rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE Recruitment, particularly of patients with the rare G13D mutation, will demonstrate the ability for international collaboration to run prospective trials in small colorectal cancer molecular subgroups. 27246726 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.020 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
Adenocarcinoma
CUI: C0001418
Disease: Adenocarcinoma
0.020 GeneticVariation BEFREE We report here two cases of ALK-rearranged adenocarcinomas harboring concomitant exon 2 K-RAS mutations (G13D and Q61H). 26898615 2016
Squamous cell carcinoma
CUI: C0007137
Disease: Squamous cell carcinoma
0.010 GeneticVariation BEFREE Analysis indicated one SCC patient (2.3%) exhibited a KRAS p.G13D mutation, and one adenocarcinoma patient (2.3%) exhibited a BRAF p.V600E mutation. 27573925 2016
APLASIA CUTIS CONGENITA WITH EPIBULBAR DERMOIDS
0.010 GeneticVariation BEFREE Both diseases were proposed to represent mosaic disorders, but only very recently whole-genome sequencing has led to the identification of somatic KRAS mutations, p.Leu19Phe and p.Gly13Asp, in affected tissue from two individuals with OES. 26970110 2016
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
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Cetuximab treatment for metastatic colorectal cancer with KRAS p.G13D mutations improves progression-free survival. 26623049 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Prior to treatment there were significant metabolic differences between SW48 WT and SW48-KRAS-G13D tumors, reflecting higher oxidative stress and glucose utilization in the KRAS-G13D tumors. 26709701 2015
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
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Mutations in primary tumors were identified in three regions; KARS (G13D) and APC (R876*) in P1-2, TP53 (A161S) in P1-3, and KRAS (G12D), PIK3CA (Q546R), and ERBB4 (T272A) in P1-4. 25623536 2015
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE KRas G12V primary tumors showed Akt activation, and β5 integrin, vascular endothelial growth factor A (VEGFA), and Serpine-1 overexpression, whereas KRas G13D tumors showed integrin β1 and angiopoietin 2 (Angpt2) overexpression. 25359494 2015
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
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
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
Tumour budding
CUI: C4049272
Disease: Tumour budding
0.010 GeneticVariation BEFREE KRas G12V primary tumors had lower apoptosis (7.0 ± 1.2 vs. 7.4 ± 1.0 per field, P = 0.02), higher tumor budding at the invasion front (1.2 ± 0.2 vs. 0.6 ± 0.1, P = 0.04), and a higher percentage of C-X-C chemokine receptor type 4 (CXCR4)-overexpressing intravasated tumor emboli (49.8 ± 9.4% vs. 12.8 ± 4.4%, P < 0.001) than KRas G13D tumors. 25359494 2015
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR KRAS G13D Mutation and Sensitivity to Cetuximab or Panitumumab in a Colorectal Cancer Cell Line Model. 24558511 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Prospective enterprise-level molecular genotyping of a cohort of cancer patients. 25157968 2014
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Participating laboratories contributed information on KRAS mutation frequencies, including the G13D mutation type, as well as turnaround times for tumor block retrieval and testing. 24811330 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE Our finding that KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type CRCs in Chinese patients was not reported thus far. 25367198 2014
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE We have investigated Ca(2+) signalling in two human colorectal cancer cell lines and their isogenic derivatives in which the allele encoding oncogenic K-Ras (G13D) was deleted by homologous recombination. 24522186 2014
Malignant neoplasm of colon and/or rectum
0.040 GeneticVariation BEFREE We have investigated Ca(2+) signalling in two human colorectal cancer cell lines and their isogenic derivatives in which the allele encoding oncogenic K-Ras (G13D) was deleted by homologous recombination. 24522186 2014
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
0.700 CausalMutation CLINVAR Mutant KRAS codon 12 and 13 alleles in patients with metastatic colorectal cancer: assessment as prognostic and predictive biomarkers of response to panitumumab. 23182985 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027 2013
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Whereas, the KRAS mutation p.Gly13Asp have been detected only in MSI-H. 43.75 % of the patients harboured combined mutations in KRAS and TP53 genes and the tumor of 71.42 % of them showed TP53 overexpression. 24078161 2013