A5064643261- Lymphoma Diagnosis and Treatment
- Chronic Lymphocytic Leukemia Research
- Acute Myeloid Leukemia Research
- Cancer Genomics and Diagnostics
- Monoclonal and Polyclonal Antibodies Research
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Electronic Health Records Systems
- RNA Research and Splicing
- Biomedical Text Mining and Ontologies
- Clinical Laboratory Practices and Quality Control
- CAR-T cell therapy research
- AI in cancer detection
- Lung Cancer Treatments and Mutations
- Viral-associated cancers and disorders
- Epigenetics and DNA Methylation
- Immune Cell Function and Interaction
- Cerebrovascular and Carotid Artery Diseases
- Immunodeficiency and Autoimmune Disorders
- Cardiovascular Health and Disease Prevention
- Genomics and Chromatin Dynamics
- Genetic factors in colorectal cancer
- Polyomavirus and related diseases
- Cardiovascular Disease and Adiposity
- Acute Lymphoblastic Leukemia research
Brigham and Women's Hospital
2013-2023
Harvard University
2007-2020
National Cancer Institute
2014-2019
Dana-Farber Cancer Institute
2010-2019
Medical Education Institute
2019
UCLA Medical Center
2018-2019
VA Greater Los Angeles Healthcare System
2019
Olive View-UCLA Medical Center
2017-2019
Ronald Reagan UCLA Medical Center
2019
National Institutes of Health
1998-2019
The incidence of hematologic cancers increases with age. These are associated recurrent somatic mutations in specific genes. We hypothesized that such would be detectable the blood some persons who not known to have disorders.
Obesity results from an imbalance between energy intake and expenditure. In rodents newborn humans, brown adipose tissue helps regulate expenditure by thermogenesis mediated the expression of uncoupling protein 1 (UCP1), but has been considered to have no physiologic relevance in adult humans.We analyzed 3640 consecutive (18)F-fluorodeoxyglucose ((18)F-FDG) positron-emission tomographic computed (PET-CT) scans performed for various diagnostic reasons 1972 patients presence substantial depots...
We present statistical methods for analyzing replicated cDNA microarray expression data and report the results of a controlled experiment. The study was conducted to investigate inherent variability in gene extent which replication an experiment produces more consistent reliable findings. introduce model describe probability that mRNA is contained target sample tissue, converted probe, ultimately detected on slide. also method analyze combined from all replicates. Of 288 genes considered...
- The analysis of somatic mutations across multiple genes in cancer specimens may be used to aid clinical decision making. analytical validation targeted next-generation sequencing panels is important assess accuracy and limitations.- To report the development OncoPanel, a custom assay for cancer.- OncoPanel was designed detection single-nucleotide variants, insertions deletions, copy number alterations, structural variants 282 with evidence as drivers biology. We implemented strategy using...
BACKGROUND. Comprehensive genomic profiling of a patient's cancer can be used to diagnose, monitor, and recommend treatment. Clinical implementation tumor in an enterprise-wide, unselected patient population has yet reported. METHODS. We deployed hybrid-capture massively parallel sequencing assay (OncoPanel) for all adult pediatric patients at our combined centers. Results were categorized by pathologists based on actionability. report the results first 3,727 tested. RESULTS. Our cohort...
Programmed cell death protein 1 (PD-1) inhibitors have efficacy in treating squamous carcinoma of the head and neck (SCCHN), but objective response rates are low. PD-1 ligand (PD-L1) expression alone is not considered a robust predictor additional biomarkers needed. This 3-year observational cohort followed 126 SCCHN patients treated with anti–PD-1/L1 therapy. Prior to treatment, 81 (64%) had targeted massively parallel tumor sequencing. Of these, 42 (52%) underwent fluorescence-activated...
Endometrial stromal tumors are divided into three types: benign nodules, endometrial sarcomas, and undifferentiated sarcomas. A variety of cytogenetic abnormalities involving chromosome 7 have been reported in including a recurrent t(7;17)(p15;q21). We identified two zinc finger genes, which we termed JAZF1 JJAZ1 , at the sites 7p15 17q21 breakpoints. Analyses tumor RNA indicate that / fusion is present all types tumors; however, appears to be rarer among sarcomas would considered high-grade...
The TEL ( translocation–Ets–leukemia or ETV6 ) locus, which encodes an Ets family transcription factor, is frequently rearranged in human leukemias of myeloid lymphoid origins. By gene targeting mice, we previously showed that −/− mice are embryonic lethal because a yolk sac angiogenic defect. also appears essential for the survival selected neural and mesenchymal populations within embryo proper. Here, have generated mouse chimeras with ES cells to examine possible requirement adult...
The mammalian Daxx gene has been identified in a diverse set of yeast interaction trap experiments. Although facilitating role for Fas-induced apoptosis suggested, Daxx's physiologic function remains unknown. To elucidate the vivo Daxx, we have generated Daxx-deficient mice. Surprisingly, rather than hyperproliferative disorder expected from loss pro-apoptotic gene, mutation results extensive and embryonic lethality. These findings argue against promoting cell death suggest that either...
Bloom’s syndrome is a human autosomal genetic disorder characterized at the cellular level by genome instability and increased sister chomatid exchanges (SCEs). Clinical features of disease include proportional dwarfism predisposition to develop wide variety malignancies. The BLM gene has been cloned recently encodes DNA helicase. Mouse embryos homozygous for targeted mutation in murine ( Blm ) are developmentally delayed die embryonic day 13.5. fact that interrupted homolog was confirmed...
Signaling through Notch receptors has been implicated in the control of cellular differentiation animals ranging from nematodes to humans. Starting a human expressed sequence tag-containing resembling that Serrate, gene for ligand Drosophila melanogaster Notch, we assembled full-length cDNA, now called Jagged2, overlapping cDNA clones. The encodes polypeptide having extensive homology Serrate (40.6% identity and 58.7% similarity) even greater several putative mammalian ligands have...
Patients with squamous cell carcinoma (SCC) of the cervix or vulva have limited therapeutic options, and potential for immunotherapy this population has not been evaluated. Recent trials suggest that tumors a genetic basis PD-1 (programmed death protein 1) ligand expression are highly sensitive to antibodies targeting PD-1.To determine status CD274 (encoding PD-L1 [programmed 1 1]) PDCD1LG2 PD-L2 2]) in SCCs correlate findings expression.We performed fluorescence situ hybridization (FISH)...
Abstract Müllerian adenosarcoma ( MA ) is a rare mixed mesenchymal tumour of the female genital tract, composed malignant stroma and benign‐appearing epithelium. Sarcomatous overgrowth SO only established histological variable associated with higher stage shorter survival. Specific molecular or immunohistochemistry IHC tools for diagnosis are lacking. Our goal was to study genomic mutations copy number variations CNVs in understand better its pathobiology, develop specific diagnostic...
Merkel cell carcinoma (MCC) is a highly aggressive neuroendocrine of the skin caused by either integration polyomavirus (MCPyV) and expression viral T antigens or ultraviolet-induced damage to tumor genome from excessive sunlight exposure. An increasing number deep sequencing studies MCC have identified significant differences between types point mutations, copy alterations, structural variants virus-positive virus-negative tumors. However, it has been challenging reliably distinguish virus...