A5069204071- Cancer Genomics and Diagnostics
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Pancreatic and Hepatic Oncology Research
- Genomics and Rare Diseases
- Breast Cancer Treatment Studies
- Molecular Biology Techniques and Applications
- Cancer Cells and Metastasis
- Intestinal Malrotation and Obstruction Disorders
- Genetic Associations and Epidemiology
- Antifungal resistance and susceptibility
- Lymphoma Diagnosis and Treatment
- Retinal Diseases and Treatments
- Lung Cancer Treatments and Mutations
- Bacterial Infections and Vaccines
- Pediatric Hepatobiliary Diseases and Treatments
- Digestive system and related health
- Biomedical Text Mining and Ontologies
- ATP Synthase and ATPases Research
- Lung Cancer Research Studies
- Nutrition, Genetics, and Disease
- Chromatin Remodeling and Cancer
- Retinal Development and Disorders
- Congenital Diaphragmatic Hernia Studies
- Genomics and Phylogenetic Studies
Jewish General Hospital
2016-2024
McGill University
2013-2023
McGill University and Génome Québec Innovation Centre
2014-2021
Washington Center
2018
University of Washington
2018
Centre Hospitalier de l’Université de Montréal
2016-2018
Hôpital du Sacré-Cœur de Montréal
2016-2018
John H. Stroger, Jr. Hospital of Cook County
2016-2018
McGill University Health Centre
2016
Harvard University
2016
We demonstrate autosomal-recessive Caspase Recruitment Domain-containing protein 9 (CARD9) deficiency in a patient with relapsing C. albicans meningoencephalitis. identified novel, hypomorphic mutation intact Th17 responses, but impaired GM-CSF responses. report complete clinical remission adjunctive therapy, suggesting that CARD9/GM-CSF axis contributes to susceptibility candidiasis.
<h3>Background</h3> Congenital multiple intestinal atresia (MIA) is a severe, fatal neonatal disorder, involving the occurrence of obstructions in small and large intestines ultimately leading to organ failure. Surgical interventions are palliative but do not provide long-term survival. Severe immunodeficiency may be associated with phenotype. A genetic basis for MIA likely. We had previously ascertained cohort patients French-Canadian origin, most whom were deceased as infants or utero. The...
Abstract Response to neoadjuvant chemotherapy (NAC) in triple negative breast cancer (TNBC) is highly prognostic and determines whether adjuvant needed if residual tumor found at surgery. To evaluate the predictive values of circulating DNA (ctDNA) this setting, we analyzed serial bloods from 26 TNBC patients collected prior, during, after NAC. Individual digital droplet PCR assays were developed for 121 variants (average 5/patient) identified sequencing, enabling ctDNA detection 96%...
Abstract Background: Circulating free DNA (cfDNA) is an exciting novel method to diagnose, monitor, and predict resistance response cancer therapies, with the potential radically alter management of patients. To fulfill its potential, greater knowledge about preanalytical variables required optimize standardize collection process, maximize yield utility small quantities cfDNA extracted. Methods: this end, we have compared extraction efficiency three different protocols, including a protocol...
A significant challenge facing clinical translation of exome sequencing is meaningful and efficient variant interpretation. Each contains ∼500 rare coding variants; laboratories must systematically efficiently identify which variant(s) contribute to the patient's phenotype. In silico filtering an approach that reduces analysis time while decreasing chances incidental findings. We retrospectively assessed 55 solved exomes using available datasets as in filters: Online Mendelian Inheritance...
Pancreatic adenocarcinoma (PC) is a lethal malignancy that familial or associated with genetic syndromes in 10% of cases. Gene-based surveillance strategies for at-risk individuals may improve clinical outcomes. However, PC (FPC) plagued by heterogeneity and the basis majority FPC remains elusive, hampering development gene-based programs. The study was powered to identify genes cumulative pathogenic variant prevalence at least 3%, which includes most prevalent susceptibility gene, BRCA2....
Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health disease. Here, we show that BCL6 co-repressor (BCOR), a Polycomb repressive complex 1 factor mutated various cancers, involved degenerative diseases. Using proteomics assays, report BCOR interacts with CRX OTX2 reduces their ability to activate promoters photoreceptor-specific genes. CUT&RUN...
Mutations in the NNT gene (nicotinamide nucleotide transhydrogenase), which is involved NADPH generation mitochondria, have recently been described familial glucocorticoid deficiency. We report two patients, one with isolated deficiency and other a combined mineralocorticoid Through whole exome sequencing, both cases were found to carry different mutations, confirming previous results for these patients. Each patient also carries multiple heterozygous protein-altering mutations genes steroid...
594 Background: TNBC, the most aggressive form of breast cancer, is treated primarily with chemotherapy, even before surgery (neoadjuvant chemotherapy or NAC). The prognosis and need for adjuvant therapy depends greatly on tumor response assessed by pathology (pCR). Highly sensitive specific ctDNA assays have been shown to be prognostic value in metastatic settingbut not yet earlier settings. Methods: Tissue was collected from 26 Q-CROC-03 clinical trial TNBC patients before, during after...
Abstract Although 10% of pancreatic adenocarcinoma (PC) cases cluster in families, the genetic basis underlying most familial PC is unknown. Mutations BRCA-pathway genes (BRCA1/2, PALB2) are rare causes PC, but may have a more significant role French-Canadians (FC), population enriched with founder mutations these genes. We hypothesized that 1) represent 5% susceptibility to and, 2) without known causative other tumor suppressor In prospective clinic-based study, we screened unselected...
Abstract Background: Triple negative breast cancer (TNBC) is characterized by its aggressive phenotype and genomic instability. TNBC patients who do not respond to neoadjuvant chemotherapy have a very poor prognosis. Currently, little known about the mechanisms of drug resistance how overcome it in TNBC. Our study aims at identifying molecular factors enriched for residual tumors after standard chemotherapy. Methods: We obtained specimens from 60 participating clinical trial (Q-CROC-03)....
Abstract The prognosis of triple negative breast cancer that shows resistance and/or incomplete response to cytotoxic chemotherapy is poor. In order understand the mechanisms and genomic evolution TNBCs treated with chemotherapy, an international multi-center biopsy-driven clinical trial was created for collection study drug-resistant primary metastatic freshly frozen tumors (Q-CROC-03: NCT01276899). We consented 60 patients operable TNBC undergoing neoadjuvant Anthracycline/Taxane-based pre...
The response of triple-negative breast cancer (TNBC) patients to pre-operative (neoadjuvant chemotherapy) is a critical factor their outcome. To determine the effects chemotherapy on tumor genome and identify mutations associated with chemoresistance sensitivity, we performed whole exome sequencing pre/post-chemotherapy tumors matched lymphocytes from 26 patients. We observed great inter-tumoral heterogeneity no gene mutated recurrently in more than four besides TP53. Although degree...
Abstract Background: Liquid biopsies to monitor response treatment are a minimally invasive and highly attractive method for clinical application. Detection of ctDNA in plasma is now sensitive thanks the use novel specific techniques such as ddPCR. In present study we set out analyze utility using patients receiving standard neoadjuvant chemotherapy triple negative breast cancer. Methods: Serial blood was collected from cancer participating Q-CROC-03 trial (NCT01276899). The recruited...