benign★☆☆☆
1 submitter1 publication

not specified

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Research that mentions this SNP (1)

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Associations of Lys939Gln and Ala499Val polymorphisms of theXPCgene with cancer susceptibility: A meta-analysis
ReviewJing He et al.(2013)· International Journal of Cancer

This review examines the role of oxidative DNA damage and its repair via base excision repair (BER) glycosylases (hOGG1, MUTYH, NEIL1-3, NTH1) in sporadic colorectal cancer (CRC) pathogenesis, prognosis, and treatment. The authors discuss hereditary syndromes (MUTYH-associated polyposis, NTHL1-associated tumor syndrome) that provide direct evidence linking oxidative DNA damage to CRC, and review conflicting evidence on common variants such as hOGG1 Ser326Cys and MUTYH polymorphisms in sporadic CRC risk. They also address the contribution of intestinal dysbiosis to oxidative damage and potential therapeutic strategies targeting DNA repair pathways.

Traits studied:Colon cancerColorectal cancerMUTYH-associated polyposisNTHL1-associated tumor syndromeRectal cancer

About NEIL3

NEIL3 belongs to a class of DNA glycosylases homologous to the bacterial Fpg/Nei family. These glycosylases initiate the first step in base excision repair by cleaving bases damaged by reactive oxygen species and introducing a DNA strand break via the associated lyase reaction (Bandaru et al., 2002 [PubMed 12509226]).[supplied by OMIM, Mar 2008]

View all NEIL3 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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