rs121913530, KRAS

N. diseases: 63
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 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
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE In addition, KRAS gene exon 2 G12C presented mutation in the OSP-associated adenocarcinoma. 29879069 2018
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE Seven of 17 cases (41%) were reclassified in the adenocarcinoma with solid pattern group, which showed one KRAS G12C and one EGFR E709K + G719C double mutation in addition to mutations in TP53. 26430808 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.040 GeneticVariation BEFREE Analysis of the KRAS gene showed only a G12C variation in one large cell carcinoma (LCC) patient, whereas variants were not found in adenocarcinoma (ADC) and squamous cell carcinoma (SCC) cases. 30048458 2018
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.730 GeneticVariation CLINVAR Phase II study of the GI-4000 KRAS vaccine after curative therapy in patients with stage I-III lung adenocarcinoma harboring a KRAS G12C, G12D, or G12V mutation. 25044103 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.730 GeneticVariation BEFREE <i>KRAS p.G12C</i>, which occurs in approximately 14% of lung adenocarcinomas, 3-5% of colorectal cancers, and low levels in other solid tumors, represents an attractive therapeutic target for covalent inhibitors. 31531201 2019
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.730 GeneticVariation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.730 GeneticVariation BEFREE KRAS-G12C mutation is associated with worse DFS and OS in resected lung AC. 25170638 2014
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
0.730 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
Adenoid Cystic Carcinoma
CUI: C0010606
Disease: Adenoid Cystic Carcinoma
0.700 CausalMutation CLINVAR
Adenoma
CUI: C0001430
Disease: Adenoma
0.010 GeneticVariation BEFREE KRAS mutations were identified in 24% MUTYH-associated-polyposis vs 15% classical/attenuated familial polyposis adenomas; mutated MUTYH-associated-polyposis adenomas exhibited only c.34G>T transversions in codon 12, an alteration typically associated with oxidative DNA damage, or mutations in codon 13; neither of these mutations was found in classical/attenuated familial polyposis adenomas (P<0.001). 23599153 2013
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.020 GeneticVariation BEFREE The c.34G>T was present in 39.7% of MAP adenomas versus 1.6% of FAP adenomas (P < 0.01). 26056087 2015
Adenomatous Polyposis Coli
CUI: C0032580
Disease: Adenomatous Polyposis Coli
0.020 GeneticVariation BEFREE KRAS mutations were identified in 24% MUTYH-associated-polyposis vs 15% classical/attenuated familial polyposis adenomas; mutated MUTYH-associated-polyposis adenomas exhibited only c.34G>T transversions in codon 12, an alteration typically associated with oxidative DNA damage, or mutations in codon 13; neither of these mutations was found in classical/attenuated familial polyposis adenomas (P<0.001). 23599153 2013
Adult Diffuse Large B-Cell Lymphoma
CUI: C1332201
Disease: Adult Diffuse Large B-Cell Lymphoma
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869 1997
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
0.010 GeneticVariation BEFREE In explant cells derived from these PDX tumor models with a KRAS G12R mutation, treatment with inhibitors of CDKs (including CDK9) reduced phosphorylation of a marker of CDK9 activity (phospho-RNAPII CTD Ser2/5) and reduced viability/growth of explant cells derived from PDAC PDX models. 26934555 2016
B-CELL MALIGNANCY, LOW-GRADE
CUI: C1868683
Disease: B-CELL MALIGNANCY, LOW-GRADE
0.010 GeneticVariation BEFREE Altogether, one diffuse large B-cell lymphoma and one B-cell chronic lymphocytic leukemia (B-CLL) harbored a mutation (G12S and G12A, respectively) in the K-ras gene, and one B-CLL harbored a mutation (Q61R) in the N-ras gene. 9139869 1997
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.010 GeneticVariation BEFREE Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. 28594414 2017
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.880 GeneticVariation UNIPROT
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: Carcinoma of lung
0.880 CausalMutation CLINVAR
Carcinoma of lung
CUI: C0684249
Disease: 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
Carcinoma of lung
CUI: C0684249
Disease: 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