CDKN2B, cyclin dependent kinase inhibitor 2B, 1030

N. diseases: 440; N. variants: 13
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE We sought to determine whether p15 is a useful immunohistochemical marker to distinguish Spitz nevi from spitzoid melanomas and to compare p15 and p16 staining in this population. 30666677 2019
CUI: C0025202
Disease: melanoma
melanoma
0.200 AlteredExpression disease BEFREE A two-sided t-test was used to evaluate between-group differences in mean H scores and qΔCt values. p15 Expression was significantly increased in melanocytic nevi compared with melanomas (mean H scores, 254.8 versus 132.3; P < 0.001). 27855847 2016
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE Using melanocytes from human moles, we show that BRAF activation leads to a CDKN2B induction that is critical for restraining BRAF oncogenic effects, and when lost, contributes to melanoma. 26183406 2015
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE By comparison with the other germ line deletions at the CDKN2A, CDKN2B and CDKN2BAS gene cluster reported in melanoma susceptible families, the deletion detected in the two sisters is peculiar for its de novo origin and for its extension, as it represents the largest constitutive deletion at 9p21.3 region identified so far.In addition, the two studied cases add to other evidence indicating association of melanoma with exposure to ionizing radiation and with second neoplasm after childhood cancer. 24884915 2014
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE A number of genes previously recognized to have an important role in the development and progression of melanoma were identified including homozygous deletions of CDKN2A (13 of 39 samples), CDKN2B (10 of 39), PTEN (3 of 39), PTPRD (3 of 39), TP53 (1 of 39), and amplifications of CCND1 (2 of 39), MITF (2 of 39), MDM2 (1 of 39), and NRAS (1 of 39). 22250051 2012
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE Pharmacologic PI3K inhibition in melanoma cells suppressed proliferation and induced the senescence-associated tumor suppressor p15(INK4B). 22549727 2012
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE This study points to the existence of a new gene within the p15/CDKN2B-p16/CDKN2A-p14/ARF locus putatively involved in melanoma-NST syndrome families and in melanoma-prone families with no identified p16/CDKN2A mutations as well as in somatic tumors. 17440112 2007
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease LHGDN Here we provide evidence that p15(INK4b), rather than p27(KIP1), is the cyclin-dependent kinase inhibitor responsible for G0/G1 arrest of human melanoma cells grown on fibrillar collagen. 17553787 2007
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease LHGDN Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 15937071 2006
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE Comprehensive analysis of CDKN2A (p16INK4A/p14ARF) and CDKN2B genes in 53 melanoma index cases considered to be at heightened risk of melanoma. 15937071 2006
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE The aims of our study were to analyse alterations in p53, p21, p16 and p15 genes in melanoma tumors and melanoma cell lines by single strand conformational polymorphism (SSCP), and to detect homozygous deletions. 15960923 2005
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE The aim of our study was to analyse mutations in TP53, CDKN1A, CDKN2A, and CDKN2B genes in melanoma tumors and melanoma cell lines 15819981 2005
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE Similarly, the association between cutaneous and uveal melanomas in some families, coupled with the high frequency of somatic deletions of the INK4A-ARF locus in uveal melanomas, strongly suggests that mutations in P16(INK4A) and P15 account for a proportion of uveal melanomas. 12556369 2003
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE Homozygous deletions of human chromosomal region 9p21 occur frequently in malignant melanoma and are associated with the loss of the tumor suppressor genes p16(INK4a) and p15(INK4b). 12875987 2003
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE Putative tumour suppressor genes CDKN2A and CDKN2B (on chromosome 9p21) and CDKN2A-interacting cell growth regulatory genes CDK4 and Id-1 have been demonstrated to be involved in the pathogenesis of malignant melanoma (MM). 14646620 2003
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE It is known that the pRb pathway cell-cycle inhibitor p16(INK4A) plays a significant role in cutaneous melanoma and that alteration of p16(INK4A), which resides within the 9p21-22 locus that also contains p15(INK4B) and p14(ARF), may occur in up to one third of uveal melanomas. 12202501 2002
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE The P15 and P16 genes are intricately linked on 9p21 and can be inactivated in melanoma and non-Hodgkin's lymphoma. 11874489 2002
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE The 500 C>G polymorphism, however, was in linkage disequilibrium with approximately 50 kb apart the C>A intronic polymorphism in the CDKN2B gene (determined in 44 melanomas and 90 controls; Fisher exact test, p<0.0001). 11668523 2001
CUI: C0025202
Disease: melanoma
melanoma
0.200 Biomarker disease BEFREE In addition to the CDKN genes (p16/CDKN2A, p15/CDKN2B and p19(ARF), frequently inactivated in familial MM), widely reported data suggested the presence within this region of other melanoma susceptibility gene(s). 11104570 2000
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE In addition, two chromosome 9 derivatives that were microdeleted in the region of the p16INK4A/p15INK4B locus were transferred to determine whether an additional melanoma TSG or TSGs reside on chromosome 9p, as indicated by previous melanoma allele loss studies. 9973191 1999
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE Surprisingly, at the DNA level alone, 96% (43/45) of melanoma cell lines examined were found to be deleted/mutated/methylated for CDKN2A (34/45), homozygously deleted for CDKN2A's neighbor and homolog CDKN2B (6/45), and/or mutated/amplified for CDK4 (5/45). 9598804 1998
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE These results indicate homozygous p16INK4a and p15INK4b loss to occur in a subset of cutaneous melanomas and suggest, in view of the frequent loss of heterozygosity on chromosome 9p21, the presence of another tumour suppressor gene within this chromosomal region. 9536218 1998
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE Mutations of p16 and p15 suppressor oncogenes and the replication errors in six microsatellite loci in sporadic malignant melanomas were analyzed. 9617435 1998
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE In the family segregating the melanoma/NST syndrome, a large germ-line deletion ablated the whole p16, p19, and p15 gene cluster (or INK4 locus), whereas a more circumscribed molecular lesion disrupting p16 and p19 but leaving p15 unaltered segregated with the melanoma-astrocytoma syndrome (MIM 155755). 9622062 1998
CUI: C0025202
Disease: melanoma
melanoma
0.200 GeneticVariation disease BEFREE The tumor suppressor genes CDKN2A and CDKN2B have been mapped to the 9p21 region, and genetic analyses have revealed the presence of germline CDKN2A alterations in melanoma families. 9168184 1997