CCND1 AMPLIFICATION 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 | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| skin melanoma | Paclitaxel,Carboplatin,Sorafenib | B |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 26307133 | Detail |
| renal cell carcinoma | Palbociclib | D |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 2 | 23898052 | Detail |
| breast cancer | Palbociclib | D |
Predictive
|
Supports
|
Sensitivity/Response | Somatic | 2 | 19874578 | Detail |
| ovarian cancer | Palbociclib | D |
Predictive
|
Does Not Support
|
Sensitivity/Response | Somatic | 3 | 21278246 | Detail |
| lung non-small cell carcinoma | B |
Prognostic
|
Supports
|
Poor Outcome | Somatic | 3 | 17070615 | Detail | |
| breast cancer | Tamoxifen | B |
Predictive
|
Does Not Support
|
Resistance | Somatic | 3 | 24367492 | Detail |
DisGeNET
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Retrospective analysis of somatic mutations and copy number changes in 119 patient treated with carb... | CIViC Evidence | Detail |
| 28 renal cell carcinoma cell lines were tested for sensitivity to CDK4/6 inhibitor Palbociclib (PD03... | CIViC Evidence | Detail |
| A panel of 47 breast cancer cell lines was tested for sensitivty/resistance to CDK4/6 inhibitor Palb... | CIViC Evidence | Detail |
| A panel of 40 ovarian cancer cell lines with varied mutation profiles was assayed for sensitivity to... | CIViC Evidence | Detail |
| Inceased copy number of CCND1 is associated with poorer overall survival. | CIViC Evidence | Detail |
| In this retrospective analysis, CCND1 amplification was analyzed in 442 patients. No interaction wit... | 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)
- AMPLIFICATION
- Transcript 1 (CIViC Variant)
- ENST00000227507.2
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/18
- Summary (CIViC Variant)
- CCND1 amplification has been implicated in poorer prognosis in non-small cell lung cancer.
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