A5081399540- Cancer Genomics and Diagnostics
- Lung Cancer Treatments and Mutations
- Genetic factors in colorectal cancer
- Colorectal Cancer Treatments and Studies
- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- DNA Repair Mechanisms
- Genomics and Phylogenetic Studies
- Lung Cancer Diagnosis and Treatment
- PARP inhibition in cancer therapy
- Lung Cancer Research Studies
- Molecular Biology Techniques and Applications
- Chromosomal and Genetic Variations
- Epigenetics and DNA Methylation
- Health Systems, Economic Evaluations, Quality of Life
- Genomic variations and chromosomal abnormalities
- Cholangiocarcinoma and Gallbladder Cancer Studies
- Gastric Cancer Management and Outcomes
- CRISPR and Genetic Engineering
- Radiomics and Machine Learning in Medical Imaging
- Cellular transport and secretion
- Melanoma and MAPK Pathways
- Retinal Development and Disorders
- Yeasts and Rust Fungi Studies
- Wheat and Barley Genetics and Pathology
University of British Columbia
2004-2025
BC Cancer Agency
2005-2023
Cancer Genetics (United States)
2012-2021
Vancouver Clinic
2019-2021
Canada's Michael Smith Genome Sciences Centre
2004-2020
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×...
Using the human bacterial artificial chromosome (BAC) fingerprint-based physical map, genome sequence assembly and BAC end sequences, we have generated a fingerprint-validated set of 32 855 clones spanning genome. The clone provides coverage for at least 98% fingerprint 99% current assembled has an effective resolving power 79 kb. We made publicly available, anticipating that it will generally facilitate FISH or array-CGH-based identification characterization chromosomal alterations relevant...
PURPOSE Targeted therapy and immunotherapy promise improved survival in patients with advanced melanoma, yet the effectiveness cost-effectiveness of multigene panel sequencing compared single-gene BRAF testing to guide therapeutic decisions is unknown. METHODS Our population-based quasi-experimental retrospective target trial emulation used comprehensive patient-level data for 364 British Columbia, Canada, adults an melanoma diagnosis receiving or between September 1, 2016, December 31,...
Background This study aimed to identify and resolve discordant variant interpretations across clinical molecular genetic laboratories through the Canadian Open Genetics Repository (COGR), an online collaborative effort for sharing interpretation. Methods Laboratories uploaded data Franklin Genoox platform. Reports were issued each laboratory, summarising variants where conflicting classifications with another laboratory noted. could then reassess discordances. Discordance was calculated...
Abstract Germline structural variants (SVs) are challenging to resolve by conventional genetic testing assays. Long-read sequencing has improved the global characterization of SVs, but its sensitivity at cancer susceptibility loci not been reported. Nanopore long-read genome was performed for nineteen individuals with pathogenic copy number alterations in BRCA1 , BRCA2 CHEK2 and PALB2 identified prior clinical testing. Fourteen variants, which spanned single exons whole genes included a...
Mutations in KRAS and NRAS are associated with a lack of response to cetuximab panitumumab, two biologics used for third-line therapy metastatic colorectal cancer (mCRC). In British Columbia, Canada, eligibility or panitumumab was first based on single-gene testing. OncoPanel, multi-gene next-generation sequencing panel both NRAS, introduced 2016. Our objective estimate the real-world cost-effectiveness OncoPanel versus testing inform mCRC.
Inherited genetic variation has important implications for cancer screening, early diagnosis, and disease prognosis. A role germline also been described in shaping the molecular landscape, immune response, microenvironment, treatment response of individual tumors. However, there is a lack consensus on handling analysis information that extends beyond known or suspected susceptibility large-scale genomics initiatives. As part Personalized OncoGenomics program British Columbia, we performed...
Background: Activating mutations of the epidermal growth factor receptor (EGFR) gene are known to drive a proportion non-small-cell lung cancers. Identification cancers harbouring such can lead effective treatment using one agents that targets and blocks EGFR-mediated signalling. Methods: All specimens received at BC Cancer Agency (Vancouver) for EGFR testing were prospectively identified catalogued, together with clinical information status, over 14-month period. Results: Specimens from 586...
EGFR T790M testing is the standard of care for activating mutation (EGFRm) non-small cell lung cancer (NSCLC) progressing on 1st/2nd generation TKIs to select patients osimertinib. Despite sensitive assays, detection circulating tumour deoxyribonucleic acid (ctDNA) variable and influenced by clinical factors. The number location sites progressive disease at time were reviewed explore effect ctDNA detection. prognostic value survival outcomes was assessed.Following extraction cell-free DNA...
(1) Background: Exon 20 insertion mutations (ex20ins) in
e18017 Background: Gefitinib was licensed in Canada for the first line treatment of advanced non-small cell lung carcinoma (NSCLC) patients with EGFR tyrosine kinase mutation. Methods: A Pan-Canadian mutation testing program established to enable routine who might be eligible gefitinib therapy. Five regional clinical diagnostic centres across were selected this pilot network. Initial efforts included standardization protocols, selection assay platforms and evaluation/confirmation individual...