rs114972508
This is a regulatory region variant variant in the EGFR gene.
▶Research that mentions this SNP (1)
▶Evaluation of vitamin D biosynthesis and pathway target genes reveals UGT2A1/2 and EGFR polymorphisms associated with epithelial ovarian cancer in African American WomenAssociationN=1,990Delores J. Grant et al.(2019)· Cancer Medicine
A candidate gene study of vitamin D biosynthesis and pathway genes in 755 African American epithelial ovarian cancer (EOC) cases and 1,235 controls identified significant associations with UGT2A1/2 SNP rs10017134 (OR=1.4, P=1.2×10⁻⁶) and EGFR SNP rs114972508 (OR=2.3, P=1.6×10⁻⁵) for high-grade serous ovarian cancer. These findings suggest EGFR and UGT2A1/2 variants may increase EOC susceptibility in African American women.
About EGFR
The protein encoded by this gene is a transmembrane glycoprotein that is a member of the protein kinase superfamily. This protein is a receptor for members of the epidermal growth factor family. EGFR is a cell surface protein that binds to epidermal growth factor, thus inducing receptor dimerization and tyrosine autophosphorylation leading to cell proliferation. Mutations in this gene are associated with lung cancer. EGFR is a component of the cytokine storm which contributes to a severe form of Coronavirus Disease 2019 (COVID-19) resulting from infection with severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2). [provided by RefSeq, Jul 2020]
View all EGFR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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