Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours. 30353028

2018

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE Disruption of Acvr1b in LSL-KRAS(G12D);Pdx1-Cre mice accelerated the growth of pancreatic IPMNs compared with LSL-KRAS(G12D);Pdx1-Cre mice, but did not alter growth of pancreatic intraepithelial neoplasias. 26408346

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE The K-Ras(V14I) mutation is a mild activating K-Ras protein; thus, we have used this model to study tumour susceptibility in comparison with mice expressing the classical K-Ras(G12V) oncogene. 27174785

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE Coactivation of BRAF(V600E) and KRAS(G12D) markedly reduced lung tumor numbers and overall tumo</span>r burden compared with activation of BRAF(V600E) alone. 26028035

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.090 GeneticVariation BEFREE Orthotopic implantation of PDCs carrying the activated Kras(G12D</span>)-allele and shRNA against p16(Ink4a) or Trp53 resulted in tumor growth, metastasis, and reduced survival of NSG mice. 25724428

2015

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
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
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: 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
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.050 GeneticVariation BEFREE A clinically translatable αvβ6-targeting NIRF agent was developed, based on a previously developed cysteine knottin peptide for PET imaging, R01-MG, and validated in preclinical mouse models.<b>Experimental Design:</b> The applicability of the agent was tested for cell and tissue binding characteristics using cell-based plate assays, subcutaneous, and orthotopic pancreatic models, and a transgenic mouse model of PDAC development (Pdx1-Cre<sup>tg/+</sup>;KRas<sup>LSL G12D/+</sup>;Ink4a/Arf<sup>-/-</sup>). 29298796

2018

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
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: C0030297
Disease: Pancreatic Neoplasm
Pancreatic Neoplasm
0.030 GeneticVariation BEFREE We disrupted Acvr1b specifically in pancreata of mice (Acvr1b(flox/flox);Pdx1-Cre mice) and crossed them with LSL-KRAS(G12D) mice, which express an activated form of KRAS and develop spontaneous pancreatic tumors. 26408346

2016

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: 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: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma
0.020 GeneticVariation BEFREE First, to compare YAP1 S127A and KRAS G12V-driven rhabdomyosarcomas, we re-analysed gene expression microarray datasets from mouse rhabdomyosarcomas caused by these genes. 30353028

2018

dbSNP: rs1444669684
rs1444669684
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation BEFREE The data suggest that coexpression of BRAF(V600E) and KRAS(G12D) in early tumorigenesis leads to negative selection due to oncogene-induced senescence. 26028035

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.020 GeneticVariation BEFREE Loss of the gene that encodes p16 (Cdkn2a) was required for progression of IPMNs to pancreatic ductal adenocarcinomas in Acvr1b(flox/flox);LSL-Kras(G12D);Pdx1-Cre mice. 26408346

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.020 GeneticVariation BEFREE Coactivation of BRAF(V600E) and KRAS(G12D) markedly reduced lung tumor numbers and overall tumor burden compared with activation of BRAF(V600E) alone. 26028035

2016

dbSNP: rs1444669684
rs1444669684
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.020 GeneticVariation BEFREE Foxm1 transcription factor is required for the initiation of lung tumorigenesis by oncogenic Kras(G12D.). 24213573

2014

dbSNP: rs1444669684
rs1444669684
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.020 GeneticVariation BEFREE Conditional deletion of Foxm1 from Kras(G12D)-expressing respiratory epithelium prevented the initiation of lung tumors in vivo. 24213573

2014

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