A5055312193- Cancer Genomics and Diagnostics
- Renal cell carcinoma treatment
- Renal and related cancers
- Cutaneous Melanoma Detection and Management
- Genetic factors in colorectal cancer
- Molecular Biology Techniques and Applications
- Cancer Diagnosis and Treatment
- Colorectal Cancer Treatments and Studies
- Melanoma and MAPK Pathways
- BRCA gene mutations in cancer
- Tumors and Oncological Cases
- Epigenetics and DNA Methylation
- Gene expression and cancer classification
- CAR-T cell therapy research
- Metastasis and carcinoma case studies
- Genomics and Rare Diseases
- Oral and Maxillofacial Pathology
- Bladder and Urothelial Cancer Treatments
- RNA modifications and cancer
- Colorectal Cancer Screening and Detection
- Genomic variations and chromosomal abnormalities
- Ocular Oncology and Treatments
- Cancer, Hypoxia, and Metabolism
- Nonmelanoma Skin Cancer Studies
- Cancer-related molecular mechanisms research
University of Nebraska Medical Center
2009-2017
University of Colorado Denver
2013-2017
Roswell Park Comprehensive Cancer Center
2017
Los Angeles Medical Center
2017
University of Florida
2017
UCLA Medical Center
2017
Baylor College of Medicine
2005-2016
Texas Children's Hospital
2012-2016
Invitae (United States)
2014-2016
Children's Cancer Center
2014-2016
Prostate cancer is characterized by heterogeneity in the clinical course that often does not correlate with morphologic features of tumor. Metastasis reflects most adverse outcome prostate cancer, and to date there are no reliable or serum biomarkers can reliably predict which patients at higher risk developing metastatic disease. Understanding differences biology organ confined primary tumors essential for new prognostic markers therapeutic targets.Using Affymetrix oligonucleotide arrays,...
Whole-exome sequencing (WES) has the potential to reveal tumor and germline mutations of clinical relevance, but diagnostic yield for pediatric patients with solid tumors is unknown.To characterize combined WES children tumors.Unselected newly diagnosed previously untreated central nervous system (CNS) non-CNS were prospectively enrolled in BASIC3 study at a large academic children's hospital during 23-month period from August 2012 through June 2014. Blood samples underwent certified...
PTEN haploinsufficiency is common in hormone-sensitive prostate cancer, though the incidence of genomic deletion and its downstream effects have not been elucidated clinical samples hormone refractory cancer (HRPC). Progression to androgen independence pivotal mediated largely by receptor (AR). Since this process distinct from metastatic progression, we examined alterations gene locally advanced recurrent, non-metastatic human HRPC tissues. Retrospective analyses status were correlated with...
Malignancies found in unexpected locations or with poorly differentiated morphologies can pose a significant challenge for tissue of origin determination. Current histologic and imaging techniques fail to yield definitive identification the number cases. The aim this study was validate predefined 1,550-gene expression profile purpose.Four institutions processed 547 frozen specimens representing 15 tissues using oligonucleotide microarrays. Half were metastatic tumors, remainder being...
Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of microsatellite instability (MSI), occur approximately 15% all colorectal carcinomas (CRCs). This molecular subset CRC characterizes patients with better stage-specific prognoses who experience no benefit from 5-fluorouracil chemotherapy. Most MMR-deficient (dMMR) CRCs are sporadic, but to 20% due inherited predisposition (Lynch syndrome). High penetrance germline MMR gene mutation carriers emphasizes the...
Loss of chromosome 14 has been associated with poor outcomes in clear-cell renal cell carcinoma. Expression HIFα isoforms linked to distinct molecular phenotypes We hypothesized that loss could lead a decrease HIF1α levels, as its gene (HIF1A) resides this chromosome. analyzed 112 archival carcinoma tumor specimens 250K SNP microarrays. also evaluated expression by qPCR and immunohistochemistry subset 30 patients. 14q was high stage (III–IV, P=0.001), risk for recurrence (P=0.002, RR 2.78...
Objectives.— To develop evidence-based guideline recommendations through a systematic review of the literature to establish standard molecular biomarker testing colorectal cancer (CRC) tissues guide epidermal growth factor receptor (EGFR) therapies and conventional chemotherapy regimens. Methods.— The American Society for Clinical Pathology, College Pathologists, Association Molecular Oncology convened an expert panel patients with CRC. A comprehensive search that included more than 4,000...
Inhalation of asbestos fibers causes pulmonary inflammation and eventual fibrosis (asbestosis). Although the underlying molecular events are poorly understood, protease/antiprotease oxidant/antioxidant imbalances believed to contribute disease. Implicated in other forms fibrosis, matrix metalloproteinases (MMPs) have not been examined asbestosis. We therefore hypothesized that MMPs play a pathogenic role asbestosis development. Wild-type C57BL/6 mice were intratracheally instilled with 0.1...
Abstract Context.—KRAS mutations can be detected in approximately 30% to 40% of all patients with colorectal cancer. Several recent studies have shown that KRAS codons 12 or 13 metastatic tumors do not benefit from anti–epidermal growth factor receptor therapy cetuximab panitumumab. Objective.—To review the literature on role mutation testing for management cancer and discuss strategies. Data Sources.—This is based published, peer-reviewed literature; available information medical...
Metastatic tumors with an uncertain primary site can be a difficult clinical problem. In tens of thousands patients every year, no confident diagnosis is ever issued, making standard-of-care treatment impossible. Gene expression profiling (GEP) tests currently available to analyze these difficult-to-diagnose have never been directly compared the diagnostic standard care, immunochemistry (IHC). This prospectively conducted, blinded, multicenter study compares accuracy GEP IHC in identifying...
Clear cell-papillary renal cell carcinoma (CC-Pap RCC) is a recently described tumor initially reported in the setting of end-stage disease (ESRD). It has unique morphologic and immunohistochemical features that differentiate it from more common clear RCC papillary RCC. Recently, these tumors have also been sporadic setting. We studied 64 cases CC-Pap not associated with ESRD (57 RCCs 7 angiomyoadenomatous [RAT] including 5 diagnosed as such). The all profile 59 were along clinical molecular...
Translocation renal cell carcinoma (tRCC) is a rare subtype of kidney cancer involving the TFEB/TFE3 genes. We aimed to investigate genomic and epigenetic features this entity.
Mutations in SETD2, a histone H3 lysine trimethyltransferase, have been identified clear cell renal carcinoma (ccRCC); however it is unclear if loss of SETD2 function alters the genomic distribution 3 36 trimethylation (H3K36me3) ccRCC. Furthermore, published epigenomic profiles are not specific to H3K36me3 or metastatic tumors. To determine progressive and dysregulation occurs tumors, H3K36me3, copy number (CN) mRNA abundance was assessed two independent cohorts: ccRCC (n=71) Cancer Genome...
Purpose: Sarcomatoid renal cell carcinoma (SRCC) ranks among the most aggressive clinicopathologic phenotypes of RCC. However, paucity high-quality, genome-wide molecular examinations SRCC has hindered our understanding this entity.Experimental Design: We interrogated mutational, copy number, and transcriptional characteristics compared these data with those nonsarcomatoid RCC (RCC). evaluated whole-exome sequencing, single-nucleotide polymorphism, RNA sequencing from patients (n = 65) 598)...
Can gene expression profiling be used to identify patients with T1-T2 melanoma at low risk for sentinel lymph node (SLN) positivity?Bioinformatics modeling determined a population in which 31-gene profile test predicted <5% SLN positivity. Multicenter, prospectively-tested (n = 1421) and retrospective 690) cohorts were validation outcomes, respectively.Patients 55-64 years ≥65 class 1A (low-risk) had positivity rates of 4.9% 1.6%. Class 2B (high-risk) 30.8% 11.9%. Melanoma-specific survival...
Objective: DecisionDx-Melanoma* is a 31-gene expression profile test that predicts the risk of metastasis in patients with primary cutaneous melanoma (CM). This study was designed to ascertain clinical management changes determined by outcome, which classifies CM being at low (Class 1) or high 2) for recurrence.Research design and methods: Medical charts were reviewed from 156 six institutions (three dermatology three surgical oncology practices) who consecutively tested between May 2013...
National guidelines recommend sentinel lymph node biopsy (SLNB) be offered to patients with > 10% likelihood of (SLN) positivity. On the other hand, do not SLNB for T1a tumors without high-risk features who have < 5% a positive SLN. However, decision perform is less certain higher-risk T1 melanomas in which expected 5%-10% time. We hypothesized that integrating clinicopathologic 31-gene expression profile (31-GEP) score using advanced artificial intelligence techniques would provide more...