rs7177
This is a downstream gene variant variant in the CCND1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Genetic variation in the immunosuppression pathway genes and breast cancer susceptibility: a pooled analysis of 42,510 cases and 40,577 controls from the Breast Cancer Association ConsortiumAssociationN=83,087Jieping Lei et al.(2016)· Human Genetics
A pooled analysis of 42,510 breast cancer cases and 40,577 controls from the Breast Cancer Association Consortium examined genetic variation in 3,595 SNPs across 133 immunosuppression pathway genes. The study identified SNP rs1905339 in STAT3 as significantly associated with increased breast cancer risk (OR 1.05, p=1.4×10⁻⁶). Gene-level analyses showed STAT3, IL5, and GM-CSF as novel susceptibility loci for breast cancer in women of European ancestry.
About CCND1
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of human cancers. [provided by RefSeq, Dec 2019]
View all CCND1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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