CCND1, cyclin D1, 595

N. diseases: 859; N. variants: 12
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C1858438
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C3805838
Disease:
VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C3810481
Disease:
MULTIPLE MYELOMA, t(11;14) TYPE, SUSCEPTIBILITY TO
A 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE <b>Results:</b> Overall, the cumulative findings demonstrated that <i>CCND1</i> polymorphism (rs9344) was not significantly associated with cancer risk in all the genetic models studied (dominant model: GG vs GA+AA: OR (95%CI) = 0.81 (0.60-1.09), <i>P</i>=0.17; recessive model: GG+GA vs AA: OR (95%CI) = 1.23 (0.96-1.59), <i>P</i>=0.11; co-dominant model: <b>GG vs AA: OR (95%CI) = 1.35 (0.93-1.97), <i>P</i>=0.12;</b> co-dominant model: <b>(GG vs GA: OR (95%CI) = 1.16 (0.85-1.59), <i>P</i>=0.34</b>; allelic model: A vs G: OR (95%CI) = 1.20 (1.14-2.85), <i>P</i>=0.23; allelic model: G vs A: OR (95%CI) = 0.83 (0.62-1.12), <i>P</i>=0.23). 30361291 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE <b>Results:</b> Overall, the cumulative findings demonstrated that <i>CCND1</i> polymorphism (rs9344) was not significantly associated with cancer risk in all the genetic models studied (dominant model: GG vs GA+AA: OR (95%CI) = 0.81 (0.60-1.09), <i>P</i>=0.17; recessive model: GG+GA vs AA: OR (95%CI) = 1.23 (0.96-1.59), <i>P</i>=0.11; co-dominant model: <b>GG vs AA: OR (95%CI) = 1.35 (0.93-1.97), <i>P</i>=0.12;</b> co-dominant model: <b>(GG vs GA: OR (95%CI) = 1.16 (0.85-1.59), <i>P</i>=0.34</b>; allelic model: A vs G: OR (95%CI) = 1.20 (1.14-2.85), <i>P</i>=0.23; allelic model: G vs A: OR (95%CI) = 0.83 (0.62-1.12), <i>P</i>=0.23). 30361291 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C4048328
Disease:
cervical cancer
0.040 GeneticVariation BEFREE A significant association of CxCa with various polymorphisms was observed: rs1800797 in the IL-6 gene (odds ratio [OR] = 0.88, 95% confidence intervals [CI]: 0.79-0.99); rs1041981 in the LTA gene (OR = 0.87, 95% CI: 0.78-0.98), and rs9344 in the CCND1 gene (OR = 1.14, 95% CI: 1.02-1.27), for those individuals carrying the rare allele. 19585495 2009
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.040 GeneticVariation BEFREE A significant association of CxCa with various polymorphisms was observed: rs1800797 in the IL-6 gene (odds ratio [OR] = 0.88, 95% confidence intervals [CI]: 0.79-0.99); rs1041981 in the LTA gene (OR = 0.87, 95% CI: 0.78-0.98), and rs9344 in the CCND1 gene (OR = 1.14, 95% CI: 1.02-1.27), for those individuals carrying the rare allele. 19585495 2009
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0302592
Disease:
Cervix carcinoma
0.040 GeneticVariation BEFREE A significant association of CxCa with various polymorphisms was observed: rs1800797 in the IL-6 gene (odds ratio [OR] = 0.88, 95% confidence intervals [CI]: 0.79-0.99); rs1041981 in the LTA gene (OR = 0.87, 95% CI: 0.78-0.98), and rs9344 in the CCND1 gene (OR = 1.14, 95% CI: 1.02-1.27), for those individuals carrying the rare allele. 19585495 2009
dbSNP: rs603965
rs603965
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Additionally, a significant association with tumor grade was also observed for the rs603965 polymorphism in G versus A (allele comparison, p = 0.02, OR = 0.74, 95% CI 0.59-0.95, I<sup>2</sup>  = 26%). 30972946 2019
dbSNP: rs34507830
rs34507830
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0678222
Disease:
Breast Carcinoma
T 0.700 GeneticVariation GWASCAT Association analysis identifies 65 new breast cancer risk loci. 29059683 2017
dbSNP: rs766170770
rs766170770
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C1167791
Disease:
Skin toxicity
0.010 GeneticVariation BEFREE Associations of epidermal growth factor (EGF) 61A>G, EGF receptor (EGFR) CA(14-22), cyclin D1 (CCND1) 932G>A, fragment-C gamma receptor (FCGR) 2A 535A>G and FCGR3A 818A>C polymorphisms with progression-free survival (PFS) and cetuximab-related skin toxicity were studied. 20418097 2010
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C1168401
Disease:
Squamous cell carcinoma of the head and neck
0.010 GeneticVariation BEFREE By grouping patients according to stage and radiation treatment, we compared SCCHN survival with regard to ERCC2 A35931C (Lys751Gln, rs13181) and CCND1 G870A (Pro241Pro, rs9344) genotypes. 21890746 2011
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0596263
Disease:
Carcinogenesis
0.010 GeneticVariation BEFREE Cell cycle regulation may play a role in oral carcinogenesis and CCND1 rs9344 polymorphism maybe a useful biomarker for oral oncology. 21273603 2011
dbSNP: rs603965
rs603965
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0699790
Disease:
Colon Carcinoma
0.010 GeneticVariation BEFREE For the rs603965 polymorphism of the CCND1 gene, we observed a protection effect for the colon cancer location under the dominant model (OR=0.49, P=0.0477). 27755946 2016
dbSNP: rs603965
rs603965
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0007102
Disease:
Malignant tumor of colon
0.010 GeneticVariation BEFREE For the rs603965 polymorphism of the CCND1 gene, we observed a protection effect for the colon cancer location under the dominant model (OR=0.49, P=0.0477). 27755946 2016
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0678222
Disease:
Breast Carcinoma
0.010 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) in three genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry [CCND1 Ex4-1G>A (rs9344), CDK7 Ex2-28C>T (rs2972388), ESR1 P325P Ex4-122G>C (rs1801132), and ESR1 T594T Ex8+229G>A (rs2228480)], and their associations with breast cancer risk were assessed. 19941161 2010
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE Four single nucleotide polymorphisms (SNPs) in three genes were genotyped by matrix-assisted laser desorption/ionization time-of-flight mass spectrometry [CCND1 Ex4-1G>A (rs9344), CDK7 Ex2-28C>T (rs2972388), ESR1 P325P Ex4-122G>C (rs1801132), and ESR1 T594T Ex8+229G>A (rs2228480)], and their associations with breast cancer risk were assessed. 19941161 2010
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0268381
Disease:
Primary amyloidosis
G 0.700 GeneticVariation GWASCAT Genome-wide association study of clinical parameters in immunoglobulin light chain amyloidosis in three patient cohorts. 28679651 2017
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0549473
Disease:
Thyroid carcinoma
0.010 GeneticVariation BEFREE Genotype AA of rs9344 was associated with high expression of <i>CCND1b</i> mRNA and was more frequently found in thyroid cancer than in benign tumors. 30428594 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0007115
Disease:
Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE Genotype AA of rs9344 was associated with high expression of <i>CCND1b</i> mRNA and was more frequently found in thyroid cancer than in benign tumors. 30428594 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0086692
Disease:
Benign Neoplasm
0.010 GeneticVariation BEFREE Genotype AA of rs9344 was associated with high expression of <i>CCND1b</i> mRNA and was more frequently found in thyroid cancer than in benign tumors. 30428594 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C4048328
Disease:
cervical cancer
0.040 GeneticVariation BEFREE However, in case of cervical cancer risk a non-significant association was reported under the recessive model (GG+GA vs AA: OR = 1.52, 95%CI = 0.60-3.90, <i>P</i>=0.38) with reference to <i>CCND1</i> polymorphism (rs9344). 30361291 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0302592
Disease:
Cervix carcinoma
0.040 GeneticVariation BEFREE However, in case of cervical cancer risk a non-significant association was reported under the recessive model (GG+GA vs AA: OR = 1.52, 95%CI = 0.60-3.90, <i>P</i>=0.38) with reference to <i>CCND1</i> polymorphism (rs9344). 30361291 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0007847
Disease:
Malignant tumor of cervix
0.040 GeneticVariation BEFREE However, in case of cervical cancer risk a non-significant association was reported under the recessive model (GG+GA vs AA: OR = 1.52, 95%CI = 0.60-3.90, <i>P</i>=0.38) with reference to <i>CCND1</i> polymorphism (rs9344). 30361291 2018
dbSNP: rs9344
rs9344
Entrez Id: 595
Gene Symbol: CCND1
CCND1
CUI: C0268381
Disease:
Primary amyloidosis
G 0.700 GeneticVariation GWASCAT In AL amyloidosis, rs9344 at the splice site of cyclin D1, promoting translocation (11;14), reached the highest significance, P=7.80 × 10<sup>-11</sup>; the SNP was only marginally significant in MM. 28025584 2017