Karen Mungall
A5103066113- Cancer Genomics and Diagnostics
- RNA modifications and cancer
- Genomics and Phylogenetic Studies
- Epigenetics and DNA Methylation
- RNA Research and Splicing
- Lymphoma Diagnosis and Treatment
- Genetics and Neurodevelopmental Disorders
- DNA Repair Mechanisms
- Lung Cancer Treatments and Mutations
- Yersinia bacterium, plague, ectoparasites research
- Cancer-related gene regulation
- Autism Spectrum Disorder Research
- RNA and protein synthesis mechanisms
- Genetic factors in colorectal cancer
- PARP inhibition in cancer therapy
- Cancer-related molecular mechanisms research
- Neuroblastoma Research and Treatments
- Viral-associated cancers and disorders
- Bacillus and Francisella bacterial research
- Cancer, Hypoxia, and Metabolism
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Acute Myeloid Leukemia Research
- Salmonella and Campylobacter epidemiology
- Colorectal Cancer Treatments and Studies
Canada's Michael Smith Genome Sciences Centre
2015-2025
BC Cancer Agency
2009-2022
Provincial Health Services Authority
2020
University of British Columbia
2013
Wellcome Sanger Institute
1999-2009
Wellcome Trust
2000-2001
Liver cancer has the second highest worldwide mortality rate and limited therapeutic options. We analyzed 363 hepatocellular carcinoma (HCC) cases by whole-exome sequencing DNA copy number analyses, we 196 HCC methylation, RNA, miRNA, proteomic expression also. mutation analysis identified significantly mutated genes, including LZTR1, EEF1A1, SF3B1, SMARCA4. Significant alterations or downregulation hypermethylation in genes likely to result metabolic reprogramming (ALB, APOB, CPS1) were...
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%...
The Gram-negative bacterium Yersinia pestis is the causative agent of systemic invasive infectious disease classically referred to as plague, and has been responsible for three human pandemics: Justinian plague (sixth eighth centuries), Black Death (fourteenth nineteenth centuries) modern (nineteenth century present day). recent identification strains resistant multiple drugs potential use Y. an biological warfare mean that still poses a threat health. Here we report complete genome sequence...
Highlights•SCCs show chromosome or methylation alterations affecting multiple related genes•These regulate squamous stemness, differentiation, growth, survival, and inflammation•Copy-quiet SCCs have hypermethylated (FANCF, TET1) mutated (CASP8, MAPK-RAS) genes•Potential targets include ΔNp63, WEE1, IAPs, PI3K-mTOR/MAPK, immune responsesSummaryThis integrated, multiplatform PanCancer Atlas study co-mapped identified distinguishing molecular features of cell carcinomas (SCCs) from five sites...
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×...
The gram-negative enteric bacterium Proteus mirabilis is a frequent cause of urinary tract infections in individuals with long-term indwelling catheters or complicated tracts (e.g., due to spinal cord injury anatomic abnormality). P. bacteriuria may lead acute pyelonephritis, fever, and bacteremia. Most notoriously, this pathogen uses urease catalyze the formation kidney bladder stones encrust obstruct catheters. Here we report complete genome sequence HI4320, representative strain cultured...
The human enteropathogen, Yersinia enterocolitica, is a significant link in the range of pathologies extending from mild gastroenteritis to bubonic plague. Comparison at genomic level key step our understanding genetic basis for this pathogenicity spectrum. Here we report genome Y. enterocolitica strain 8081 (serotype 0:8; biotype 1B) and extensive microarray data relating diversity species. Our analysis reveals that patchwork horizontally acquired loci, including plasticity zone 199 kb...
Of the > 2000 serovars of Salmonella enterica subspecies I, most cause self-limiting gastrointestinal disease in a wide range mammalian hosts. However, S. Typhi and Paratyphi A are restricted to human host similar systemic diseases typhoid paratyphoid fever. Genome sequence similarity between has been attributed convergent evolution via relatively recent recombination quarter their genomes. The accumulation pseudogenes is key feature these other host-adapted pathogens, overlapping pseudogene...
// Alireza Hadj Khodabakhshi 1 ,Ryan D. Morin , Anthony P. Fejes Andrew J. Mungall Karen L. Madison Bolger-Munro Nathalie A. Johnson 2 Joseph M. Connors Randy Gascoyne 2,3 Marco Marra 1,4 Inanc Birol Steven Jones 1,4,5 Michael Smith Genome Sciences Centre, Vancouver, British Columbia, Canada Centre for Lymphoid Cancer, BC Cancer Agency, 3 Department of Pathology, University 4 Medical Genetics, 5 Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, Correspondence: Jones,...
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...
As more clinically-relevant genomic features of myeloid malignancies are revealed, it has become clear that targeted clinical genetic testing is inadequate for risk stratification. Here, we develop and validate a transcriptome-based assay stratification acute leukemia (AML). Comparison ribonucleic acid sequencing (RNA-Seq) to whole genome exome reveals standalone RNA-Seq offers the greatest diagnostic return, enabling identification expressed gene fusions, single nucleotide short...
Abstract Sonic hedgehog medulloblastoma encompasses a clinically and molecularly diverse group of cancers the developing central nervous system. Here, we use unbiased sequencing transcriptome across large cohort 250 tumors to reveal differences among molecular subtypes disease, demonstrate previously unappreciated importance non-coding RNA transcripts. We identify alterations within cAMP dependent pathway ( GNAS , PRKAR1A ) which converge on GLI2 activity show that 18% have genetic event...
Abstract Burkitt lymphoma (BL) accounts for most pediatric non-Hodgkin lymphomas, being less common but significantly more lethal when diagnosed in adults. Much of the knowledge genetics BL thus far has originated from study (pBL), leaving its relationship to adult (aBL) and other lymphomas not fully explored. We sought thoroughly identify somatic changes that underlie lymphomagenesis aBL any molecular features associate with clinical disparities within between pBL aBL. Through comprehensive...