Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The inducible somatic KRAS mutation (G12D) was observed in nine (36%) of CRC patients, and in two (13.3%) of adenoma patients. 31692030

2020

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE KRAS G12D point mutation plays an important role in the incidence of non-small-cell lung cancer (NSCLC) as well as colorectal cancer, pancreatic cancer and breast cancer. 30876538

2019

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The results of the KRAS mutational analysis have shown that the majority of somatic mutations in the KRAS affect only one codon, mainly codon 12(p.G12D) with low frequency in adenomas (13.3%) versus CRCs (36%). 30997628

2019

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The US Food and Drug Administration approved a liquid biopsy test for EGFR-activating mutations in patients with non-small-cell lung cancer as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in non-small-cell lung cancer. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30883505

2019

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
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Using the LA2 K-Ras G12D-induced model for lung cancer, we show that Kif2b expression reduces the number of chromosome segregation defects but does not change the incidence of lung tumor lesions. 31179849

2019

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The US FDA approved a liquid biopsy test for EGFR activating mutations in patients with non-small cell lung cancer (NSCLC) as a companion diagnostic for therapy selection. ctDNA also allows for the identification of mutations selected by treatment such as EGFR T790M in NSCLC. ctDNA can also detect mutations such as KRAS G12V in colorectal cancer and BRAF V600E/V600K in melanoma. 30335711

2018

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE This CLN-Ohi-MB biochip could quantify single-point mutations in KRAS mRNA (G12C, G12D, G12V) in pancreatic cancer cell-derived EVs and single-point mutations in EGFR mRNA (L858R and T790M) in lung cancer cell-derived EVs with high specificity, not achievable by conventional molecular probes. 30145409

2018

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE Moreover, comparison of the survival of patients with tumors harboring G12V/A KRAS mutations with those harboring wild-type KRAS gene revealed that G12V/A KRAS mutations are prognostic biomarker for inferior PFS and OS in patients with mCRC treated with bevacizumab in univariate as well as multivariable analyses. 26662311

2016

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Co-administration of BI-2536 and fasudil either in the LSL-KRAS(G12D) mouse model or in a patient tumour explant mouse model of KRAS-mutant lung cancer suppresses tumour growth and significantly prolongs mouse survival, suggesting a strong synergy in vivo and a potential avenue for therapeutic treatment of KRAS-mutant cancers. 27193833

2016

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 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: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE In this study, we have investigated the delivery and transfection of wild-type (wt-) p53 and microRNA-125b (miR-125b) expressing plasmid DNA, in SK-LU-1 human lung adenocarcinoma cells as well as in Kras(G12D)/p53(fl/fl) (KP) genetically engineered mouse model of lung cancer. 26686386

2016

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The dominant oncogenic mutations of KRAS are single amino acid substitutions at codon 12, in particular G12D and G12V present in 60% to 70% of pancreatic cancers and 20% to 30% of colorectal cancers. 26701267

2016

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 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: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE We further observed that oncogenic cooperation between KRAS(G12D) and PIK3CA(H1047R) was accompanied by PI3Kα-mediated regulation of c-MYC, GSK3β, p27(KIP1), survivin, and components of the RB pathway, resulting in accelerated cell division of human or mouse lung cancer-derived cell lines. 26567140

2015

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE The increased cell survival, invasion, intravasation, and specific molecular regulation observed in KRas G12V tumors is consistent with the higher aggressiveness observed in patients with CRC expressing this oncogene. 25359494

2015

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Transgenic expression of activated Kras(G12D) in mouse respiratory epithelium is sufficient to induce lung adenocarcinomas; however, transcriptional mechanisms regulated by K-Ras during the initiation of lung cancer remain poorly understood. 24213573

2014

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE This case suggests possible eradication of the G12D KRAS lung cancer clones by concurrent chemoradiation with panitumumab. 23917487

2013

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE In contrast, in KRAS-mutant CRC cells (DLD-1(G13D) and SW480(G12V)), KRAS knocked-down by KRAS-siRNA led to ERCC1 upregulation and increased oxaliplatin resistance. 23209813

2012

dbSNP: rs121913529
rs121913529
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.800 GeneticVariation BEFREE KRAS codon 12 mutations (in particular, c.35G>T), but not codon 13 mutations, are associated with inferior survival in BRAF wild-type colorectal cancer. 22753589

2012

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE Using an inducible LSL-KRAS(G12D) model of lung cancer in vivo, we show a transient upregulation of Notch pathway activity in early tumor precursor lesions. 21994468

2011

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE This study demonstrates an association between TRAIL resistance to apoptosis in human pancreatic and lung cancer cell lines and G12D K-ras(12) mutation. 20848283

2011

dbSNP: rs121913529
rs121913529
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung
0.800 GeneticVariation BEFREE To explore the potential interaction between TSC1 and KRAS activation in lung cancer, mice in which Tsc1 loss and Kras(G12D) expression occur in a small fraction of lung epithelial cells were generated. 19966866

2010