CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Coexisting intraepithelial carcinoma was detected in seven NECs and only one lesion showed the combination of diffuse RB loss and p16 overexpression. 30952735 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE The tumor suppressor genes RB1 (retinoblastoma) and CDKN2a (cyclin-dependent kinase inhibitor 2a) are critical cell-cycle regulators, but their roles in human cardiomyogenesis remains unclear. 30744497 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Head and neck HPV-NEC is a rare, aggressive entity that can show mixed small and large cell features and p16 upregulation; p53 and Rb are variable with limited diagnostic utility. 30475447 2019
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE KRAS<sup>G12D</sup> overexpression in these cells activated transforming growth factor-β signaling and expression of CDKN2B, which, along with CDKN2A, led to cellular senescence and protected cells from KRAS-mediated transformation via inhibition of retinoblastoma phosphorylation. 28892048 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE There were no CDKN2A alterations found and no correlation of Rb pathway alterations with clinical outcome. 30293995 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In Astrocytoma, IDH-mutant, PIK3R1 mutations (P = 0.0014) and altered retinoblastoma pathway genes (RB1, CDKN2A, and CDK4) (P = 0.013) were independent predictors of poor survival. 29016839 2018
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In this phase I study, the maximum tolerated dose (MTD) and recommended phase II dose (RP2D), safety, pharmacokinetics (PK), and preliminary activity of single-agent ribociclib were investigated in pediatric patients with neuroblastoma, MRT, or other cyclin D-CDK4/6-INK4-retinoblastoma pathway-altered tumors.<b>Experimental Design:</b> Patients (aged 1-21 years) received escalating once-daily oral doses of ribociclib (3-weeks-on/1-week-off). 28432176 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE In Rb<sup>-/-</sup> p107<sup>-/-</sup> retinoblastomas, somatic copy number alterations (SCNAs) like Mdm2 amplification or Cdkn2a deletion targeting the p53-pathway occur, which is uncommon for human retinoblastoma. 27750399 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The results showed a decline in the expression of SOX2, P16 and P27 after miR-340 over-expression, whereas we observed an increase in the expression of cyclin A2, CDK2, SOX17, P18, SMAD 4 and RB. 27229858 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The latter inactivates the tumor suppressor protein retinoblastoma (Rb), which leads to the overexpression of p16(INK4) protein, providing unique Ags for therapeutic HPV-specific cancer vaccination. 26851223 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 GeneticVariation disease BEFREE In addition, we report for the first time that resistance of KRAS-mutant NSCLCs to MEK inhibitor is, at least partly, due to p16 mutation status, and we described a drug combination that efficiently reactivates the RB tumor suppressor pathway to trigger radiosensitizing effects, apoptosis, and cell-cycle arrest. 26728409 2016
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Univariate survival analysis revealed that the gene amplification of c-Myc (p = 0.008), Mdm2 (p = 0.020) and the gene deletion of p21 (p = 0.004), p16 (p = 0.015), and Rb1 (p = 0.028) were the independent predictive factor of 5-year OS for patients with TNBC. 24096545 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The therapeutic targeting of overexpressed p16(ink4a) in the p16(ink4a)-cyclin-Rb pathway may be a useful strategy in the treatment of cervical cancer. 24714974 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE The aim was to explore putative differences in p16(INK) (4a) -retinoblastoma (Rb) pathway and INK4a/ARF methylation between gastric cardia and distal adenocarcinomas. 25123601 2014
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE We further provide evidence for an interaction of SATB1 with the retinoblastoma (RB)/E2F pathway downstream of p16. 23686316 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE On the other hand, knockdown of p16(ink4a) sensitizes cancer cells to TSC2 knockdown induced cell death in a manner that is likely dependant on serum induction of Cyclin D1 to inactivate the Rb function. 23022476 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE Genes most commonly associated with the process of oncogenesis include: p53 inactivating mutation; hDM2 overexpression; p16 reduced expression; K-/H-RAS activating mutation; PTEN inactivating mutation/deletion; EGFR activating mutation and overexpression; retinoblastoma inactivating mutation and deletion; Cyclin proteins overexpression; CD95 reduced expression; protective BCL-2 proteins overexpression; to name but just a few of such molecules. 23974512 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE This oncogenic p16(INK4A) activity depends on inhibition of CDK4/CDK6, suggesting that in cervical cancer cells where retinoblastoma tumor suppressor is inactivated, CDK4/CDK6 activity needs to be inhibited in order for cells to survive. 24046371 2013
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE DNA microarray and immunohistochemical analyses have shown that most TNBCs fall within the basal-like histological subset of breast cancers, which frequently exhibit inactivation of the retinoblastoma tumor suppressor (Rb) and upregulation of the cyclin-dependent kinase inhibitor p16(INK4a) (p16). 21717460 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE DNA damage induces cell-intrinsic checkpoints, including p53 and retinoblastoma (RB), as well as upstream regulators (exonuclease 1 (EXO1), ataxia telangiectasia mutated (ATM), ATR, p16(INK4a) and p19(ARF)) and downstream targets (p21, PUMA (p53 upregulated modulator of apoptosis) and sestrins). 22914294 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE To investigate the discrepancy between p14ARF mRNA and protein in retinoblastoma, we examined p14ARF biogenesis. 22336108 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE In an independent cohort, immunohistochemical analyses of RB and p16ink4a revealed an association of RB loss (P = 0.0018) or elevated p16ink4a (P = 0.0253) with pathologic complete response. 22811582 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Array-based comparative genomic hybridization studies revealed deletions in the CDKN2A locus that include ARF and P16INK4A, both of which encode tumor suppressor proteins, in both human and mouse retinoblastoma. 22484813 2012
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 Biomarker disease BEFREE Several molecules such as retinoblastoma and p16 were raised as key factors in tumorigenesis and invasiveness. 21565925 2011
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma
0.100 AlteredExpression disease BEFREE The protein and mRNA expressions of cyclin D1, proliferating cell nuclear antigen (PCNA), retinoblastoma (Rb), and p16 were observed with immunofluorescence and RT-PCR, respectively. 22139542 2011