rs769921935
This variant is located in the CCND1 gene.
▶ClinVar annotation
▶Research that mentions this SNP (1)
▶Association between Aurora‐A kinase polymorphisms and age of onset of hereditary nonpolyposis colorectal cancer in a Caucasian populationAssociationN=125Chen J. et al.(2007)· Molecular Carcinogenesis
This study examined two Aurora-A kinase polymorphisms (91T-to-A/F31I and 169G-to-A/V57I) in 125 Caucasian hereditary nonpolyposis colorectal cancer (HNPCC) patients with mismatch repair gene mutations. The 91T-to-A polymorphism showed that homozygous wild-type (TT) carriers developed colorectal cancer 7 years earlier than carriers of the variant allele (HR=0.534, 95% CI=0.30-0.96, p=0.036), while the 169G-to-A polymorphism showed no significant effect. Haplotype analysis revealed the 91A-169G haplotype was protective (HR=1.86 for 91T-169G reference, p=0.018).
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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