|
Costello syndrome (disorder)
|
|
0.750 |
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)
|
|
0.750 |
GeneticVariation
|
BEFREE |
Fetal costello syndrome with neuromuscular spindles excess and p.Gly12Val HRAS mutation.
|
28455154 |
2017 |
|
Costello syndrome (disorder)
|
|
0.750 |
GeneticVariation
|
BEFREE |
We report a patient with Costello syndrome due to a rare tandem base substitution (c.35_36GC>AA) resulting in the p.G12E missense change.
|
25133308 |
2015 |
|
Costello syndrome (disorder)
|
|
0.750 |
GeneticVariation
|
BEFREE |
Two cases with severe lethal course of Costello syndrome associated with HRAS p.G12C and p.G12D.
|
22926243 |
2012 |
|
Costello syndrome (disorder)
|
|
0.750 |
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)
|
|
0.750 |
GeneticVariation
|
CLINVAR |
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)
|
|
0.750 |
GeneticVariation
|
CLINVAR |
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.
|
16443854 |
2006 |
|
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 |
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 |
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 |
|
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 |
44% of the tumors were positive for G12D, 20% for G12V, and 10% for G12C.
|
27591291 |
2016 |
|
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 |
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 |
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 |
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 |
A KRAS G12A mutation was found in tumor removed from the finger.
|
22317887 |
2012 |
|
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 |
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 |
|
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 |
Administration of a CXCL16-neutralizing antibody to KRAS(G12D) mice reduced activation of PI3K signaling to AKT and NF-κB, blocking carcinogenesis.
|
25683115 |
2015 |
|
Carcinogenesis
|
|
0.040 |
GeneticVariation
|
BEFREE |
Reduced HRAS G12V-Driven Tumorigenesis of Cell Lines Expressing KRAS C118S.
|
25902334 |
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 |
|
Brain Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour.
|
28594414 |
2017 |