|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results indicate a remarkable application of R72P genotyping in the clinical setting: refine patient subclassification to identify those with an adverse clinical course despite tumour free lymph node status.
|
29286914 |
2018 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Adrenocortical tumors associated with the TP53 p.R337H germline mutation can be identified during child-care consultations.
|
28864397 |
2018 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Paraffin-embedded tumor tissues were subjected to FISH analysis, and the corresponding frozen tissues from the same tumors were evaluated for aCGH and/or WES for 1p/19q co-deletion and other genetic parameters, which included IDH1-R132H, ATRX, TP53, CIC, and NOTCH1 mutations and MGMT methylation status.
|
29600313 |
2018 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The tumor samples were histologically reviewed and subsequently assessed for p53 and survivin expression and the presence of the IDH R132H mutation by immunohistochemistry. p53 expression levels and survivin subcellular localization patterns were correlated with histological classification and clinical outcome.
|
29374392 |
2018 |
|
rs762846821
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours.
|
30353028 |
2018 |
|
rs762846821
|
|
|
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 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results indicate a remarkable application of R72P genotyping in the clinical setting: refine patient subclassification to identify those with an adverse clinical course despite tumour free lymph node status.
|
29286914 |
2018 |
|
rs1131691021
|
|
|
0.060 |
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 |
|
rs1131691021
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In conclusion, whilst oncogenic KRAS mutation might activate Yap in other cell types, we could find no evidence for this in myoblasts because the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours.
|
30353028 |
2018 |
|
rs121912656
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Moreover, we show that overexpression of GOF mutant p53 G245D decreases the AMP-activated protein kinase (AMPK)-mediated phosphorylation of FOXO3a, a tumor suppressive forkhead transcription factor, leading to its cytoplasmic accumulation.
|
29269868 |
2018 |
|
rs193920817
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*).
|
30039904 |
2018 |
|
rs587780076
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Tumor analysis revealed two mutations: a TP53 missense mutation c.481G>A (p. Ala161Tyr) and NCOR1 nonsense mutation c.6052C>T (p. Arg2018*).
|
30039904 |
2018 |
|
rs730882025
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The tumor was diagnosed as choroid plexus carcinoma with a novel TP53 V216M somatic mutation.
|
30099178 |
2018 |
|
rs746601313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A likely pathogenic germline TP53 mutation c.760A > G (p.I254V) was found in two tumor samples and matched nontumor tissue.
|
29769598 |
2018 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In addition, we have shown potential of CDK2 inhibitors for treatment of tumours expressing R273H mutant p53.
|
29372687 |
2017 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
In addition, exogenous Δ40p53 expression significantly suppressed cell growth in HCC cells with wild-type TP53, and in those that were mutant or null for TP53 Notably, Δ40p53α-induced tumor suppressor activity was markedly attenuated in cells expressing the hot-spot mutant Δ40p53α-R175H, which lacks the transcription factor activity of p53.
|
27980070 |
2017 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tissue culture and mouse model studies show that the presence of the arginine (R) or proline (P) coding single nucleotide polymorphism (SNP) of the tumor suppressor gene p53 at codon 72 (p53 R72P) differentially affects the responses to genotoxic insult.
|
28594296 |
2017 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Several previous studies evaluated the association between the Arg72Pro (rs1042522) polymorphism in the TP53 tumor suppressor gene and colorectal cancer (CRC).However, the results are conflicting.
|
27901479 |
2017 |
|
rs1042522
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA.
|
28351583 |
2017 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Tissue culture and mouse model studies show that the presence of the arginine (R) or proline (P) coding single nucleotide polymorphism (SNP) of the tumor suppressor gene p53 at codon 72 (p53 R72P) differentially affects the responses to genotoxic insult.
|
28594296 |
2017 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA.
|
28351583 |
2017 |
|
rs1131691014
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Several previous studies evaluated the association between the Arg72Pro (rs1042522) polymorphism in the TP53 tumor suppressor gene and colorectal cancer (CRC).However, the results are conflicting.
|
27901479 |
2017 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Contribution of the TP53 R337H mutation to the cancer burden in southern Brazil: Insights from the study of 55 families of children with adrenocortical tumors.
|
28387921 |
2017 |
|
rs762846821
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Our results showed that 21 of 34 tumors with high-grade TB had KRAS mutations (P=.001) and KRAS G12D and PIK3CA exon 9 variants were significantly associated with high-grade TB (P=.002 and .006, respectively); furthermore, tumors with KRAS mutations in exons 3 and 4 tended to have lymphovascular tumor emboli and perineural invasion (P=.044 and .049, respectively).
|
28188750 |
2017 |
|
rs878854066
|
|
|
0.100 |
GeneticVariation |
BEFREE |
ERCC1 Lys259Thr (rs735482), ERCC2 Lys751Gln (rs13181), ERCC5 His46His C>T (rs1047768), XRCC1 Arg399Gln (rs25487), TP53 Arg72Pro (rs1042522) and MDM2 309T>G (rs2279744) were analyzed on tumor DNA.
|
28351583 |
2017 |