rs3761936

This variant is located in the DCLRE1B gene.

ClinVar annotation

Benign★★★
4 submitters2 publications

Hoyeraal-Hreidarsson syndrome;Autosomal recessive dyskeratosis congenita; not provided; not specified

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Research that mentions this SNP (1)

Genetic Susceptibility to Cancer
Meta-analysisN=3,551Linda M. Dong et al.(2008)· JAMA

A systematic review and meta-analysis of 161 published meta-analyses evaluating 344 gene-variant/cancer associations across 99 genes and 18 cancer sites. The authors calculated false-positive report probability (FPRP) values to evaluate the robustness of statistically significant findings (p<0.05). The most noteworthy associations at very low prior probability were GSTM1 null with bladder cancer (OR: 1.5, p=1.9×10-14), NAT2 slow acetylator with bladder cancer (OR: 1.46, p=2.5×10-7), MTHFR C677T with gastric cancer (OR: 1.52, p=4.9×10-8), and GSTM1 null with acute leukemia (OR: 1.20, p=8.6×10-15). Phase II metabolizing enzymes, particularly GSTM1 deletion, showed the most consistent and highly significant associations with cancer risk.

Traits studied:Bladder cancerBreast cancerCervical cancerColorectal cancerEsophageal cancerGastric cancerGliomaHead and neck cancerHepatocellular carcinomaLeukemia (acute)Lung cancerMeningiomaNon-Hodgkin lymphomaOvarian cancerProstate cancerSkin cancer (non-melanoma)Upper digestive tract cancerUrothelial cancer

About DCLRE1B

DNA interstrand cross-links prevent strand separation, thereby physically blocking transcription, replication, and segregation of DNA. DCLRE1B is one of several evolutionarily conserved genes involved in repair of interstrand cross-links (Dronkert et al., 2000 [PubMed 10848582]).[supplied by OMIM, Mar 2008]

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Gene information from NCBI Gene. Variant classifications from ClinVar.

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