|
Costello syndrome (disorder)
|
|
0.840 |
GeneticVariation
|
BEFREE |
In the current study, we identified four mutations (p.G12S, p.G12A, p.G12C and p.G12D) in 21 patients and analyzed the associated clinical manifestations of CS in these individuals.
|
21850009 |
2011 |
|
Costello syndrome (disorder)
|
|
0.840 |
GeneticVariation
|
BEFREE |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
|
28455154 |
2017 |
|
Costello syndrome (disorder)
|
|
0.840 |
GeneticVariation
|
BEFREE |
Whole exome sequencing (WES) revealed a previously well established, disease-causing heterozygous likely pathogenic variant in the Harvey rat sarcoma viral oncogene homolog (HRAS)-gene (c.35G > C, p. G12A, rs104894230), which implied the clinical diagnosis of Costello syndrome (CS; OMIM#190020.0004).
|
30885829 |
2019 |
|
Costello syndrome (disorder)
|
|
0.840 |
GeneticVariation
|
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
Organoid Nevus Phakomatosis
|
|
0.720 |
GeneticVariation
|
BEFREE |
Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome.
|
22683711 |
2012 |
|
Organoid Nevus Phakomatosis
|
|
0.720 |
GeneticVariation
|
BEFREE |
We report a 6-year-old girl diagnosed with Schimmelpenning syndrome due to a postzygotic KRAS G12D mutation.
|
30443000 |
2019 |
|
melanoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation.
|
27863474 |
2016 |
|
Esophageal carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
We developed two mouse models of esophageal cancer by inoculating immunocompetent mice with syngeneic esophageal cell lines transformed by cyclin-D1 or mutant HRAS(G12V) and loss of p53.
|
21869822 |
2011 |
|
Mammary Neoplasms
|
|
0.710 |
GeneticVariation
|
BEFREE |
Application of these signatures to breast tumor gene expression data identified two novel discrete phenotypes characterized by concordant, aberrant activation of either the HER2, IGF1R, and AKT pathways ("the survival phenotype") or the EGFR, KRAS (G12V), RAF1, and BAD pathways ("the growth phenotype").
|
28446242 |
2017 |
|
Leukemia, Myelocytic, Acute
|
|
0.710 |
GeneticVariation
|
BEFREE |
KRAS (G12D) cooperates with AML1/ETO to initiate a mouse model mimicking human acute myeloid leukemia.
|
24480914 |
2014 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C.
|
27591291 |
2016 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Scintigraphic tumor/muscle image intensity ratios for complementary [(111)In](n)-PDAP(m)-KRAS2 G12D probes increased from 3.1 +/- 0.2 at n = 2, m = 1, to 4.1 +/- 0.3 at n = 8, m = 3, to 6.2 +/- 0.4 at n = 16, m = 4, in AsPC1 (G12D) xenografts.
|
20232877 |
2010 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Importantly, FGTI-2734 inhibited the growth of xenografts derived from four patients with pancreatic cancer with mutant KRAS (2 G12D and 2 G12V) tumors.
|
31227505 |
2019 |
|
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
|
|
0.100 |
GeneticVariation
|
BEFREE |
A KRAS G12A mutation was found in tumor removed from the finger.
|
22317887 |
2012 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Studies in cultured cells and zebrafish model show that UBTOR inhibits mTOR signaling by stabilizing the mTOR complex component DEPTOR, and ubtor gene disruption result in higher mTOR activity and aggravate HRAS(G12V) induced neoplasia in the zebrafish.
|
30080879 |
2018 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Treatment of Caggs-Cre/FR-Hras(G12V) mice with TPA alone was sufficient to trigger papilloma development with a shorter latency and an ∼10-fold greater tumor burden than DMBA/TPA-treated WT-controls.
|
24240680 |
2014 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here, we established isogenic cell line models to systematically investigate the impact of KRAS(G12V) on tumor growth in mouse A431 xenograft models as well as on various modes of action triggered by EGFR-Abs in vitro.
|
22496619 |
2012 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
We analyzed tumor growth in mice that expressed the oncogenic form of KRAS (KRAS(G12D)) in pancreatic precursor cells, as well as sst2+/- and sst2-/-, and in crossed KRAS(G12D);sst2+/- and KRAS(G12D);sst2-/- mice.
|
25683115 |
2015 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Since hypoxic microenvironments select for tumor cells with diminished therapeutic response, we investigated whether hypoxia unequally increases resistance to 3-BrPA in wt p53 MelJuso melanoma harbouring (Q61L)-mutant NRAS and wt BRAF, C8161 melanoma with (G12D)-mutant KRAS (G464E)-mutant BRAF, and A549 lung carcinoma with a KRAS (G12S)-mutation.
|
27863474 |
2016 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
In vivo treatment of xenografted human HRAS(G12V)-transformed human epithelial kidney or syngenic mice tumors by decitabine blocked tumor growth induced TRAIL expression and apoptosis.
|
21697397 |
2011 |
|
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 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three of the four tumors had a BRAF (V600E) driver mutation, an EGFR (del E746-T751/S752V) driver mutation, or driver mutations in both EGFR (E709G) and KRAS (G12V).
|
29624782 |
2018 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We demonstrated that transient transgenic expression of KRAS(G12V) in putative neural stem and/or progenitor cells induced brain tumorigenesis.
|
25644510 |
2015 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We found that TRAIL expression is consistently downregulated in HRAS(G12V)-transformed cells in stepwise tumorigenesis models derived from four different tissues due to DNA hypermethylation of CpG clusters within the TRAIL promoter.
|
21697397 |
2011 |