A5077713350- Cancer Genomics and Diagnostics
- Genomics and Rare Diseases
- Acute Myeloid Leukemia Research
- Molecular Biology Techniques and Applications
- Hedgehog Signaling Pathway Studies
- Genetic factors in colorectal cancer
- Genomics and Phylogenetic Studies
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Lung Cancer Treatments and Mutations
- Estrogen and related hormone effects
- Gene expression and cancer classification
- Histone Deacetylase Inhibitors Research
- Lymphoma Diagnosis and Treatment
- Genomic variations and chromosomal abnormalities
- Epigenetics and DNA Methylation
- RNA modifications and cancer
- Chronic Lymphocytic Leukemia Research
- Single-cell and spatial transcriptomics
- Retinoids in leukemia and cellular processes
- BRCA gene mutations in cancer
- HER2/EGFR in Cancer Research
- Cancer-related Molecular Pathways
- Advanced Biosensing Techniques and Applications
- RNA Research and Splicing
- Melanoma and MAPK Pathways
Quest Diagnostics (United States)
2011-2025
Uttaranchal University
2023
Princess Margaret Cancer Centre
2021
The University of Texas MD Anderson Cancer Center
2006-2018
Scripps MD Anderson Cancer Center
2015
BACKGROUND The use of cytology specimens for next‐generation sequencing (NGS) is particularly challenging because the unconventional substrate smears and often limited sample volume. An analysis factors affecting NGS testing in cytologic samples may help to increase frequency successful testing. METHODS This study reviewed variables associated with all in‐house cases (n = 207) that were analyzed by Ion Torrent platform during a 10‐month interval. A statistical was performed measure effects...
Objectives: Clinical laboratories are rapidly implementing next-generation sequencing (NGS) tests for mutation analysis, but there few guidelines regarding sample quality successful results.
De novo acute myeloid leukemia (AML) with concurrent DNMT3A, FLT3 and NPM1 mutations (AML DNMT3A/FLT3/NPM1 ) has been suggested to represent a unique AML subset on the basis of integrative genomic analysis, but clinical features such patients have not characterized systematically.We assessed (n = 178) harboring in and/or NPM1, including an index group patients.Patients 35) were significantly younger (median, 56.0 vs. 62.0 years; p 0.025), mostly women (65.7% 46.9%; 0.045), presented higher...
Here we define a function of metastasis-associated protein 1 (MTA1), presumed corepressor estrogen receptor alpha (ERalpha), as transcriptional activator Breast Cancer Amplified Sequence 3 (BCAS3), gene amplified and overexpressed in breast cancers. We identified BCAS3 MTA1 chromatin target functional genomic screen. stimulation transcription required ERalpha involved ERE half-site BCAS3. Furthermore, discovered that is acetylated on lysine 626, this acetylation necessary for productive...
In a clinical diagnostic laboratory, we evaluated the applicability of Ion Proton sequencer for screening 409 cancer-related genes in solid tumours.DNA was extracted from formalin-fixed, paraffin-embedded (FFPE) tissue biopsy specimens 55 tumours (20 with matched normal tissue) and four cell lines screened mutations using system. The mutation profiles these samples were known based on prior testing Torrent Personal Genome Machine (46-gene hotspot panel), Sanger sequencing, or fluorescence...
Anaplastic thyroid carcinoma (ATC) is an aggressive disease that requires rapid diagnosis and multimodality treatment. Recent advances in targeted therapeutics have provided ATC patients with previously unavailable treatment options, which may improve clinical outcomes the coming years. Continued development of high-throughput next-generation sequencing provides clinicians unparalleled ability to characterize genomic background tumors order guide selection trial enrollment.Twenty-three...
Clinical next-generation sequencing (NGS) assay choice requires careful consideration of panel size, inclusion appropriate markers, ability to detect multiple genomic aberration types, compatibility with low quality and quantity nucleic acids, work flow feasibility. Herein, in a high-volume clinical molecular diagnostic laboratory, we have validated targeted high-multiplex PCR-based NGS (OncoMine Comprehensive Assay) coupled high-throughput using Ion Proton sequencer for routine screening...
Integrin-linked kinase (ILK) is a phosphorylated protein that regulates physiological processes overlap with those regulated by p21-activated 1 (PAK1). Here we report the possible role of ILK phosphorylation PAK1 in ILK-mediated signaling and intracellular translocation. We found phosphorylates at threonine-173 serine-246 vitro vivo. Depletion decreased levels endogenous Mutation sites on to alanine reduced cell motility proliferation. Biochemical fractionation, confocal microscopy,...
Pak1 (p21-activated kinase 1), a conserved, mammalian signaling kinase, is downstream effector of small GTPases Rac1 and Cdc42 growth factor signaling. Until now, major focus study has been on the cytosolic functions Pak1, where it an important modulator cytoskeletal reorganization, consequently playing role in cell survival, migration, invasion. In this report, we demonstrate nuclear localization upon stimulation by epidermal factor. Three signals (NLSs) were identified N-terminal domain...
Isolated isochromosome 17q, i(17q), accounts for less than 1% of myeloid neoplasms that are commonly classified as myelodysplastic/myeloproliferative neoplasms, acute leukemia (AML), myelodysplastic syndrome (MDS) or myeloproliferative (MPN). We have shown previously these cases distinctive clinicopathologic features, a poor prognosis and absence TP53 mutations. However, their molecular mutation profile has not been studied. Here, we explored the 32 neoplasm with isolated i(17q) included...
Background and Objectives: Accurate screening of clinically significant tumor mutations is critical for precision medicine in oncology. This requires genotyping platforms with high accuracy compatibility varying DNA yields from challenging sample types. Here, we have validated a new, improved, compact, self-contained pyrosequencing platform (Pyromark Q48 Autoprep; Q48) N-, K- H-RAS thyroid cancers. Methods: A set 73 cancer 16 non-thyroid samples (fine needle aspirates formalin-fixed...