|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
The canonical p53 hotspot mutants R175H and R273H, for example, confer upon tumors a metastatic phenotype in murine models of mutant p53.
|
31067569 |
2020 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
Intriguingly, Cer-RUB nanomicelle treatments restored p53-dependent tumor suppression and sensitivity to cisplatin in OVCAR-3 ovarian cancer cells and xenograft tumors carrying p53 R248Q mutation.
|
31645443 |
2020 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The present finding indicates that the TP53 p.R337H germline mutation is uncommon in patients with EPN in Brazil and screening of pediatric patients RELA fusion EPN may be informative to better understand the role of TP53 germline mutations in the development and prognosis of these tumors.
|
31728854 |
2020 |
|
rs762846821
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In all components (bilateral serous borderline tumors, low-grade serous carcinoma and mesonephric-like adenocarcinoma), an identical KRAS mutation was detected (NM_004985.4): c.35G>A, p.(G12D) proving a clonal association between the serous and mesonephric-like components and excluding a collision neoplasm.
|
30575604 |
2020 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
Previously, we reported that suppression of ceramide glycosylation restored wild-type p53 protein and tumor suppressing function in cancer cells heterozygously carrying p53 R273H, a hot-spot missense mutation; however, the mechanisms underlying the control of mutant protein expression remain elusive.
|
30578766 |
2019 |
|
rs28934578
|
|
|
0.780 |
GeneticVariation |
BEFREE |
These findings suggest that TP53 somatic mutations, particularly at codon p.R175H, are enriched in tumors with infiltrating immune cells.
|
31637877 |
2019 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Moreover, a cancer-derived ATF3 mutant (R88G) devoid of ubiquitination failed to prevent p53 from MDM2-mediated degradation and thus was unable to activate the tumor suppressor.
|
31796886 |
2019 |
|
rs121912664
|
|
|
0.100 |
GeneticVariation |
BEFREE |
We investigated tumor profile data and outcomes of individuals and their close relatives with the TP53 p.R337H germline mutation.
|
30974190 |
2019 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.
|
30760578 |
2019 |
|
rs55819519
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Neither tumor stained with antibody to IDH-1 (R132H).
|
31677487 |
2019 |
|
rs762846821
|
|
|
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 |
|
rs1131691021
|
|
|
0.060 |
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 |
|
rs879253942
|
|
|
0.040 |
GeneticVariation |
BEFREE |
MYD88 p.L265P and CD79B p.Y196C/H mutations were analyzed in diffuse large B-cell lymphoma (DLBCL) patients whose tumor samples were available (N = 29).
|
31436356 |
2019 |
|
rs1057519975
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The objective of the study was to check whether a polymorphism in the RAD51 gene (135 G>C), Ku70 protein expression, and tumor microenvironment: proliferation rate measured by BrdUrdLI and Ki-67LI, hypoxia (glucose transporter-1 expression), P53 protein expression, and DNA ploidy can influence DNA repair capacity, the factors contributing to patient overall survival (OS) and the incidence of recurrences and metastases.
|
30289394 |
2019 |
|
rs587780073
|
|
|
0.020 |
GeneticVariation |
BEFREE |
MYD88 p.L265P and CD79B p.Y196C/H mutations were analyzed in diffuse large B-cell lymphoma (DLBCL) patients whose tumor samples were available (N = 29).
|
31436356 |
2019 |
|
rs78378222
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A noncoding polymorphism (rs78378222) in TP53, carried by scores of millions of people, was previously associated with moderate risk of brain tumors and other neoplasms.
|
31699989 |
2019 |
|
rs1057519976
|
|
|
0.010 |
GeneticVariation |
BEFREE |
FOXL2 mutation analysis of both the morphologically low-grade and high-grade areas in 4 of 5 cases confirmed the presence of missense point mutation, c.402C>G, p.(Cys134Trp), providing conclusive evidence that the high-grade component represents transformation of typical AGCT rather than the coexistence of another sex cord-stromal tumor, such as juvenile granulosa cell tumor, which has been suggested for such neoplasms.
|
31162286 |
2019 |
|
rs1131691036
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The objective of the study was to check whether a polymorphism in the RAD51 gene (135 G>C), Ku70 protein expression, and tumor microenvironment: proliferation rate measured by BrdUrdLI and Ki-67LI, hypoxia (glucose transporter-1 expression), P53 protein expression, and DNA ploidy can influence DNA repair capacity, the factors contributing to patient overall survival (OS) and the incidence of recurrences and metastases.
|
30289394 |
2019 |
|
rs730882026
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MYD88 p.L265P and CD79B p.Y196C/H mutations were analyzed in diffuse large B-cell lymphoma (DLBCL) patients whose tumor samples were available (N = 29).
|
31436356 |
2019 |
|
rs754332870
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Liquid biopsy profiling of circulating tumor DNA revealed the acquisition of KRAS proto-oncogene, GTPase (<i>KRAS</i>) p.G12C mutation, indicating the occurrence of another resistance mechanism to erlotinib.
|
31186738 |
2019 |
|
rs28934576
|
|
|
0.780 |
GeneticVariation |
BEFREE |
TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers.
|
30126368 |
2018 |
|
rs11540652
|
|
|
0.770 |
GeneticVariation |
BEFREE |
We show that the most common mutp53 allele R248Q (p53<sup>Q</sup>) exerts gain of function (GOF) and creates tumor dependence in mouse CRC models. mutp53 protein binds Stat3 and enhances activating Stat3 phosphorylation by displacing the phosphatase SHP2.
|
30107178 |
2018 |
|
rs121912651
|
|
|
0.760 |
GeneticVariation |
BEFREE |
Expression of the dominant-negative p53 R248W mutant due to TM significantly reduced the transactivation of several established p53 target genes that mediate the tumor-suppressor function, including <i>CDKN1A</i> (p21) and <i>BBC3</i> (PUMA).
|
29666243 |
2018 |
|
rs28934575
|
|
|
0.740 |
GeneticVariation |
BEFREE |
TP53 G245C and R273H point mutations are two of the most frequent mutations in tumors and have been verified in several different cancers.
|
30126368 |
2018 |
|
rs1042522
|
|
|
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 |