rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 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
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
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE To accomplish this, we first carried out an in silico analysis of RNA-seq databases and found that the distribution of alternative splicing isoforms of genes RPL13, HSP90B1, ENO1, EPDR1 and ZNF518B was altered in human CRC cell lines carrying the G13D KRAS mutation when compared to cell lines carrying wild-type KRAS. 27805251 2016
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE The addition of cetuximab to first-line chemotherapy seems to benefit patients with KRAS G13D-mutant tumors. 22734028 2012
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.100 GeneticVariation BEFREE Compared to patients with c.38G > A (rs112445441, p.G13D), patients with c.*4066delA (rs560890523) and c.38G > A (rs112445441, p.G13D) presented more aggressive tumors with highly invasive features. 27256640 2017
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
0.100 GeneticVariation BEFREE We aimed to study proliferation and survival effects induced by BRAF inhibition in MSI CRC cell lines harbouring distinct genetic backgrounds (BRAF V600E or KRAS G13D). 18098337 2008
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
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
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.050 GeneticVariation BEFREE The GR/RR IRS1 genotypes were associated with an increased risk of colon cancers with the KRAS2 G12D mutation (OR 2.3, 95% CI 1.5, 3.5 versus controls, OR 1.7, 95% CI 1.1, 2.6 versus KRAS2 wild type), the "no 192" IGFI genotype increased the risk of the KRAS2 G13D mutation (OR 2.3, 95% CI 1.2, 4.2 versus controls, OR 2.1, 95% CI 1.1, 4.0 versus wild type), and the DD IRS2 genotype increased the risk of the G12V KRAS2 mutation (OR 1.8, 95% CI 0.9, 3.5 versus controls, OR 2.0, 95% CI 1.0, 4.0 versus wild type). 16448675 2006
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.050 GeneticVariation BEFREE We examined the anti-proliferative effect of miR-143#12 and the mechanism in human colon cancer DLD-1 cell (G13D) and other cell types harboring K-Ras mutations. 29498789 2018
Malignant tumor of colon
CUI: C0007102
Disease: Malignant tumor of colon
0.050 GeneticVariation BEFREE The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009 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 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 The kinetics of ctDNA derived from each cancer type were monitored targeting BRAF V600R (melanoma) and KRAS G13D (colon cancer), specifically reflected the status of the patient's tumours. 31727009 2019
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
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