CCND1, cyclin D1, 595

N. diseases: 859; N. variants: 12
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 GeneticVariation disease BEFREE Patients with TP53 mutation (-) PIK3CA mutation (-) ERBB2 amplification (+) CCND1 amplification (-), TP53 mutation (+) PIK3CA mutation (-) ERBB2 amplification (+) CCND1 amplification (-) or TP53 mutation (+) PIK3CA mutation (+) ERBB2 amplification (+) CCND1 amplification (-)had significantly higher pCR rates (P < 0.05 for ypT0/isypN0 and ypT0/is) than wild type genotype tumors. 30776175 2019
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 Biomarker disease BEFREE Gene copy number alterations were identified in 75.8% of cases, including SOX2 amplification (31.2%), CDKN2A deletion (21.7%), PTEN deletion (16.6%), FGFR1 amplification (15.9%), EGFR amplification (14.0%), CCND1 amplification (14.0%), HER2 amplification (9.6%) and PDGFRA amplification (7.6%). 27145277 2016
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 AlteredExpression disease BEFREE GDC-0941 downregulated the key components of the cell cycle machinery, such as cyclin D1, upregulated the apoptotic markers and inhibited cell motility on three cell lines with PIK3CA Mutation or HER2 amplification. 24601221 2014
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 AlteredExpression disease BEFREE Neither CCND1 amplification nor cyclinD1 expression was associated with tumor size, pathological node status or HER2 amplification, but high CCND1 amplification (Copy Number Gain (CNG) > or = 8) was associated with high tumor grade (p = 0.005; chi square 7.915, 2 df) and worse prognosis by Nottingham Prognostic Index (p = 0.001; 2 sample t-test). 19904758 2010
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 AlteredExpression disease BEFREE A minor subset of these tumors shows beta-catenin nuclear accumulation in association with increased expression of MMP-7, but not of cyclin D1, independent of EGFR and HER-2 gene amplification or expression. 16158183 2005
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 GeneticVariation disease BEFREE None of the tumours of BRCA1 mutation carriers showed CCND1 amplification and only one tumour showed HER2 amplification. 11477142 2001
CUI: C1512127
Disease: HER2 gene amplification
HER2 gene amplification
0.070 Biomarker disease BEFREE HER2/neu amplification was negatively correlated with oestrogen receptor (ER) and progesterone receptor (PR) status (P less than 0.0001; for both), c-myc amplification was more prevalent in the PR-negative subpopulation (P less than 0.05) and int-2/bcl-1 amplification was positively correlated with ER status (P less than 0.001). 1350457 1992