A5033441050- Cancer Genomics and Diagnostics
- BRCA gene mutations in cancer
- Childhood Cancer Survivors' Quality of Life
- Ethics and Legal Issues in Pediatric Healthcare
- Family Support in Illness
- DNA Repair Mechanisms
- PARP inhibition in cancer therapy
- Gastrointestinal disorders and treatments
- Reproductive Health and Technologies
- Statistical Methods in Clinical Trials
- Prostate Cancer Treatment and Research
- Prenatal Screening and Diagnostics
- Pharmaceutical studies and practices
- Gastrointestinal Tumor Research and Treatment
- Cardiac, Anesthesia and Surgical Outcomes
- Cancer-related Molecular Pathways
- Pancreatic function and diabetes
- Diabetes Management and Research
- Genetic factors in colorectal cancer
- Epigenetics and DNA Methylation
- Neuroblastoma Research and Treatments
- Diabetes and associated disorders
- Neurofibromatosis and Schwannoma Cases
- Genomics and Rare Diseases
- Pharmacogenetics and Drug Metabolism
University of Toronto
2019-2025
Sunnybrook Health Science Centre
2021-2025
Health Sciences Centre
2023-2025
Hospital for Sick Children
2019-2024
Cancer Genetics (United States)
2024
SickKids Foundation
2019
GTx (United States)
2019
We conducted integrative somatic-germline analyses by deeply sequencing 864 cancer-associated genes, complete genomes and transcriptomes for 300 mostly previously treated children adolescents/young adults with cancer of poor prognosis or rare tumors enrolled in the SickKids Cancer Sequencing (KiCS) program. Clinically actionable variants were identified 56% patients. Improved diagnostic accuracy led to modified management a subset. Therapeutically targetable (54% patients) unanticipated...
Abstract Li-Fraumeni syndrome (LFS) is a hereditary cancer predisposition associated with germline TP53 pathogenic variants. Here, we perform whole-genome sequence (WGS) analysis of tumors from 22 patients We observe somatic mutations affecting Wnt, PI3K/AKT signaling, epigenetic modifiers and homologous recombination genes as well mutational signatures prior chemotherapy. identify near-ubiquitous early loss heterozygosity , gain the mutant allele. This occurs earlier in these compared to...
Background Lynch syndrome (LS) is an autosomal dominant cancer predisposition caused by a germline pathogenic variant, or epigenetic silencing, of mismatch repair (MMR) gene, leading to wide spectrum with gene-specific penetrance. Ascertainment, assessment and testing LS individuals complex. A Canadian national guideline needed ensure equitable access patient care across the country. Methods The Syndrome (CDN-LS) working group was formed in 2021, consisting 37 multidisciplinary experts...
The SickKids Cancer Sequencing (KiCS) Program, launched in 2016, evaluates the clinical utility of paired tumor/germline Next-Generation (NGS) pediatric oncology patients with hard-to-cure and rare cancers. In anticipation further widespread adoption NGS, we aimed to characterize experiences perspectives adolescents parents who have already undergone NGS evaluation, focusing on psychosocial impact personal utility.Parents cancer adolescent participated KiCS were invited participate...
Abstract Familial gastrointestinal stromal tumors (GIST) are rare. We present a kindred with multiple family members affected multifocal GIST who underwent whole genome sequencing of the germline and tumor. Affected individuals harbored variant found within exon 13 KIT gene (c.1965T>G; p.Asn655Lys, p.N655K) in MSR1 (c.877 C > T; p.Arg293*, pR293X). Multifocal GISTs proband her mother were treated preoperative imatinib, which resulted severe intolerance. The clinical features GIST,...
Pharmacogenomic (PGx) tests represent significant advances in precision medicine. Our aim was to explore perceptions following the return of PGx results, medication management, and disclosure providers. We surveyed clients who had testing conducted a chart review results. Respectively, 84% 94% participants found pre- post-test genetic counseling helpful. There difference disclosure, while 6% disclosed results pharmacist, 50% physician. Qualitative analysis identified three themes: 1)...
e17002 Background: Approximately 20-30% of prostate cancer (PC) patients have a mutation in the homologous recombination repair or mismatch genes, 50% which are somatic. These mutations prognostic and predictive implications. Somatic tissue testing (STT) was implemented at Sunnybrook Health Sciences Centre using Oncomine V3 panel, includes 161 but only four genes (BRCA1/2, ATM, PALB2) reported due to funding restrictions. We describe our centre’s experience utility reporting beyond these...
Abstract Genetic counseling services changed due to the COVID‐19 pandemic. Many genetic counselors (GCs) moved from in‐person telehealth services. Others were redeployed by choice or necessity, using their expertise provide care and education. For some, employment status budgetary constraints decreasing referrals. This study surveyed North American GCs assess relative use of Practice‐Based Competencies (PBCs) as a proxy for skills used during first wave pandemic, whether in current role new...
Abstract Background: The role of germline ALK and PHOX2B variants in genetic predisposition to neuroblastoma (NB) is well established; however, alterations genes associated with other syndromes, including RASopathies, Fanconi anemia, Li-Fraumeni, have also been detected. Emerging data suggest potential roles for DNA damage repair (DDR) pathway NB predisposition. use next-generation sequencing (NGS) technologies facilitates the unbiased detection both known novel variants. Methods: Patients...