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: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.820 GeneticVariation BEFREE We report on an infant with JMML with somatic KRAS G12A mutation and monosomy 7 who achieved sustained remission following azacitidine monotherapy. 31250550

2019

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.820 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: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. 21169357

2011

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. 19358724

2009

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR KRAS mutation analysis in ovarian samples using a high sensitivity biochip assay. 19358724

2009

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR Correlation of clinical features with the mutational status of GM-CSF signaling pathway-related genes in juvenile myelomonocytic leukemia. 19047918

2009

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR Mutations of FLT3, NRAS, KRAS, and PTPN11 are frequent and possibly mutually exclusive in high hyperdiploid childhood acute lymphoblastic leukemia. 17910045

2008

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
0.820 GeneticVariation UNIPROT Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 17332249

2007

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 17332249

2007

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome. 17704260

2007

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR Spontaneous improvement of hematologic abnormalities in patients having juvenile myelomonocytic leukemia with specific RAS mutations. 17332249

2007

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. 15696205

2005

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
A 0.820 CausalMutation CLINVAR KRAS mutations and primary resistance of lung adenocarcinomas to gefitinib or erlotinib. 15696205

2005

dbSNP: rs121913529
rs121913529
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
Juvenile Myelomonocytic Leukemia
T 0.820 CausalMutation CLINVAR Somatic PTPN11 mutations in childhood acute myeloid leukaemia. 15842656

2005