A5016818540- Ovarian cancer diagnosis and treatment
- PARP inhibition in cancer therapy
- Telomeres, Telomerase, and Senescence
- Chronic Myeloid Leukemia Treatments
- Cancer Genomics and Diagnostics
- Nuclear Structure and Function
- Acute Myeloid Leukemia Research
- Mobile Learning in Education
- FOXO transcription factor regulation
- Hormonal Regulation and Hypertension
- Cancer-related molecular mechanisms research
- E-Learning and Knowledge Management
- Reproductive Biology and Fertility
- Salmonella and Campylobacter epidemiology
- Endometriosis Research and Treatment
- Intestinal and Peritoneal Adhesions
- Uterine Myomas and Treatments
- Toxin Mechanisms and Immunotoxins
- Bacteriophages and microbial interactions
- RNA modifications and cancer
- Open Education and E-Learning
- Vibrio bacteria research studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
BC Cancer Agency
2017-2021
University of British Columbia
2017-2021
Canada's Michael Smith Genome Sciences Centre
2021
Provincial Health Services Authority
2017
Public Health Agency of Canada
2016
Government of Canada
2016
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...
The telomerase reverse transcriptase (TERT) gene is highly expressed in stem cells and silenced upon differentiation. Cancer can attain immortality by activating TERT to maintain telomere length activity, which a crucial step of tumorigenesis. Two somatic mutations the promoter (C228T; C250T) have been identified as gain-of-function that promote transcriptional activation multiple cancers, such melanoma glioblastoma. A recent study investigating ovarian carcinomas found C228T C250T 15.9%...
Substantial progress has been made in understanding ovarian cancer at the molecular and cellular level. Significant improvement 5-year survival achieved through cytoreductive surgery, combination platinum-based chemotherapy, more effective treatment of recurrent cancer, there are now than 280,000 survivors United States. Despite these advances, long-term late-stage disease improved little over last 4 decades. Poor outcomes relate, part, to late stage initial diagnosis, intrinsic drug...
Abstract Adult‐type granulosa cell tumors (aGCTs) account for 90% of malignant ovarian sex cord‐stromal and 2–5% all cancers. These are usually diagnosed at an early stage treated with surgery. However, one‐third patients relapse between 4 8 years after initial diagnosis, there currently no effective treatments other than surgery these relapsed patients. As the majority aGCTs (>95%) harbor a somatic mutation in FOXL2 (c.C402G; p.C134W), aim this study was to identify genetic mutations...
Abstract A recurrent mutation in FOXL2 (c.402C>G; p.C134W) is present over 95% of adult‐type granulosa cell tumours (AGCTs). In contrast, various loss‐of‐function mutations lead to the development blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES). BPES characterised by an eyelid malformation often accompanied with primary ovarian insufficiency. Two recent studies suggest that C402G a gain‐ or change‐of‐function altered DNA‐binding specificity. Another study proposes...
ABSTRACT We report the draft genome sequences of 25 Salmonella enterica strains representing 24 different serotypes, many which were not available in public repositories during our selection process. These genomes will provide useful reference for genetic variation between serotypes and aid development molecular typing tools.
Student creation of educational materials has the capacity both to enhance learning and decrease costs. Three successive honors-style classes undergraduate students in a cancer genetics class worked with new software system, CuboCube, create an e-textbook. CuboCube is open-source system designed facilitate e-textbook development, ultimate goal improving social experience for students. Equipped crowdsourcing capabilities, provides intuitive tools nontechnical technical authors alike content...
Abstract Granulosa cell tumours (GCTs) of the ovary account for 90% sex cord-stromal and have a high recurrence rate up to 50%. A missense mutation in FOXL2 gene (c.402C>G; pC134W) is defining feature GCT used as robust marker diagnosis. However, other than pathogenesis driving pathways remain unknown. Determining secondary genetic events GCTs essential understanding improving prognosis. In pilot study, we completed an analysis whole genome sequencing ten matched normal cases generate...
Abstract The telomerase reverse transcriptase (TERT) gene is highly expressed in stem cells and silenced upon differentiation. Cancer can attain immortality by activating TERT to maintain telomere length activity, a crucial step of tumorigenesis. Two somatic mutations the promoter (C228T; C250T) have been identified multiple cancers, such as melanoma glioblastoma, gain-of-function that promote transcriptional activation TERT. A recent study investigating ovarian carcinomas found 15% clear...
Abstract BACKGROUND: Adult granulosa cell tumors (AGCT) represent 3-5% of all ovarian cancers. These are characterized by their slow growth and usually occur in postmenopausal women with a median age diagnosis 50 to 54 years. The majority patients diagnosed as stage I treated surgery remove ovaries uterus. Although these treatments effective at first, one third relapse leading mortality 50-80% relapsed patients. best course treatment for recurrent advanced disease is optimal debulking...