Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Among them, <i>β</i>-catenin gene CTNNB1 and TP53 gene are frequently mutated in ACC samples.
|
31057613 |
2019 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic analysis of MEN1 and other ACC associated genes, loss of heterozygosity (LOH) of MEN1 locus, immunohistochemistry staining of menin, P53 and β-catenin in ACC tissue were performed.
|
30721134 |
2019 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This TP53 gene mutation may be pathogenic and lead to composite malignancies of ACC and neuroblastoma.
|
29746440 |
2019 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
We searched for possible TP53 gene defects and assessed nationwide incidence of ACC.
|
30980285 |
2019 |
Aplasia Cutis Congenita
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
AEBN and arecoline induced dyslipidemia by downregulating AMPK (Thr-172) and activating ACC (Ser-79); they also downregulated tumor suppressor p53 (Ser-15).
|
31645006 |
2019 |
Aplasia Cutis Congenita
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data indicate that combined assessment of ATM and p53 expression can serve as a useful prognostic marker for assessing survival rate in patients with ACC of the salivary glands.
|
29978608 |
2018 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
RYGB significantly attenuated the activation of mTORC1 signaling and inhibition of tumor suppressor genes: p21, p27, and p53 in pancreatic ACC.
|
30305629 |
2018 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Adrenocortical carcinomas (ACC) are very rare tumors related to TP53 mutations mostly in childhood onset cases.
|
28421464 |
2017 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
Here, we evaluated the antitumor effect of a novel small-molecule inhibitor of the MDM2-p53 interaction (MI-773) combined with cisplatin in patient-derived xenograft (PDX) ACC tumors.<b>Experimental Design:</b> Therapeutic strategies with MI-773 and/or cisplatin were evaluated in SCID mice harboring PDX ACC tumors (UM-PDX-HACC-5) and in low passage primary human ACC cells (UM-HACC-2A, -2B, -5, -6) <i>in vitro</i> The effect of therapy on the fraction of cancer stem cells (CSC) was determined by flow cytometry for ALDH activity and CD44 expression.<b>Results:</b> Combined therapy with MI-773 with cisplatin caused p53 activation, induction of apoptosis, and regression of ACC PDX tumors.
|
27550999 |
2017 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The low rate of cure of adrenocortical carcinomas (ACC) in children and adults is related to germ line TP53 mutation, late diagnosis, incomplete surgical resection, and lack of an efficient adjunctive therapy.
|
29372993 |
2017 |
Aplasia Cutis Congenita
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Enrichment analysis for mRNA expression in ACC samples with or without HSD17B4 overexpression showed significant change in p53 pathway.
|
29383116 |
2017 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
Posttreatment analysis revealed that although both AMG 232 and radiotherapy alone induced TP53 tumor-suppressive activities, combination therapy amplified this response with potent induction of apoptosis after combination treatment.<b>Conclusions:</b> These data identify that MDM2 inhibition can provide potent radiosensitization in TP53-WT ACC.
|
28659312 |
2017 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we review ∼15 years of research into an unusual germline TP53 mutation (p.R337H) that began with its detection in children with adrenocortical carcinoma (ACC), a remarkably rare childhood cancer that is associated with poor prognosis.
|
27663983 |
2016 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
FISH analysis revealed deletion of the TP53 region in 53 % of primary ACCs and in 50 % of metastases.
|
26586531 |
2016 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The recent description of the molecular landscape of pediatric ACCs provided insight into differences of tumors arising in patients with and without TP53 germline mutation.
|
26660147 |
2016 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In summary, we have shown that Wnt/β-catenin signaling pathway dysregulation and mutational inactivation of TP53 are common genetic events in sarcomatoid ACCs, a subset of which being monoclonal in origin.
|
27589897 |
2016 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Somatic mutations in ACC-associated genes included TP53 (8/41 tumors, 19.5%) and CTNNB1 (4/41, 9.8%).
|
25490274 |
2015 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We provide a genotype-phenotype analysis of TP53 mutations in pediatric ACC and propose a model for tissue-specific effects based on adrenocortical ontogeny.
|
25584008 |
2015 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The TP53 mutation detection rate in children presenting with ACC or choroid plexus carcinomas, and in females with breast cancer before age 31 years, without additional features indicative of LFS, was 45%, 42% and 6%, respectively.
|
26014290 |
2015 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Akin to other forms of TNBC, the most frequently mutated gene found in breast ACCs was TP53 (one pure and six mixed cases).
|
26011570 |
2015 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
We thus aimed at analyzing whether activation of mTOR with a concomitant loss of p53 may initiate ACC.
|
26683340 |
2015 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Evaluation of the role of TP53 polymorphisms in adult patients with ACC.
|
24566897 |
2014 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A total of 114 patients with confirmed ACC evaluated in the University of Michigan Endocrine Oncology Clinic were prospectively offered genetic counseling and TP53 genetic testing, regardless of age at diagnosis or family history.
|
23175693 |
2013 |
Aplasia Cutis Congenita
|
0.100 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical examination of the ACC revealed a triple negative status (i.e., negativity for estrogen receptor, progesterone receptor and HER2 protein) and positivity for p53.
|
23374397 |
2013 |
Aplasia Cutis Congenita
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
TP53 p.R337H testing should be offered to Brazilian children diagnosed with ACC and choroid plexus carcinoma.
|
24122735 |
2013 |