rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Fluorouracil, leucovorin, and oxaliplatin with and without cetuximab in the first-line treatment of metastatic colorectal cancer. 19114683 2009
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. 18794081 2008
Non-Small Cell Lung Carcinoma
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
0.700 CausalMutation CLINVAR Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. 18794081 2008
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. 19679400 2009
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Frequency and type of KRAS mutations in routine diagnostic analysis of metastatic colorectal cancer. 19679400 2009
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.050 GeneticVariation BEFREE Furthermore, EGF‑ETA was just as potent in HCT116 (KRAS G13D) and SW480 (KRAS G12V) colon cancer cell lines harbouring KRAS hyperactivating mutations when compared to KRAS wild‑type HT29 colon cancer cells. 30226622 2018
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.040 GeneticVariation BEFREE Furthermore, EGF‑ETA was just as potent in HCT116 (KRAS G13D) and SW480 (KRAS G12V) colon cancer cell lines harbouring KRAS hyperactivating mutations when compared to KRAS wild‑type HT29 colon cancer cells. 30226622 2018
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Furthermore, HNPCC CRCs had more G13D mutations than MSS (P < 0.0001), MSI-H (P = 0.02) or MSI-H tumours with hMLH1 hypermethylation (P = 0.03). 15294875 2004
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Furthermore, we observe an in vivo reduction in tumor size of gallbladder xenografts in response to Afatinib is paralleled by a reduction in the amounts of phospho-ERK, in tumors harboring KRAS (G13D) mutation but not in KRAS (G12V) mutation, supporting an essential role of the ErbB pathway. 30304546 2019
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.050 GeneticVariation BEFREE Here we report a colon cancer case carrying a novel combination of K-RAS mutations involving codon 13 (Gly to Asp) and codon 19 (Leu to Phe), on separate alleles. 25675084 2015
Colon Carcinoma
CUI: C0699790
Disease: Colon Carcinoma
0.040 GeneticVariation BEFREE Here we report a colon cancer case carrying a novel combination of K-RAS mutations involving codon 13 (Gly to Asp) and codon 19 (Leu to Phe), on separate alleles. 25675084 2015
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
0.810 GeneticVariation BEFREE Here, we present a case of JMML with a KRAS G13D mutation. 24766281 2015
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR High-throughput sequencing screen reveals novel, transforming RAS mutations in myeloid leukemia patients. 19075190 2009
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Higher metastatic efficiency of KRas G12V than KRas G13D in a colorectal cancer model. 25359494 2015
Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE Higher metastatic efficiency of KRas G12V than KRas G13D in a colorectal cancer model. 25359494 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE However, a recent report suggested that the use of cetuximab was associated with survival benefit among patients with p.G13D-mutated tumors. 22043994 2012
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE However, among the various <i>KRAS</i> mutations, that which encodes the G13D mutant protein (KRAS<sup>G13D</sup>) behaves differently; for unknown reasons, KRAS<sup>G13D</sup> CRC patients benefit from the EGFR-blocking antibody cetuximab. 31551296 2019
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE However, G12V mutations appeared to be associated with higher rates of tumor regression than G13D mutations (p=0.012). 19913317 2010
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584 2007
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE ICECREAM is a randomised, phase II, open-label, controlled trial comparing the efficacy of cetuximab alone or with irinotecan in patients with "quadruple wild type" or G13D-mutated metastatic colorectal cancer, whose disease has progressed on, or who are intolerant of oxaliplatin- and fluoropyrimidine-based chemotherapy. 27246726 2016
Leukemia, Myelocytic, Acute
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
0.700 GeneticVariation CLINVAR Implications of NRAS mutations in AML: a study of 2502 patients. 16434492 2006
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE In patients with G13D-mutated chemotherapy-refractory mCRC, there was no statistically significant improvement in disease control at 6 months with either cetuximab monotherapy or cetuximab plus irinotecan. 27114605 2016
Refractory Colorectal Carcinoma
CUI: C4688318
Disease: Refractory Colorectal Carcinoma
0.010 GeneticVariation BEFREE In this analysis, use of cetuximab was associated with longer overall and progression-free survival among patients with chemotherapy-refractory colorectal cancer with p.G13D-mutated tumors than with other KRAS-mutated tumors. 20978259 2010
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE In this analysis, use of cetuximab was associated with longer overall and progression-free survival among patients with chemotherapy-refractory colorectal cancer with p.G13D-mutated tumors than with other KRAS-mutated tumors. 20978259 2010
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Influence of KRAS p.G13D mutation in patients with metastatic colorectal cancer treated with cetuximab. 22537608 2012