Kirsten M. Farncombe
A5085688755- Cancer Genomics and Diagnostics
- Cancer-related Molecular Pathways
- HIV Research and Treatment
- Immunodeficiency and Autoimmune Disorders
- Genomics and Rare Diseases
- Epigenetics and DNA Methylation
- Genomic variations and chromosomal abnormalities
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Biomedical Text Mining and Ontologies
- Acute Myeloid Leukemia Research
- Cancer, Hypoxia, and Metabolism
- Genomics and Phylogenetic Studies
- Chronic Lymphocytic Leukemia Research
- Study of Mite Species
- RNA modifications and cancer
- Tuberous Sclerosis Complex Research
- Acute Lymphoblastic Leukemia research
- Insect-Plant Interactions and Control
- Medical Imaging and Pathology Studies
- Sarcoma Diagnosis and Treatment
- Congenital heart defects research
- Congenital Heart Disease Studies
- Insect behavior and control techniques
- Nutrition, Genetics, and Disease
University Health Network
2020-2025
Toronto General Hospital
2020-2025
Ontario Institute for Cancer Research
2023-2024
Princess Margaret Cancer Centre
2023-2024
Health Net
2024
Toronto General Hospital Research Institute
2022-2023
Ted Rogers Centre for Heart Research
2020-2022
Hospital for Sick Children
2022
SickKids Foundation
2022
University of Toronto
2022
People with Li-Fraumeni syndrome (LFS) harbor a germline pathogenic variant in the TP53 tumor suppressor gene, face near 100% lifetime risk of cancer, and routinely undergo intensive surveillance protocols. Liquid biopsy has become an attractive tool for range clinical applications, including early cancer detection. Here, we provide proof-of-principle multimodal liquid assay that integrates targeted gene panel, shallow whole-genome, cell-free methylated DNA immunoprecipitation sequencing...
Abstract Background Integrating germline genetic testing (GGT) recommendations from tumor into hereditary cancer clinics and precision oncology trials presents challenges that require multidisciplinary expertise infrastructure. While there have been advancements in standardizing molecular boards, the implementation of profiling for germline-focused assessments has only recently gained momentum. However, this progress remains inconsistent across institutions, largely owing to a lack...
Abstract CIViC (Clinical Interpretation of Variants in Cancer; civicdb.org) is a crowd-sourced, public domain knowledgebase composed literature-derived evidence characterizing the clinical utility cancer variants. As sequencing becomes more prevalent management, need for variant interpretation has grown beyond capability any single institution. contains peer-reviewed, published literature curated and expertly-moderated into structured data units (Evidence Items) that can be accessed globally...
Abstract Next-generation sequencing (NGS) technologies have facilitated multi-gene panel (MGP) testing to detect germline DNA variants in hereditary cancer patients. This sensitive technique can uncover unexpected, non-germline incidental findings indicative of mosaicism, clonal hematopoiesis (CH), or hematologic malignancies. A retrospective chart review was conducted identify cases from NGS-MGP testing. Inclusion criteria included: 1) multiple pathogenic the same patient; 2) at a low...
Von Hippel-Lindau disease (VHL) is an autosomal dominant, inherited syndrome with variants in the VHL gene causing predisposition to multi-organ benign and malignant neoplasms. A germline variant identified 95-100% of individuals a clinical diagnosis VHL. Here, we present case individual where peripheral blood DNA analysis did not detect variant. Sequencing four tumor tissues (ccRCC, pheochromocytoma, lung via sputum, liver) revealed c.593 T > C (p.Leu198Pro) at varying allele fractions...
Von Hippel-Lindau (VHL) disease is a hereditary cancer syndrome where individuals are predisposed to tumor development in the brain, adrenal gland, kidney, and other organs. It caused by pathogenic variants VHL suppressor gene. Standardized information has been difficult collect due rarity diversity of patients. Over 4100 unique articles published until October 2019 were screened for germline genotype-phenotype data. Patient data translated into standardized descriptions using Human Genome...
Individuals with PTEN hamartoma tumour syndrome (PHTS), including Cowden (CS), are susceptible to multiple benign hamartomas and an increased risk of cancer, particularly breast, endometrial, thyroid. As a result, individuals undergo enhanced surveillance for early detection these cancers. However, less commonly occurring cancers, such as colorectal kidney, have insufficient guidelines detection. Currently, screening kidney cancer via renal ultrasound begins at 40 years age, because there...
We explored health professionals' views on the utility of circulating tumor DNA (ctDNA) testing in hereditary cancer syndrome (HCS) management.A qualitative interpretive description study was conducted, using semi-structured interviews with professionals across Canada. Thematic analysis employing constant comparison used for analysis. 2 investigators coded each transcript. Differences were reconciled through discussion and codebook modified as new codes themes emerged from data.Thirty-five...
Summary Despite advances in cancer therapeutics, early detection is often the best prognostic indicator for survival ( 1 ). People with Li-Fraumeni syndrome harbor a germline pathogenic variant tumor suppressor gene TP53 2 ) and face near 100% lifetime risk of developing wide spectrum of, multiple, cancers 3 mutation carriers routinely undergo intensive surveillance protocols which, although associated significantly improved survival, are burdensome to both patient health care system 4...
Prostate cancer is a significant cause of mortality. It has been well-established that certain germline pathogenic variants confer both an increased risk being diagnosed with prostate and dying cancer.1 There are exciting developments in the availability genetic testing opportunities for improved treatment patients.On August 19, 2020, Princess Margaret Cancer Centre Toronto, Ontario, hosted virtual retreat, bringing together international experts urology, medical oncology, radiation...
<p>Figure S9 showing fragment length metrics in cfMeDIP libraries</p>
<p>Figure S2 showing panel-based TP53 copy number alterations</p>
<p>Supplemental Table 1 – Sample Descriptions</p>
<p>Figure S2 showing panel-based TP53 copy number alterations</p>
<p>Figure S12 showing longitudinal integration scores</p>
<p>Supplemental Table 4 – LFS Methylation Signature</p>
<p>Figure S10 showing validation of methylation signatures</p>