Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE 44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C. 27591291

2016

dbSNP: rs121913529
rs121913529
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.790 GeneticVariation BEFREE NSCLC cell lines with mutant KRas-Gly12Asp had activated phosphatidylinositol 3-kinase (PI-3-K) and mitogen-activated protein/extracellular signal-regulated kinase kinase (MEK) signaling, whereas those with mutant KRas-Gly12Cys or mutant KRas-Gly12Val had activated Ral signaling and decreased growth factor-dependent Akt activation. 22247021

2012

dbSNP: rs121913529
rs121913529
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: rs121913529
rs121913529
CUI: C0024121
Disease: Lung Neoplasms
Lung Neoplasms
0.080 GeneticVariation BEFREE Lung tumors were induced by doxycycline, and the therapeutic effects of Kras DNA vaccine were evaluated with delivery of Kras(G12D) plasmids. 25077772

2014

dbSNP: rs121913529
rs121913529
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Tumorigenesis was measured in the Kras(G12D/+);Ptf1a(Cre/+) mouse model of PDA; these mice were crossed with mice with pancreas-specific disruption of genes encoding PI3K p110α (Pik3ca), p110β (Pik3cb), or RAC1 (Rac1). 25311989

2014

dbSNP: rs121913529
rs121913529
CUI: C0018923
Disease: Hemangiosarcoma
Hemangiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804

2016

dbSNP: rs121913529
rs121913529
CUI: C0278592
Disease: Adult Angiosarcoma
Adult Angiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804

2016

dbSNP: rs121913529
rs121913529
CUI: C0279988
Disease: Childhood Angiosarcoma
Childhood Angiosarcoma
0.010 GeneticVariation BEFREE Angiosarcoma showed a KRAS G12D point mutation, which is considered to be characteristic of vinyl chloride-induced angiosarcoma. 27544804

2016

dbSNP: rs121913529
rs121913529
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.100 GeneticVariation BEFREE G12D K-Ras increased cleavage of p35 to p25, a stable and greater activator of CDK5, thus implicating a role for CDK5 in early progression of PDAC. 21825040

2011

dbSNP: rs121913529
rs121913529
Secondary malignant neoplasm of colon and/or rectum
0.030 GeneticVariation BEFREE G12V and G12A KRAS mutations are associated with poor outcome in patients with metastatic colorectal cancer treated with bevacizumab. 26662311

2016

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE G12V and G12C mutations in the gene KRAS are associated with a poorer prognosis in primary colorectal cancer. 31309326

2019

dbSNP: rs121913529
rs121913529
Malignant neoplasm of colon and/or rectum
0.060 GeneticVariation BEFREE G12V and G12C mutations in the gene KRAS are associated with a poorer prognosis in primary colorectal cancer. 31309326

2019

dbSNP: rs121913529
rs121913529
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE G12D and Q61H are among the most prevalent cancer-causing mutations at the P-loop and switch 2 regions of KRAS, respectively. 31554397

2019

dbSNP: rs121913529
rs121913529
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE G12D and Q61H are among the most prevalent cancer-causing mutations at the P-loop and switch 2 regions of KRAS, respectively. 31554397

2019

dbSNP: rs121913529
rs121913529
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.790 GeneticVariation BEFREE A biopsy acquired after disease progression revealed the original SDC4-ROS1 fusion along with a KRAS point mutation (p.G12D).We reviewed the related literature to determine the frequency of gene mutations in non-small cell lung cancer patients. 28971587

2018

dbSNP: rs121913529
rs121913529
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.790 GeneticVariation BEFREE A doxycycline-inducible mouse model of KRAS (G12D) driven NSCLC and patient data was analyzed from multiple publicly accessible databases including TCGA, CCLE, NCBI GEO and Project Achilles. 26173780

2015

dbSNP: rs121913529
rs121913529
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.100 GeneticVariation BEFREE A KRAS G12A mutation was found in tumor removed from the finger. 22317887

2012

dbSNP: rs121913529
rs121913529
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary
0.010 GeneticVariation BEFREE A KRAS G12V mutation was detected in the plasma of 1 patient with stage IVA papillary carcinoma whose tissue contained the same mutation. 29498908

2018

dbSNP: rs121913529
rs121913529
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: rs121913529
rs121913529
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion
0.020 GeneticVariation BEFREE Activation of ERK2, but not ERK1, also occurs only in K-Ras(G12D)-mutated PDECs cultured in three-dimensions and is a necessary intracellular signaling event for invasion based upon pharmacologic and short hairpin RNA (shRNA) inhibition. 22160930

2012

dbSNP: rs121913529
rs121913529
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.100 GeneticVariation BEFREE Adenoviral vectors containing the specific ribozymes with downstream suicide gene were constructed and then infection with the adenoviruses specifically downregulated KRAS G12V expression and killed KRAS G12V-harboring cancer cells additively upon pro-drug treatment, but it did not affect the growth of wild-type KRAS-expressing cells. 28153088

2017

dbSNP: rs121913529
rs121913529
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE Adenoviral vectors containing the specific ribozymes with downstream suicide gene were constructed and then infection with the adenoviruses specifically downregulated KRAS G12V expression and killed KRAS G12V-harboring cancer cells additively upon pro-drug treatment, but it did not affect the growth of wild-type KRAS-expressing cells. 28153088

2017

dbSNP: rs121913529
rs121913529
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.100 GeneticVariation BEFREE Administration of a CXCL16-neutralizing antibody to KRAS(G12D) mice reduced activation of PI3K signaling to AKT and NF-κB, blocking carcinogenesis. 25683115

2015

dbSNP: rs121913529
rs121913529
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma
0.070 GeneticVariation BEFREE After microdissecting and testing the adenocarcinoma and neuroendocrine components separately, it was found that the adenocarcinoma was positive for KRAS G12C mutation and the neuroendocrine component was positive for KRAS G12D mutation. 27597976

2016

dbSNP: rs121913529
rs121913529
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
0.100 GeneticVariation BEFREE After subsequent sequence optimization, we successfully generated KRpep-2d (Ac-RRRRCPLYISYDPVCRRRR-NH<sub>2</sub>) that inhibited enzyme activity of K-Ras(G12D) with IC<sub>50</sub> = 1.6 nM and significantly suppressed ERK-phosphorylation, downstream of K-Ras(G12D), along with A427 cancer cell proliferation at 30 μM peptide concentration. 28153726

2017