Eric Y. Stutheit-Zhao
A5009267215- Cancer Genomics and Diagnostics
- Cancer Immunotherapy and Biomarkers
- Pancreatic and Hepatic Oncology Research
- Colorectal Cancer Treatments and Studies
- Cancer-related Molecular Pathways
- Ocular Oncology and Treatments
- Immunotherapy and Immune Responses
- HIV Research and Treatment
- Epigenetics and DNA Methylation
- Immunodeficiency and Autoimmune Disorders
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- DNA Repair Mechanisms
- Advanced biosensing and bioanalysis techniques
- BRCA gene mutations in cancer
- RNA modifications and cancer
- Lymphoma Diagnosis and Treatment
- PARP inhibition in cancer therapy
- Spine and Intervertebral Disc Pathology
- Head and Neck Cancer Studies
- Lung Cancer Treatments and Mutations
- Scoliosis diagnosis and treatment
- Chronic Lymphocytic Leukemia Research
- Single-cell and spatial transcriptomics
- Genomics and Rare Diseases
University of Toronto
2020-2025
Cornell University
2023-2025
Hospital for Special Surgery
2023-2025
California Northstate University
2025
Princess Margaret Cancer Centre
2022-2024
University Health Network
2022-2024
Hopp Children's Cancer Center Heidelberg
2023
Northwestern University
2023
Rochester Institute of Technology Kosovo
2023
Salesforce (United States)
2023
Follicular lymphoma (FL) and diffuse large B-cell (DLBCL) are the two most common non-Hodgkin lymphomas (NHLs). Here we sequenced tumour matched normal DNA from 13 DLBCL cases one FL case to identify genes with mutations in NHL. We analysed RNA-seq data these another 113 NHLs candidate mutations, then re-sequenced confirm 109 multiple somatic mutations. Genes roles histone modification were frequent targets of mutation. For example, 32% 89% had MLL2, which encodes a methyltransferase, 11.4%...
Purpose: Recent studies have identified mutation signatures of homologous recombination deficiency (HRD) in over 20% breast cancers, as well pancreatic, ovarian, and gastric cancers. There is an urgent need to understand the clinical implications HRD signatures. Whereas BRCA1/2 mutations confer sensitivity platinum-based chemotherapies, it not yet clear whether can independently predict platinum response.Experimental Design: In this observational study, we sequenced tumor whole genomes (100×...
Abstract Diffuse large B-cell lymphoma (DLBCL) is an aggressive cancer originating from mature B-cells. Prognosis strongly associated with molecular subgroup, although the driver mutations that distinguish two main subgroups remain poorly defined. Through integrative analysis of whole genomes, exomes, and transcriptomes, we have uncovered genes non-coding loci are commonly mutated in DLBCL. Our has identified novel cis -regulatory sites, implicates recurrent 3′ UTR NFKBIZ as a mechanism...
Given the success of targeted agents in specific populations it is expected that some degree molecular biomarker testing will become standard care for many, if not all, cancers. To facilitate this, cancer centers worldwide are experimenting with "panel" sequencing selected mutations. Recent advances genomic technology enable generation genome-scale data sets individual patients. Recognizing risk, inherent panel sequencing, failing to detect meaningful somatic alterations, we sought establish...
People with Li-Fraumeni syndrome (LFS) harbor a germline pathogenic variant in the TP53 tumor suppressor gene, face near 100% lifetime risk of cancer, and routinely undergo intensive surveillance protocols. Liquid biopsy has become an attractive tool for range clinical applications, including early cancer detection. Here, we provide proof-of-principle multimodal liquid assay that integrates targeted gene panel, shallow whole-genome, cell-free methylated DNA immunoprecipitation sequencing...
Abstract Early kinetics of circulating tumor DNA (ctDNA) in plasma predict response to pembrolizumab but typically requires sequencing matched tissue or fixed gene panels. We analyzed genome-wide methylation and fragment-length profiles using cell-free methylated immunoprecipitation (cfMeDIP-seq) 204 samples from 87 patients before during treatment with a pan-cancer phase II investigator-initiated trial (INSPIRE). trained signature independent array data The Cancer Genome Atlas quantify...
Glioblastoma multiforme (GBM) is the most deadly brain tumor, and currently lacks effective treatment options. Brain tumor-initiating cells (BTICs) orthotopic xenografts are widely used in investigating GBM biology new therapies for this aggressive disease. However, genomic characteristics molecular resemblance of these models to tumors remain undetermined. We massively parallel sequencing technology decode genomes transcriptomes BTICs their matched order delineate potential impacts distinct...
Recent advances in single-cell technologies are paving the way to a comprehensive understanding of cellular complexity brain. Protocols for transcriptomics combine variety sophisticated methods purpose isolating heavily interconnected and heterogeneous neuronal cell types relatively intact healthy state. The emphasis transcriptome studies has thus far been on comparing library generation sequencing techniques that enable measurement minute amounts starting material from single cell. However,...
Pancreatic neuroendocrine tumors (PNETs) are a genomically and clinically heterogeneous group of pancreatic neoplasms often diagnosed with distant metastases. Recurrent somatic mutations, chromosomal aberrations, gene expression signatures in PNETs have been described, but the clinical significance these molecular changes is still poorly understood, outcomes PNET patients remain highly variable. To help identify factors that contribute to progression metastasis, as part an ongoing trial at...
We report a case of early-onset pancreatic ductal adenocarcinoma in patient harboring biallelic MUTYH germline mutations, whose tumor featured somatic mutational signatures consistent with defective -mediated base excision repair and the associated driver KRAS transversion mutation p.Gly12Cys. Analysis an additional 730 advanced cancer cases ( N = 731) was undertaken to determine whether were also present tumors from heterozygote carriers or if instead only seen those loss function....
Background: Human papillomavirus (HPV) DNA is detectable in the peripheral blood plasma from patients with locally advanced and metastatic cervical cancer. Levels of HPV circulating tumor (ctDNA) pretreatment have weak associations prognosis, but significance detecting integration into host genome or fragmentation features within ctDNA has not been explored. We hypothesized that these molecular may serve as prognostic biomarkers reflect biology, independent total abundance. Methods: Plasma...
Abstract Introduction: The incidence of human papillomavirus-positive (HPV+) oropharyngeal cancer (OPC) has increased rapidly, and HPV early antigen serology been proposed as a scalable cost-effective detection test. seropositivity can precede clinical presentation OPC by several years, so additional surveillance procedures may be necessary to optimize detection. potential for circulating tumor DNA (ctDNA) confirm diagnosis in seropositive individuals is poorly understood. Here, we assess...
Inhibitors of the programmed cell death 1 (PD-1) signaling axis have recently demonstrated efficacy and are rapidly being incorporated into treatment non–small lung cancers (NSCLCs). Despite clear benefits to certain patients, association these responses with a predictive biomarker remains uncertain. Several different biomarkers been proposed, differing results conclusions. This study compares multiple methods testing for NSCLCs PD1-axis inhibitors. Tissue microarrays matched primary...
Pancreatic neuroendocrine neoplasms (PanNENs) represent a minority of pancreatic that exhibit variability in prognosis. Ongoing mutational analyses PanNENs have found recurrent abnormalities chromatin remodeling genes (e.g., DAXX and ATRX), mTOR pathway TSC2, PTEN PIK3CA, MEN1), some which relevance to patients with related familial syndromes. Most recently, grade 3 been divided into two groups based on differentiation, creating new group well-differentiated tumors (PanNETs) had limited...
Eccrine porocarcinomas (EPs) are rare malignant tumours of the intraepidermic sweat gland duct and most often arise from benign eccrine poromas. Some recurrent somatic genomic events have been identified in these malignancies, but very little is known about complexity their molecular pathophysiology. We describe whole genome transcriptome profiling a metastatic EP 66-year-old male patient with previous history localized porocarcinoma scalp. Whole was performed on EP. sequencing blood-derived...