Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1444669684
rs1444669684
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation BEFREE We also know from mouse models that Ras/mitogen-activated protein kinase pathway activation is very important in melanoma development, either through direct activation of Ras (e.g., Hras G12V), or via activation of Ras-effector pathways by other oncogenes (e.g., Ret, Hgf/Sf). 12406321

2002

dbSNP: rs1444669684
rs1444669684
CUI: C0021051
Disease: Immunologic Deficiency Syndromes
Immunologic Deficiency Syndromes
0.010 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases. 15937071

2006

dbSNP: rs1444669684
rs1444669684
CUI: C0025202
Disease: melanoma
melanoma
0.020 GeneticVariation BEFREE However, we identified a p14ARF exon 1beta missense germline mutation (G16D) in a melanoma-neural system tumour syndrome (CMM+NST) family and a 8474 bp germline deletion from 196 bp upstream of p14ARF exon 1beta initiation codon to 11233 bp upstream of exon 1alpha of p16(INK4A) in a family with five melanoma cases. 15937071

2006

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreas. 17349581

2007

dbSNP: rs1444669684
rs1444669684
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.030 GeneticVariation BEFREE We show here that concomitant expression of Kras(G12D) and haploinsufficiency of the Smad4/Dpc4 tumor suppressor gene engenders a distinct class of pancreatic tumors, mucinous cystic neoplasms (MCNs), which culminate in invasive ductal adenocarcinomas. 17349581

2007

dbSNP: rs1444669684
rs1444669684
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.020 GeneticVariation BEFREE We show here that concomitant expression of Kras(G12D) and haploinsufficiency of the Smad4/Dpc4 tumor suppressor gene engenders a distinct class of pancreatic tumors, mucinous cystic neoplasms (MCNs), which culminate in invasive ductal adenocarcinomas. 17349581

2007

dbSNP: rs1444669684
rs1444669684
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas
0.010 GeneticVariation BEFREE Kras(G12D) and Smad4/Dpc4 haploinsufficiency cooperate to induce mucinous cystic neoplasms and invasive adenocarcinoma of the pancreas. 17349581

2007

dbSNP: rs1444669684
rs1444669684
CUI: C0007097
Disease: Carcinoma
Carcinoma
0.010 GeneticVariation BEFREE Deletion of Ink4a/Arf in K-ras(G12D) expressing mice prevents senescence and leads to invasive, metastasizing carcinomas with morphological and molecular alterations comparable to human KRAS mutated serrated tumors. 20708155

2010

dbSNP: rs1444669684
rs1444669684
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma
0.010 GeneticVariation BEFREE A total of 3 different somatic mutations were identified: one KRAS (codon G12D) in a carcinosarcoma and two exon 20 PI3KCA mutations (H1047R and H1047Y) both in carcinosarcomas. 20122944

2010

dbSNP: rs1444669684
rs1444669684
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.020 GeneticVariation BEFREE Expression of Kirsten rat sarcoma viral oncogene [Kras(G12V)] and disruption of cyclin-dependent kinase inhibitor 2A (CDKN2A; p16p19) in prospectively isolated satellite cells gave rise to pleomorphic rhabdomyosarcomas (MyoD-, Myogenin- and Desmin-positive), whereas introduction of the same oncogenetic hits in nonmyogenic progenitors induced pleomorphic sarcomas lacking myogenic features. 22135462

2011

dbSNP: rs1444669684
rs1444669684
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue
0.010 GeneticVariation BEFREE Expression of Kirsten rat sarcoma viral oncogene [Kras(G12V)] and disruption of cyclin-dependent kinase inhibitor 2A (CDKN2A; p16p19) in prospectively isolated satellite cells gave rise to pleomorphic rhabdomyosarcomas (MyoD-, Myogenin- and Desmin-positive), whereas introduction of the same oncogenetic hits in nonmyogenic progenitors induced pleomorphic sarcomas lacking myogenic features. 22135462

2011

dbSNP: rs1444669684
rs1444669684
CUI: C1261473
Disease: Sarcoma
Sarcoma
0.010 GeneticVariation BEFREE Expression of Kirsten rat sarcoma viral oncogene [Kras(G12V)] and disruption of cyclin-dependent kinase inhibitor 2A (CDKN2A; p16p19) in prospectively isolated satellite cells gave rise to pleomorphic rhabdomyosarcomas (MyoD-, Myogenin- and Desmin-positive), whereas introduction of the same oncogenetic hits in nonmyogenic progenitors induced pleomorphic sarcomas lacking myogenic features. 22135462

2011

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen. 23173060

2012

dbSNP: rs1444669684
rs1444669684
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.050 GeneticVariation BEFREE Here, we report that pancreas-targeted IKK2/β inactivation inhibited NF-κB activation and PDAC development in Kras(G12D) and Kras(G12D);Ink4a/Arf(F/F) mice, demonstrating a mechanistic link between IKK2/β and Kras(G12D) in PDAC inception. 22264792

2012

dbSNP: rs1444669684
rs1444669684
CUI: C0022660
Disease: Kidney Failure, Acute
Kidney Failure, Acute
0.010 GeneticVariation BEFREE Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen. 23173060

2012

dbSNP: rs1444669684
rs1444669684
CUI: C0264490
Disease: Acute respiratory failure
Acute respiratory failure
0.010 GeneticVariation BEFREE Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen. 23173060

2012

dbSNP: rs1444669684
rs1444669684
CUI: C0035436
Disease: Rheumatic Fever
Rheumatic Fever
0.010 GeneticVariation BEFREE Both tumors develop in mice upon conditional deletion in melanocytes of Ink4a/Arf tumor suppressor genes with concomitant expression of oncogene H-Ras(G12V) and a known tumor antigen. 23173060

2012

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE We found that the deletion of Ink4a/Arf in K-Ras(G12D) expressing mice led to high expression of PDGF-D signaling pathway in the tumor and tumor-derived cell line (RInk-1 cells). 22806240

2013

dbSNP: rs1444669684
rs1444669684
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.050 GeneticVariation 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

dbSNP: rs1444669684
rs1444669684
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.050 GeneticVariation BEFREE Compared with control, DNA synthesis and total cell proliferation was significantly increased in human PDCs harboring the PDAC common p53, Rb/p16(INK4a), and K-Ras (G12D) mutations. 23555182

2013

dbSNP: rs1444669684
rs1444669684
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.050 GeneticVariation BEFREE Our previous study has shown that activation of Notch and NF-κB play a critical role in the development of PDAC in the compound K-Ras(G12D) and Ink4a/Arf deficient transgenic mice. 22806240

2013

dbSNP: rs1444669684
rs1444669684
CUI: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.030 GeneticVariation 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

dbSNP: rs1444669684
rs1444669684
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.020 GeneticVariation 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

dbSNP: rs1444669684
rs1444669684
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma
0.020 GeneticVariation BEFREE Pancreatic ductal adenocarcinoma (PDAC) commonly contains a mutation in K-Ras(G12D) and is characterized by a desmoplastic reaction composed of deregulated, proliferating cells embedded in an abnormal extracellular matrix (ECM). 23555182

2013