Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Although this mutation in KRAS accounts for 11% of all KRAS mutations in cancer, it is the most prominent KRAS mutant in lung cancer suggesting that G12C-specific inhibitors may provide a new approach for treating the subset of lung cancer patients harboring this mutant allele. 30366101

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE We developed an integrative pharmacogenomics analysis to identify potential drug targets to overcome MEK/ERK inhibitor resistance in lung cancer cell lines with KRAS(G12C) mutation (n = 12). 31668570

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Adding mTOR and IGF1R inhibitors to ARS-1620 greatly improves its effectiveness on KRAS-G12C mutant lung cancer cells in vitro and in mouse models. 31534020

2019

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE To substantiate these results, an allitinib-sensitive lung cancer-derived cell line (H292) was transfected with plasmids carrying the two most common activating KRAS mutations (p.G12D and p.G12S). 26920031

2016

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation. 27863474

2016

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Next generation sequencing performed on the Ion Torrent platforms by the Ion Ampliseq Colon and Lung Cancer panel showed a similar genomic profile in both neoplastic sites with a concurrent KRAS G12C mutation. 25900221

2015

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Gene-expression profiles in lung cancer cell lines and surgically resected lung AC revealed that KRAS-G12C mutants had an epithelial to mesenchymal transition and a KRAS-independent phenotype. 25170638

2014

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation BEFREE Our study demonstrated that TRAIL significantly suppressed cell survival, by inducing apoptosis in a dose-dependent manner, in the pancreatic cancer BxPC-3 (wild type G12) and lung cancer A549 (G12S) cell lines. 20848283

2011

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.880 GeneticVariation UNIPROT

dbSNP: rs121913530
rs121913530
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
A 0.880 CausalMutation CLINVAR

dbSNP: rs121913530
rs121913530
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 GeneticVariation BEFREE In the present study, we report 2 patients with somatic mosaicism for oncogenic NRAS mutations (G12D and G12S) associated with the development of JMML. 22753870

2012

dbSNP: rs121913530
rs121913530
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.810 GeneticVariation UNIPROT Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 17332249

2007

dbSNP: rs121913530
rs121913530
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.810 CausalMutation CLINVAR

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE We develop a genotype-based strategy that identifies CK2 as a promising co-target in KRAS(G12C) mutant NSCLC by using available pharmacogenomics gene expression datasets. 31668570

2019

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE KRAS G12C NSCLC Models Are Sensitive to Direct Targeting of KRAS in Combination with PI3K Inhibition. 30327306

2019

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE KRAS G12C, the most common RAS mutation found in non-small-cell lung cancer, has been the subject of multiple recent covalent small-molecule inhibitor campaigns including efforts directed at the guanine nucleotide pocket and separate work focused on an inducible pocket adjacent to the switch motifs. 28781083

2017

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE KRAS G12C mutation as a poor prognostic marker of pemetrexed treatment in non-small cell lung cancer. 28407465

2017

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Recently, G12C KRAS mutation in isogenic NSCLC cell line has been shown to be a key player in promoting metabolic rewiring mainly through the regulation of glutamine metabolism to fuel growth and proliferation. 27329432

2016

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Isogenic NSCLC cell clones expressing wild-type (WT) and mutated (G12C) KRAS were used to determine the response to BEZ235 and BKM120. 27283493

2016

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The present studies demonstrate that silencing MUC1-C in A549/KRAS(G12S) and H460/KRAS(Q61H) NSCLC cells is associated with downregulation of AKT signaling and inhibition of growth. 25245423

2014

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
T 0.800 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968

2014

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE Low frequency KRAS active (G12R) and EGFR kinase domain mutations (G719A) were identified in one NSCLC patient. 24200637

2014

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE In NSCLC GLY12Cys mutations, resulting from a codon 12 GGT>TGT substitution, were observed in 44% compared to 10% for CRC. 24331409

2014

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 GeneticVariation BEFREE The dominant role of G12C over other KRAS mutation types in the negative prediction of efficacy of epidermal growth factor receptor tyrosine kinase inhibitors in non-small cell lung cancer. 23313110

2013

dbSNP: rs121913530
rs121913530
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma
0.800 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