Evan Fernandez

ORCID: 0000-0003-1370-2020
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About
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Research Areas
  • 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...

10.1038/s41467-024-46320-w article EN cc-by Nature Communications 2024-03-18

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...

10.1200/po.18.00400 article EN JCO Precision Oncology 2019-07-31

<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...

10.21203/rs.3.rs-6612849/v1 preprint EN Research Square (Research Square) 2025-06-04

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...

10.1002/cncy.22270 article EN Cancer Cytopathology 2020-04-08

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...

10.1002/1878-0261.13204 article EN cc-by Molecular Oncology 2022-03-01

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...

10.1186/s13148-020-00965-8 article EN cc-by Clinical Epigenetics 2020-11-17

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...

10.1101/2024.12.05.24318515 preprint EN medRxiv (Cold Spring Harbor Laboratory) 2024-12-08

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...

10.1101/2021.11.16.468622 preprint EN cc-by bioRxiv (Cold Spring Harbor Laboratory) 2021-11-19

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...

10.1200/jco.2019.37.7_suppl.675 article EN Journal of Clinical Oncology 2019-03-01

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....

10.1158/1538-7445.am2019-4325 article EN Cancer Research 2019-07-01

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,...

10.1158/1538-7445.sabcs18-4325 article EN Molecular and Cellular Biology / Genetics 2019-07-01
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