Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Assessing a single SNP located at TERT/CLPTM1L multi-cancer risk region as a genetic modifier for risk of pancreatic cancer and melanoma in Dutch CDKN2A mutation carriers. 31203567 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Pancreatic cancer and melanoma related perceptions and behaviors following disclosure of CDKN2A variant status as a research result. 30992552 2019
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE In this study, we show that in an area with low melanoma incidence, CDKN2A germline mutations in patients with melanoma and personal or family history of pancreatic cancer are mainly present in the setting of familial or multiple melanoma cases. 29543703 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE Our results indicated that p16 can be used as a cue signal for diagnosing advanced pancreatic cancer. 29254312 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE We examined the immediate and delayed psychological impact of returning a CDKN2A variant result that is associated with increased risk of pancreatic cancer and melanoma. 30999302 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Comparing 3030 case patients with pancreatic cancer (43.2% female; 95.6% non-Hispanic white; mean age at diagnosis, 65.3 [SD, 10.7] years) with reference controls, significant associations were observed between pancreatic cancer and mutations in CDKN2A (0.3% of cases and 0.02% of controls; odds ratio [OR], 12.33; 95% CI, 5.43-25.61); TP53 (0.2% of cases and 0.02% of controls; OR, 6.70; 95% CI, 2.52-14.95); MLH1 (0.13% of cases and 0.02% of controls; OR, 6.66; 95% CI, 1.94-17.53); BRCA2 (1.9% of cases and 0.3% of controls; OR, 6.20; 95% CI, 4.62-8.17); ATM (2.3% of cases and 0.37% of controls; OR, 5.71; 95% CI, 4.38-7.33); and BRCA1 (0.6% of cases and 0.2% of controls; OR, 2.58; 95% CI, 1.54-4.05). 29922827 2018
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE The most consistently mutated genes are <i>KRAS, CDKN2A, TP53</i>, and <i>SMAD4/DPC4</i> Study of familial PDAC has led to the recognition that a variety of defects in DNA repair genes can be associated with the emergence of pancreatic cancer. 28373361 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 AlteredExpression disease BEFREE This study reports on the conjugation of cytotoxic drugs to an aptamer previously described by our group, the pancreatic cancer RNA aptamer P19. 28325302 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Germline mutations in the CDKN2A gene are associated with an increased risk of malignant melanoma and pancreatic cancer. 27804060 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE The combination of mutant KRAS with a single inactivating TP53, SMAD4 or CDKN2A mutation in genetically engineered mouse models (GEMMs) showed that these mutations exert different synergistic effects in PC. 28475592 2017
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Although it is well known that CDKN2A mutations confer an increased risk for melanoma and pancreatic carcinoma, the association with an increased risk for nerve sheath tumours and other tumour types is under-recognized. 26876133 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE In conclusion, we observed a novel association in a pleiotropic region that has been found to be of key relevance in the susceptibility to various types of cancer and diabetes suggesting that the CDKN2A/B locus could represent a genetic link between diabetes and pancreatic cancer risk. 27486979 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE We have tested nanopore sequencing to detect a series of well-characterized SVs, including large deletions, inversions, and translocations that inactivate the CDKN2A/p16 and SMAD4/DPC4 tumor suppressor genes in pancreatic cancer. 26787508 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE The most extensively documented association is between CDKN2A germ line mutations and pancreatic cancer, and a cancer syndrome including cutaneous melanoma, uveal melanoma and mesothelioma has been proposed for BAP1 germ line mutations. 26337759 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Also, ATM variants (n = 5) were only observed in CDKN2A- PC patients with a family history that included digestive system tumors. 27449771 2016
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE The p16-Leiden germline variant in the CDKN2A gene is associated with a high risk of melanoma and pancreatic cancer. 25227142 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE The results strongly suggest that CDKN2A methylation is correlated with an increased risk of pancreatic cancer. 26338139 2015
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE No standard medical management guidelines exist for families with CDKN2A mutations; however, family history of melanoma and pancreatic cancer may warrant further discussion. 24652319 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE Studies of the molecular pathology of pancreatic cancer have revealed that activation of KRAS, overexpression of cyclooxygenase-2, inactivation of p16(INK4A) and loss of p53 activities occurred in pancreatic cancer. 25152585 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE Our results show that the clinical candidate AKT inhibitor MK-2206 promotes ARF nucleolar localization, reduced p53(mut) stability and increased sensitivity to ionizing radiation in a xenograft model of pancreatic cancer. 25071014 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE This review presents current evidence regarding both senescence induction and escape with respect to pancreatic cancer, highlighting the key roles of p19ARF, p53, Rb and P16INK4a. 25461770 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE Increasing knowledge about the molecular pathogenesis of the disease has shown that genetic alterations, such as mutations of K-ras, and especially epigenetic dysregulation of tumor-associated genes, such as silencing of the tumor suppressor p16(ink4a), are hallmarks of pancreatic cancer. 24976721 2014
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 Biomarker disease BEFREE Activated K-Ras and INK4a/Arf deficiency promote aggressiveness of pancreatic cancer by induction of EMT consistent with cancer stem cell phenotype. 22806240 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE However, a subset of pancreatic cancer is attributable to known inherited cancer predisposition syndromes, including several hereditary breast cancer genes (BRCA1, BRCA2, and PALB2), CDKN2A, hereditary pancreatitis, hereditary nonpolyposis colorectal cancer, and Peutz-Jeghers syndrome. 22846737 2013
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma
0.600 GeneticVariation disease BEFREE Thus, dietary energy balance modulation impacts spontaneous pancreatic tumorigenesis induced by mutant Kras and Ink4a deficiency, the most common genetic alterations in human pancreatic cancer. 23980075 2013