A5068286435- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- Wnt/β-catenin signaling in development and cancer
- Pancreatic and Hepatic Oncology Research
- Cancer-related gene regulation
- BRCA gene mutations in cancer
- Glioma Diagnosis and Treatment
- Neuroendocrine Tumor Research Advances
- Cancer Immunotherapy and Biomarkers
- Lung Cancer Treatments and Mutations
- Ferroptosis and cancer prognosis
- Renal cell carcinoma treatment
- Lung Cancer Research Studies
- Chromatin Remodeling and Cancer
- Radiomics and Machine Learning in Medical Imaging
- Genomics and Rare Diseases
- Renal and related cancers
- Epigenetics and DNA Methylation
- Brain Metastases and Treatment
- Cancer Research and Treatments
- Genomic variations and chromosomal abnormalities
- Ethics in Clinical Research
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Adrenal and Paraganglionic Tumors
- DNA Repair Mechanisms
Hoag Memorial Hospital Presbyterian
2020-2025
Duke University
2023
Yasuj University of Medical Sciences
2023
University of Cincinnati
2023
Penn State Milton S. Hershey Medical Center
2023
Caris Life Sciences (United States)
2023
Levine Cancer Institute
2023
West Virginia State University
2023
West Virginia University
2023
Neuroscience Institute
2023
Ascertaining a diagnosis through exome sequencing can provide potential benefits to patients, insurance companies, and the healthcare system. Yet, as diagnostic is increasingly employed, vast amounts of human genetic data are produced that need careful curation. We discuss methods for accurately assessing clinical validity gene-disease relationships interpret new research findings in context increase rate. The specifics scoring system adapted use laboratory described. In turn, inform...
Molecular profiling of clear cell renal carcinoma (ccRCC) tumors patients in a clinical trial has identified distinct transcriptomic signatures with predictive value, yet data non-clear variants (nccRCC) are lacking. We examined the transcriptional profiles RCC representing key molecular pathways, from multi-institutional, real-world patient cohort, including ccRCC and centrally reviewed nccRCC samples. had increased angiogenesis signature scores compared heterogeneous group tumors, while...
Urachal cancer, a rare malignancy, generally presents in the clinical setting with advanced stages of disease. Systemic treatment chemotherapy is utilized this setting. However, there remains paucity data on effectiveness immune checkpoint inhibitors or targeted therapies for urachal cancer. We analyzed genomic profile cancer order to identify potentially targetable mutations and evaluate tumor microenvironment. 42 samples were retrospectively analyzed. Our results showed that TP53, GNAS...
Abstract PURPOSE Oncogenic mutations in KRAS have been identified > 85% of pancreatic ductal adenocarcinoma (PDAC) cases. G12D, G12V, and G12R are the most frequent variants. Using large clinical genomic databases, this study characterizes prognostic molecular differences between variants, focusing on G12D G12R. METHODS PDAC samples were tested using DNA RNA sequencing. MAPK activation score tumor microenvironment analyzed from expression data. Real-world overall survival (OS)...
<div>AbstractPurpose:<p>Oncogenic mutations in <i>KRAS</i> have been identified >85% of pancreatic ductal adenocarcinoma (PDAC) cases, with G12D, G12V, and G12R being the most frequent variants. Using large clinical genomic databases, this study characterizes prognostic molecular differences between variants, focusing on <i>KRAS</i><sup>G12D</sup> <i>KRAS</i><sup>G12R</sup>.</p>Experimental Design:<p>PDAC...
Abstract Gliomas are the most prevalent neurological cancer in USA and care modalities not able to effectively combat these aggressive malignancies. Identifying new, more effective treatments require a deep understanding of complex genetic variations relevant pathway associations behind cancers. Drawing connections between gene mutations with responsive target can help drive therapy selections enhance patient survival. We have performed extensive molecular profiling Capicua ( CIC) , tumor...
Recurrent/metastatic (R/M) head and neck squamous cell carcinoma (HNSCC) patients overall have a poor prognosis. However, human papillomavirus (HPV)-associated R/M oropharyngeal (OPSCC) is associated with better prognosis compared to HPV-negative disease. Immune checkpoint blockade (ICB) the standard of care for HNSCC. whether HPV its surrogate marker, p16, portend an improved response ICB remains controversial. We queried Caris Life Sciences CODEai database p16+ p16- HNSCC using p16 as HPV....
Gene fusions involving receptor tyrosine kinases (RTKs) define an important class of genomic alterations with many successful targeted therapies now approved for ALK, ROS1, RET and NTRK gene fusions. Fusions the ERBB family RTKs have been sporadically reported, but their frequency has not yet comprehensively analyzed functional characterization is lacking on types We tumor samples submitted to Caris Life Sciences (n=64,354), as well TCGA (n=10,967), MSK IMPACT (n=10,945) AACR GENIE...
4020 Background: KRAS is an oncogenic driver in pancreatic ductal adenocarcinoma (PDAC) with mutations identified > 90% of cases. G12D the most frequent variant, followed by G12V and G12R. We recently reported on prognostic impact distinct mutations. The current study utilized a large clinical genomic database, to further explore characterize molecular differences between variants, focusing Methods: PDAC samples were tested using whole transcriptome sequencing (WTS; Illumina NovaSeq)...
Abstract Melanoma brain metastases (MBM) are clinically challenging to treat and exhibit variable responses immune checkpoint therapies. Prior research suggests that MBM poor tumor enriched in oxidative phosphorylation. Here, we report results from a multi-omic analysis of large, real-world melanoma cohort. exhibited lower interferon-gamma (IFNγ) scores T cell-inflamed compared primary cutaneous (PCM) or extracranial (ECM), which was independent mutational burden. Among MBM, there were fewer...
Despite recent advances in elucidating molecular pathways underlying adrenocortical carcinoma (ACC), this orphan malignancy is associated with poor survival. Identification of targetable genomic alterations critical to improve outcomes. The objective study was characterize the profile a large cohort patient ACC samples identify actionable alterations. Three hundred sixty-four individual tumors were analyzed. median age 52 years and 60.9% (n = 222) female. had common epigenetic 38% carrying...
About 75% of medullary thyroid cancers (MTCs) are sporadic with 45% to 70% being driven by a RET mutation. Selpercatinib is an approved treatment for RET-mutated (mut ) MTC; however, treatments needed wild-type MTC (wt ). Genomic alterations and transcriptomic signatures wt may reveal new therapeutic insights.
BACKGROUNDMetastases are the hallmark of lethal cancer, though underlying mechanisms that drive metastatic spread to specific organs remain poorly understood. Renal cell carcinoma (RCC) is known have distinct sites metastases, with lung, bone, liver, and lymph nodes being more common than brain, gastrointestinal tract, endocrine glands. Previous studies shown varying clinical behavior prognosis associated site spread; however, little about molecular underpinnings contribute differential...
735 Background: We have studied the role of KRAS mutations in relation to prognosis patients with advanced pancreatic ductal adenocarcinoma (PDAC). is a well-described oncogenic driver PDAC, identified over 90% cases, typically involving codon 12. The three predominant missense variants include G12D, G12V and G12R. PDAC has highest rate G12R compared other malignancies, comprising 15-20% KRAS-mutated tumors. This study presents new finding progression utilizing large clinical genomic...