Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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

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
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
Childhood Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028

2018

dbSNP: rs1444669684
rs1444669684
CUI: C0206656
Disease: Embryonal Rhabdomyosarcoma
Embryonal Rhabdomyosarcoma
0.010 GeneticVariation BEFREE Analysis of the relationship between the KRAS G12V oncogene and the Hippo effector YAP1 in embryonal rhabdomyosarcoma. 30353028

2018

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: 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 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: 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
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
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: 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: 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: 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: 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: 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 Foxm1 transcription factor is required for the initiation of lung tumorigenesis by oncogenic Kras(G12D.). 24213573

2014

dbSNP: rs1444669684
rs1444669684
CUI: C0017638
Disease: Glioma
Glioma
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017

dbSNP: rs1444669684
rs1444669684
CUI: C0280474
Disease: Childhood Glioblastoma
Childhood Glioblastoma
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017

dbSNP: rs1444669684
rs1444669684
CUI: C0278878
Disease: Adult Glioblastoma
Adult Glioblastoma
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017

dbSNP: rs1444669684
rs1444669684
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017

dbSNP: rs1444669684
rs1444669684
CUI: C0017636
Disease: Glioblastoma
Glioblastoma
0.010 GeneticVariation BEFREE Gene expression profiles of three glioma stem cell line samples, three normal astrocyte samples, three astrocyte overexpressing 4 iPSC-inducing and oncogenic factors (myc(T58A), OCT-4, p53DD, and H-Ras(G12V)) samples, three astrocyte overexpressing 7 iPSC-inducing and oncogenic factors (OCT4, H-Ras(G12V), myc(T58A), p53DD, cyclin D1, CDK4(RC24) and hTERT) samples and three glioblastoma cell line samples were downloaded from the ArrayExpress database (accession: E-MTAB-4771). 28952134

2017