rs121913530, KRAS

N. diseases: 63
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 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
Primary malignant neoplasm of lung
CUI: C1306460
Disease: Primary malignant neoplasm of lung
0.070 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
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Our result highlighted that the gross metabolic changes observed in G12C KRAS mutant cells growing in culture were also maintained in the derived xenograft model, suggesting that a simple in vitro cell model can give important insights into the metabolic alterations induced by cancer. 27329432 2016
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE Additionally, the specific p.G12R NRAS mutation in this case is a common somatic mutation in cancer cells, and analysis of previously reported NRAS-RASopathy cases suggests that mutations at traditionally oncogenic codons are associated with elevated cancer risk not present with mutations at other sites. 31697451 2020
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE GeLC-MRM detected KRAS mutant variants (G12D, G13D, G12V, G12S) in a panel of cancer cell lines. 22671702 2012
Primary malignant neoplasm
CUI: C1306459
Disease: Primary malignant neoplasm
0.040 GeneticVariation BEFREE G12D, G12V, G12C) of V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (K-Ras), the most promising drug target in cancer therapy, are major growth drivers in various cancers. 28153726 2017
Primary cholangiocarcinoma of intrahepatic biliary tract
0.010 GeneticVariation BEFREE Molecular studies showed one mucinous iCC with KRAS G12C mutation and no BRAF or IDH1/2 mutations. 29698701 2018
Poorly differentiated carcinoma
CUI: C0741899
Disease: Poorly differentiated carcinoma
0.010 GeneticVariation BEFREE NGS revealed a BRAF p.K601E mutation in both the clear cell papillary carcinoma and poorly differentiated carcinoma and a KRAS p.G12R mutation in the papillary carcinoma, follicular variant. 27387987 2017
polyps
CUI: C0032584
Disease: polyps
0.020 GeneticVariation BEFREE There was a strong association between germinal MUTYH mutation and KRAS Gly12Cys somatic mutation in polyps. 24470512 2014
polyps
CUI: C0032584
Disease: polyps
0.020 GeneticVariation BEFREE The analysis of MUTYH-associated polyposis cases of the EPIPOLIP cohort confirms the importance of including serrated polyps in the diagnostic work-up of patients with oligopolyposis, suggests a role for screening polyps for the somatic c.34G>T KRAS mutation, and allows the implementation of a genetic testing strategy based on population data. 24486588 2014
Papillary carcinoma, clear cell
CUI: C1720430
Disease: Papillary carcinoma, clear cell
0.010 GeneticVariation BEFREE NGS revealed a BRAF p.K601E mutation in both the clear cell papillary carcinoma and poorly differentiated carcinoma and a KRAS p.G12R mutation in the papillary carcinoma, follicular variant. 27387987 2017
Papillary and follicular adenocarcinoma
0.010 GeneticVariation BEFREE NGS revealed a BRAF p.K601E mutation in both the clear cell papillary carcinoma and poorly differentiated carcinoma and a KRAS p.G12R mutation in the papillary carcinoma, follicular variant. 27387987 2017
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.030 GeneticVariation BEFREE This study suggests that the combination of RAF and CDK4/6 inhibitors might be a novel treatment strategy for KRAS G12R mutant pancreatic cancer. 30271501 2018
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.030 GeneticVariation BEFREE These effects were tested on MiaPaCa-2 human pancreatic cancer cells carrying a K-Ras activating mutation (G12C) after exposure to individual statins (20 μM). 29262834 2017
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
0.030 GeneticVariation BEFREE Presence of the KRAS G12C mutation had 96% specificity and positive predictive value for lung adenocarcinoma, whereas G12R was 99% specific for pancreatic cancer with a positive predictive value of 86%. 23887294 2014
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Epidermal growth factor receptor blockers for the treatment of ovarian cancer. 21975775 2011
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. 19018267 2008
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Epidermal growth factor receptor blockers for the treatment of ovarian cancer. 21975775 2011
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR KRAS or BRAF mutation status is a useful predictor of sensitivity to MEK inhibition in ovarian cancer. 19018267 2008
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
0.010 GeneticVariation BEFREE We have observed unusual transverse distal phalangeal creases in two patients, one with Costello syndrome (G12S mutation in the HRAS gene) and one with cardio-facio-cutaneous (CFC) syndrome or possibly Noonan syndrome (Q22E mutation in the KRAS gene). 17324647 2007
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: 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
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: 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