- Cancer Genomics and Diagnostics
- Epigenetics and DNA Methylation
- Renal cell carcinoma treatment
- Cancer Immunotherapy and Biomarkers
- Bladder and Urothelial Cancer Treatments
- Renal and related cancers
- Urinary and Genital Oncology Studies
- RNA modifications and cancer
- Genetic factors in colorectal cancer
- Medical History and Innovations
- Cancer-related gene regulation
- Thyroid Cancer Diagnosis and Treatment
- Lymphoma Diagnosis and Treatment
- Molecular Biology Techniques and Applications
- Cancer-related Molecular Pathways
- Cancer-related molecular mechanisms research
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
Cornell University
2018-2025
Weill Cornell Medicine
2019-2025
New York Hospital Queens
2020
NewYork–Presbyterian Hospital
2020
Masaryk University
2020
Fordham University
2020
Washtenaw Community College
2020
University of Michigan
2019-2020
Lander Institute
2020
Abstract The molecular characteristics of metastatic upper tract urothelial carcinoma (UTUC) are not well understood, and there is a lack knowledge regarding the genomic transcriptomic differences between primary UTUC. To address these gaps, we integrate whole-exome sequencing, RNA Imaging Mass Cytometry using lanthanide metal-conjugated antibodies 44 tumor samples from 28 patients with high-grade We perform spatially-resolved single-cell analysis cancer, immune, stromal cells to understand...
To understand the clinical context of tumor mutational burden (TMB) when comparing a pan-cancer threshold and cancer-specific threshold.Using whole exome sequencing (WES) data from primary tumors in The Cancer Genome Atlas (TCGA) (n=3,534) advanced/metastatic Weill Cornell Medicine (WCM Advanced) (n=696), TMB status was determined using threshold. Survival curves, number samples classified as high, predicted neoantigens were used to evaluate differences between thresholds.The distribution...
<title>Abstract</title> With the rapid advances in cancer research, list of variants and genes that drive human diseases is constantly expanding. Moreover, FDA has approved more therapies incorporate a broader set genomic features than simple gene such as Tumor Mutation Burden (TMB), microsatellite instability status (MSI), fusion events families NTRK receptors. These currently require multiple testing methods (IHC/FISH/etc.). cost NGS dropping, it now possible to envision an assay capable...
Background Morphologic and genetic analysis of thyroid nodules may be performed from a single vial. Preanalytic variables that affect nucleic acid extracted vial are evaluated. Methods Thyroid fine‐needle aspiration (FNA) specimens collected in CytoLyt were A ThinPrep slide was prepared. Extracted acids analyzed using Oncomine Comprehensive Panel, version 2, after Ion AmpliSeq library preparation. pathologist cytotechnologist enumerated specimen cellularity. Results Fifty‐six samples 55 53...
Primary clear cell renal carcinoma (ccRCC) has been previously characterized, but the genomic landscape of metastatic ccRCC is largely unexplored. Here, we performed whole exome sequencing (WES) in 68 samples from 44 patients with ccRCC, including 52 a site. SETD2 , PBRM1 APC and VHL were most frequently mutated genes cohort. RBM10 FBXW7 also among 10 tissues. Recurrent somatic copy number variations (CNV) observed at identified regions 3p25, 9p21 14q25, 6p21 ( CDKN1A ) 13q14 RB1) . No...
Head and neck squamous cell carcinoma (HNSCC) is the sixth most prevalent cancer worldwide, with human papillomavirus (HPV)-related HNSCC rising to concerning levels. Extensive clinical, genetic epigenetic differences exist between HPV-associated HPV-negative HNSCC, which often linked tobacco use. However, 5-hydroxymethylation (5hmC), an oxidative derivative of DNA methylation its heterogeneity among subtypes, has not been studied. We characterized genome-wide 5hmC profiles in by HPV status...
With the rapid advances in cancer research, list of variants and genes that drive human diseases is constantly expanding. Moreover, FDA has approved more therapies incorporate a broader set genomic features than simple gene such as Tumor Mutation Burden (TMB), microsatellite instability status (MSI), fusion events families NTRK receptors. These currently require multiple testing methods (IHC/FISH/etc.). cost NGS dropping, it now possible to envision an assay able reliably detect these...
Abstract The molecular characteristics of metastatic upper tract urothelial carcinoma (UTUC) are unknown. genomic and transcriptomic differences between primary UTUC is not well described either. We combined whole-exome sequencing, RNA-sequencing, Imaging Mass Cytometry ™ (IMC ) 44 tumor samples from 28 patients with high-grade UTUC. IMC enables spatially resolved single-cell analyses to examine the evolution cancer cell, immune stromal cell markers using mass cytometry lanthanide...
675 Background: The most frequent genomic alterations in patients (pts) with ccRCC have been identified primary tumors. Here we investigated the landscape of a cohort enriched for metastatic tumors after treatment systemic therapy. Methods: We prospectively enrolled pts clinical study which Whole-Exome Sequencing (WES) normal and tumor tissue was performed. Clinical features, outcome survival were evaluated. Results: Forty-five median age 65 years (range 38–86) enrolled. According to Heng...
Abstract Infection with high-risk HPV, or human papillomavirus, has been shown to be a risk factor for head and neck squamous cell carcinoma (HNSCC) development in addition the classical factors of tobacco alcohol usage. Previous studies have identified epigenetic differences between these two classes HNSCC, including DNA methylation, histone modifications non-coding RNAs. 5-hydroxymethylation (5hmC) is an oxidative derivative 5-methylcytosine (5mC) depleted cancers many different origins....
Infection with high-risk HPV, or human papillomavirus, has been shown to be a risk factor for head and neck squamous cell carcinoma (HNSCC) development in addition the classical factors of tobacco alcohol usage. Previous studies have identified epigenetic differences between these two classes HNSCC, including DNA methylation, histone modifications non-coding RNAs. 5-hydroxymethylation (5hmC) is an oxidative derivative 5-methylcytosine (5mC) depleted cancers many different origins. However,...