CCND1 OVEREXPRESSION Detail (hg19) (CCND1)

Information

Genome

Assembly Position
hg19 chr11:69,455,855-69,469,242
hg38 chr11:69,641,087-69,654,474 View the variant detail on this assembly version.
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 168461 OMIM
HGNC 1582 HGNC
Ensembl ENSG00000110092 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
mantle cell lymphoma Palbociclib B Predictive Does Not Support Sensitivity/Response Somatic 2 22383795 Detail
mantle cell lymphoma Palbociclib D Predictive Supports Sensitivity/Response Somatic 1 16690963 Detail
breast cancer B Diagnostic Supports Positive Somatic 4 15961768 Detail
breast cancer B Prognostic Supports Poor Outcome Somatic 4 15961768 Detail
head and neck squamous cell carcinoma B Prognostic Supports Poor Outcome Somatic 4 16309541 Detail
mantle cell lymphoma B Prognostic Supports Poor Outcome Somatic 4 17891190 Detail
estrogen-receptor positive breast cancer Tamoxifen B Predictive Supports Resistance N/A 3 15138475 Detail
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
A pharmacodynamic study (NCT00420056) of 17 mantle cell lymphoma MCL patients was performed using th... CIViC Evidence Detail
In Mantle Cell Lymphoma (MCL), t(11:14)-induced overexpression of cyclin D1 was targeted by CDK4/6 i... CIViC Evidence Detail
Cyclin D1 overexpression is associated with the ER-positive subtype of breast cancer. CIViC Evidence Detail
In ER-positive breast cancer patients, Cyclin D1 overexpression is associated with shorter overall s... CIViC Evidence Detail
Cyclin D1 overexpression is associated with shorter overall survival and increased metastasis in hea... CIViC Evidence Detail
Cyclin D1 overexpression is associated with shorter overall survival and increased metastasis in man... CIViC Evidence Detail
The authors performed a tissue microarray analysis of 167 postmenopausal breast cancers that had bee... CIViC Evidence Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
CCND1
Genome
hg19
Position
chr11:69,455,855-69,469,242
Variant Type
cnv
Variant (CIViC) (CIViC Variant)
OVEREXPRESSION
Transcript 1 (CIViC Variant)
ENST00000227507.2
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/20
Summary (CIViC Variant)
Cyclin D has been shown in many cancer types to be misregulated. Well established for their oncogenic properties, the cyclins and the cyclin-dependent kinases (CDK's) they activate have been the focus of major research and development efforts over the past decade. The methods by which the cyclins are misregulated are widely variable, and range from genomic amplification to promoter methylation changes. While Cyclin D2 has only been found to be significantly misregulated in glioma, Cyclin D1 in particular seems to be a pan-cancer actor. Cyclin D misregulation has been shown to lead to poorer outcomes in a number of studies, and currently there are no FDA-approved targeted therapies.
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