rs112445441, KRAS

N. diseases: 32
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant Neoplasms
CUI: C0006826
Disease: Malignant Neoplasms
0.010 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
melanoma
CUI: C0025202
Disease: melanoma
0.010 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
Lymphoma, Follicular
CUI: C0024301
Disease: Lymphoma, Follicular
0.010 GeneticVariation BEFREE Comparative whole exome sequencing was then performed, which identified a KRAS p.G13D mutation in the LCS that was not present in the FL. 30322385 2018
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
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
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
Lymphoma, T-Cell, Cutaneous
CUI: C0079773
Disease: Lymphoma, T-Cell, Cutaneous
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
Mycosis Fungoides
CUI: C0026948
Disease: Mycosis Fungoides
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
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
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
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
Autoimmune Lymphoproliferative Syndrome
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007
Hematologic Neoplasms
CUI: C0376545
Disease: Hematologic Neoplasms
0.010 GeneticVariation BEFREE We show here that the salient features of ALPS as well as a predisposition to hematological malignancies can be caused by a heterozygous germline Gly13Asp activating mutation of the NRAS oncogene that does not impair CD95-mediated apoptosis. 17517660 2007
Hypoglycemia
CUI: C0020615
Disease: Hypoglycemia
0.010 GeneticVariation BEFREE We found K-ras(G13D) mutation to occur at far greater incidence in cells derived from xenografted tumors or exposed to conditions of combined hypoxia and hypoglycemia in vitro. 16166287 2005
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 GeneticVariation BEFREE Target sequencing analysis revealed, both in primary tumor and metastasis, a pathogenic KRAS gene missense mutation c.38G > A p.(Gly13Asp) and a likely pathogenic CTNNB1 gene missense mutation c.94G > A p.(Asp32Asn). 31823050 2020
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
Neoplasm Metastasis
CUI: C0027627
Disease: Neoplasm Metastasis
0.020 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
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 Association between KRAS G13D mutations and anastomotic recurrence in colorectal cancer: Two case reports. 30896620 2019
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 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 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
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