rs4647707
This is a regulatory region variant variant in the DDB2 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variations in vitamin D-related pathways and breast cancer risk in African American women in the AMBER consortiumAssociationN=8,350Song Yao et al.(2016)· International Journal of Cancer
A case-control study of 3,663 African American women with breast cancer and 4,687 controls from the AMBER consortium examined associations between vitamin D-related genetic variants and breast cancer risk. The study identified several variants in genes including CASR, ERCC6, DDB2, and REV1 associated with breast cancer risk overall and by estrogen receptor status. Notable findings include rs9308822 (REV1, OR=0.86, p=1.1×10⁻⁴) for overall breast cancer, rs114723899 (ERCC6, OR=0.62, p=4.3×10⁻⁵) for ER+ breast cancer, and rs112594756 (CASR, OR=1.27, p=7.3×10⁻⁵) associated with ER-negative disease.
About DDB2
This gene encodes a protein that is necessary for the repair of ultraviolet light-damaged DNA. This protein is the smaller subunit of a heterodimeric protein complex that participates in nucleotide excision repair, and this complex mediates the ubiquitylation of histones H3 and H4, which facilitates the cellular response to DNA damage. This subunit appears to be required for DNA binding. Mutations in this gene cause xeroderma pigmentosum complementation group E, a recessive disease that is characterized by an increased sensitivity to UV light and a high predisposition for skin cancer development, in some cases accompanied by neurological abnormalities. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2014]
View all DDB2 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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