rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Beneficial effects of sorafenib on tumor progression, but not on radioiodine uptake, in patients with differentiated thyroid carcinoma. 19773371 2009
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Hyperactive Ras in developmental disorders and cancer. 17384584 2007
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Selumetinib-enhanced radioiodine uptake in advanced thyroid cancer. 23406027 2013
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.700 CausalMutation CLINVAR Phase II trial of sorafenib in metastatic thyroid cancer. 19255327 2009
Thymoma
CUI: C0040100
Disease: Thymoma
0.010 GeneticVariation BEFREE One thymoma and one thymic carcinoma harbored KRAS mutations (G12A and G12V, respectively), and one thymoma had a G13V HRAS mutation. 19861435 2009
Stomach Carcinoma
CUI: C0699791
Disease: Stomach Carcinoma
0.700 GeneticVariation UNIPROT
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
Sezary Syndrome
CUI: C0036920
Disease: Sezary Syndrome
0.010 GeneticVariation BEFREE One mycosis fungoides and one pleomorphic CTCL harbored a KRAS(G13D) mutation; one Sézary syndrome and one CD30(+) CTCL harbored a NRAS(Q61K) amino acid change. 21209378 2011
Secondary Neoplasm
CUI: C2939419
Disease: Secondary Neoplasm
0.010 GeneticVariation BEFREE Thus, a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) in primaries and metastases can be defined as benchmarks for routine KRAS analyses. 19679400 2009
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
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Association of KRAS p.G13D mutation with outcome in patients with chemotherapy-refractory metastatic colorectal cancer treated with cetuximab. 20978259 2010
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE This meta-analysis demonstrates no significant difference between KRAS G13D and other KRAS MT tumours in terms of treatment benefit from anti-EGFR mAbs for mCRC. 26812186 2016
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Patients who had mCRC with the KRAS p.G13D mutation appeared to benefit more from cetuximab than patients who had tumors with KRAS codon 12 mutations. 22972628 2013
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Association of KRAS G13D tumor mutations with outcome in patients with metastatic colorectal cancer treated with first-line chemotherapy with or without cetuximab. 22734028 2012
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE Randomized phase II study of cetuximab versus irinotecan and cetuximab in patients with chemo-refractory KRAS codon G13D metastatic colorectal cancer (G13D-study). 27878354 2017
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
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
Secondary malignant neoplasm of colon and/or rectum
0.090 GeneticVariation BEFREE This retrospective pooled analysis suggests comparable efficacy of cetuximab-based and bevacizumab-based first-line therapy in patients with p.G13D mutant mCRC. 22441566 2012
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
RAS-ASSOCIATED AUTOIMMUNE LEUKOPROLIFERATIVE DISORDER
0.700 CausalMutation CLINVAR
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
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