CDKN2A, cyclin dependent kinase inhibitor 2A, 1029

N. diseases: 1314; N. variants: 146
Disease: Pancreatic Neoplasm ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease BEFREE This can have implications for screening and for the diagnosis of pancreatic neoplasms in carriers of germline CDKN2A mutations. 31261289 2019
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease CTD_human Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. 26098869 2015
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease BEFREE In this study, three patients who developed both melanoma and intraepithelial neoplasia of the pancreas were tested for CDKN2A mutations and deletions, and investigated for rare germline copy number variations (CNVs). 24984283 2014
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease BEFREE In LSL-Kras(G12D)/Pdx-1-Cre/Ink4a/Arf(lox/+) mice, calorie restriction versus overweight- or obesity-inducing diet regimens decreased serum IGF-I, tumoral Akt/mTOR signaling, pancreatic desmoplasia, and progression to pancreatic ductal adenocarcinoma (PDAC), and increased pancreatic tumor-free survival. 23980075 2013
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease BEFREE The INK4a-ARF locus plays a central role in the development of pancreatic tumors as evidenced by the fact that up to 98% of pancreatic tumor specimens harbored genetic alterations at the INK4a-ARF locus. 23727582 2013
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease LHGDN Low prevalence of CDKN2A/ARF mutations among early-onset cancers of breast, pancreas and malignant melanoma in Poland. 18714178 2008
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease LHGDN Genetic testing in familial melanoma: uptake and implications. 18613292 2008
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease LHGDN Detecting low-abundance p16 and p53 mutations in pancreatic juice using a novel assay: heteroduplex analysis of limiting dilution PCRs. 17106238 2006
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease LHGDN Alterations of tumor suppressor gene p16INK4a in pancreatic ductal carcinoma. 15985168 2005
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 AlteredExpression disease LHGDN Restoration of protein synthesis in pancreatic cancer cells by trans-splicing ribozymes. 15336553 2004
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 AlteredExpression disease BEFREE The fate of pancreatic tumor cell lines following p16 overexpression depends on the modulation of CDK2 activity. 15309028 2004
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease LHGDN INK4/ARF germline alterations in pancreatic cancer patients. 14679123 2004
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease LHGDN Familial melanoma, pancreatic cancer and germline CDKN2A mutations. 15146471 2004
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease BEFREE Delivery of ALSV-A-based RCAS vectors encoding either mouse polyoma virus middle T antigen (PyMT) or c-Myc to elastase-tv-a transgenic, Ink4a/Arf null mice induced the formation of pancreatic tumors. 14681205 2003
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease BEFREE The p16INK4a-/retinoblastoma tumour-suppressive pathway has been shown to be involved in the development of near to all pancreatic neoplasms. p14ARF is another tumour suppressor located in the immediate neighbourhood of p16INK4a. 12610506 2003
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease LHGDN High prevalence of the G101W germline mutation in the CDKN2A (P16(ink4a)) gene in 62 Italian malignant melanoma families. 11807902 2002
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease BEFREE Experiments on subcutaneous pancreatic xenografts demonstrated the effectiveness of p16 in the inhibition of pancreatic tumor growth in vivo. 11687897 2001
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease CTD_human Novel germline p16(INK4) allele (Asp145Cys) in a family with multiple pancreatic carcinomas. Mutations in brief no. 148. Online. 10627132 1998
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 AlteredExpression disease BEFREE To directly investigate genetic alterations and expression of p16/MTS1 and p15/MTS2, this study surveyed pancreatic tumors. 8613012 1996
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GeneticVariation disease UNIPROT
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 Biomarker disease HPO
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 GenomicAlterations disease CGI
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm 		0.800 CausalMutation disease CGI