|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
One patient was diagnosed with multicentric isocitrate dehydrogenase 1 (IDH1) mutated diffuse astrocytomas harboring distinct IDH1 mutations, R132H and R132C; the latter mutation has been associated with Li-Fraumeni syndrome, which was subsequently confirmed in the patient's germline DNA and shown in additional cases with The Cancer Genome Atlas data.
|
29077933 |
2018 |
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
Twenty-eight (82%) of these variants fell within the DNA-binding domain of TP53, with an enrichment for specific variants that were not previously identified as LFS mutation hotspots, such as the p.R290H and p.N235S variants.
|
28861920 |
2017 |
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
One index case with glioblastoma multiforme (GBM) diagnosed at age 54 and had a family history comprised of a paternal aunt with GBM at age 55, carried the p53 R158H mutation, which is predicted to be functional and has previously been implicated as a cause of Li-Fraumeni syndrome.
|
20455025 |
2010 |
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
BEFREE |
However, the 14538 G>A (Arg290His) mutation was identified in a family which did not exhibit features consistent with LFS or Li-Fraumeni-like (LFL) syndrome.
|
17541742 |
2008 |
|
Li-Fraumeni Syndrome
|
|
0.740 |
GeneticVariation
|
UNIPROT |
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography.
|
17392385 |
2007 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
IDH1-R132H acts as a tumor suppressor in glioma via epigenetic up-regulation of the DNA damage response.
|
30760578 |
2019 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Neither tumor stained with antibody to IDH-1 (R132H).
|
31677487 |
2019 |
|
Neoplasms
|
|
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 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Mutated IDH1 R132H protein and H3F3A K27M mutations indicate that a substantial number of GBMc are "metastatic" or "diaschismatic" lesions.
|
30203362 |
2018 |
|
Neoplasms
|
|
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 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We prospectively analyzed the clinical data over the course of the disease, baseline MR imaging, and histological characteristics (p53 overexpression, the Ki67 proliferation index, and presence of the IDH1 R132H mutation), in glioblastomas treated in a single hospital from November 2012 to July 2014.
|
28073027 |
2017 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307).
|
26616112 |
2016 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A total of 15.3% of enrolled GBMs demonstrated loss of ATRX expression (ATRX-), 10.4% expressed an aberrant IDH1 R132H protein (IDH1+), and 48.4% exhibited p53 overexpression (p53+).
|
27478330 |
2016 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
IDH1(R132H) mutation was analysed by immunohistochemistry with the mutation-specific IDH1(R132H) antibody in 1011 patients, including 922 central nervous system (CNS) tumours and 89 non-neoplastic CNS lesions, and PCR-based direct sequencing of IDH1/2 gene mutation in 570 of these samples.
|
27780605 |
2016 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among the GBM cases it was noted that the IDH1 immunopositive tumors (R132H mutant protein; n=17) had a low MnSOD expression as opposed to IDH1 immunonegative tumors (n=106), which had high expression of MnSOD (p=0.0307).
|
26616112 |
2016 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Three GBM-O samples had IDH1 (p.R132H) mutations; two of these also demonstrated 1p/19q co-deletion and had a proneural transcriptional profile, a molecular signature characteristic of oligodendroglioma.
|
26757882 |
2016 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
A clonal IDH1 R132H mutation in the primary, a known GBM driver event, was detectable at only very low frequency in the recurrent tumour.
|
25732040 |
2015 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5.
|
26190195 |
2015 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
Tumors with NF1/Ch17 loss were predominantly adult GBM (4/5); lacked EGFR amplification (0/4), strong p53 immunolabeling (1/5), or IDH1 (R132H) protein expression (0/5); but expressed the mesenchymal marker podoplanin in 4/5.
|
26190195 |
2015 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
The model has a similar phenotype and histopathology as the original patient tumor, expresses the IDH1 (R132H) mutant protein and exhibits an alternative lengthening of telomeres phenotype.
|
25471051 |
2015 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
We found that the distribution of IDH1(R132H) , IDH1(nonR132H) , and IDH2 mutations differed between astrocytic, mixed, and oligodendroglial tumors, with an overrepresentation of IDH2 mutations in oligodendroglial phenotype and an overrepresentation of IDH1(nonR132H) in astrocytic tumors.
|
24877111 |
2014 |
|
Neoplasms
|
|
0.100 |
GeneticVariation
|
BEFREE |
LOX mRNA expression was significantly elevated in tumours of patients older than 55 years, postmenopausal patients, estrogen receptor positive tumours, and p53 negative tumours, but was unaffected by G473A genotype in tumours and breast cancer cell lines.
|
25141126 |
2014 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
We evaluated nuclear cMYC protein levels and IDH1 (R132H) by immunohistochemistry in patients with oligodendroglioma/oligoastrocytomas (n = 20), astrocytomas (grade II) (n = 19), anaplastic astrocytomas (n = 21) or glioblastomas (n = 111).
|
23934175 |
2013 |
|
Glioblastoma
|
|
0.100 |
GeneticVariation
|
BEFREE |
Here we show that SREBPs were up-regulated in U87 human glioblastoma cells transfected with an IDH1(R132H)-expression plasmid.
|
24077277 |
2013 |