A5107386528- Wnt/β-catenin signaling in development and cancer
- Genetic factors in colorectal cancer
- BRCA gene mutations in cancer
- Helicobacter pylori-related gastroenterology studies
- Cancer-related gene regulation
- Gastric Cancer Management and Outcomes
- Kruppel-like factors research
- Lung Cancer Treatments and Mutations
- Ovarian cancer diagnosis and treatment
- Cancer Genomics and Diagnostics
- Congenital Ear and Nasal Anomalies
- Genetic and Kidney Cyst Diseases
- Congenital Anomalies and Fetal Surgery
- Colorectal Cancer Treatments and Studies
- Melanoma and MAPK Pathways
- Tracheal and airway disorders
- Head and Neck Anomalies
- RNA modifications and cancer
- Hedgehog Signaling Pathway Studies
- PI3K/AKT/mTOR signaling in cancer
- Cancer Cells and Metastasis
- Epigenetics and DNA Methylation
University of British Columbia
2006-2022
BC Cancer Agency
2004-2021
Simon Fraser University
2012
Canada's Michael Smith Genome Sciences Centre
2012
Melbourne Health
2011
Creighton University
2007
University of Alberta
1992-1994
Abstract Background Subclassification of ovarian carcinomas can be used to guide treatment and determine prognosis. Germline somatic mutations, loss heterozygosity (LOH), epigenetic events such as promoter hypermethylation lead decreased expression BRCA1/2 in cancers. The mechanism is a potential method subclassifying high grade serous carcinomas. Methods A consecutive series 49 cancers was assessed for mutations status BRCA1 BRCA2, LOH at the BRCA2 loci, methylation promoter, BRCA1, PTEN,...
Abstract Purpose: To identify germ line CDH1 mutations in hereditary diffuse gastric cancer (HDGC) families and develop guidelines for management of at risk individuals. Experimental Design: We ascertained 31 HDGC previously unreported families, including 10 isolated early-onset (DGC) cases. Screening was done by denaturing high-performance liquid chromatography automated DNA sequencing. Results: identified eight inactivating one missense mutation. The mutation conferred vitro loss protein...
Abstract We describe a mother and her 3 children with variable scalp defects limb consistent diagnosis of Adams Oliver syndrome also presenting additional anomalies including congenital heart disease, microcephaly, epilepsy, mental retardation, arrhinencephaly, hydrocephaly, anatomic bronchial anomalies, renal anomalies. The clinical variation between the individuals is more pronounced than in previously reported families. © 1994 Wiley‐Liss, Inc.
Approximately one third of the hereditary diffuse gastric cancer (HDGC) families carry germline mutations in E-cadherin gene (CDH1). Risk prediction members with this rare but deadly could be improved by identification additional HDGC genes non-CDH1 families.Affected individuals from 22 CDH1 mutation-negative were screened for four catenin genes: CTNNA1, CTNNB1, JUP, and CTNND1. Catenins interact closely molecules cells, are therefore logical candidate mutation screening families.No...
Approximately 10% of gastric cancer cases show familial clustering but only 1-3% carcinomas arise as a result inherited predisposition syndromes. Direct proof that Hereditary Gastric Cancer genetic disease with germline gene defect has come from the demonstration co-segregation E-cadherin (CDH1) mutations early onset diffuse in families an autosomal dominant pattern inheritance (HDGC). is transmembrane calcium-dependent cell-adhesion molecule involved cell-junction formation and maintenance...
Abstract Hereditary diffuse gastric cancer (HDGC) is a syndrome caused by germline variants in CDH1 , the gene encoding cell–cell adhesion molecule E‐cadherin. Loss of E‐cadherin associated with cellular dedifferentiation and poor prognosis, but mechanisms through which loss initiates HDGC are not known. Using single‐cell RNA sequencing, we explored transcriptional landscape murine organoid model to characterize impact early tumourigenesis. Progenitor populations stratified squamous simple...
Abstract We describe a 3‐generation family with lacrimo‐auriculo‐dento‐digital syndrome (LADD). In addition to the well described abnormalities of ears, teeth, lacrimal apparatus and digits, patients exhibit several previously undescribed anomalies, including minor facial anomalies (broad forehead, telecanthus, bulbous nasal tip, full jaw, ptosis flared nostrils), involvement first second toes, congenital renal disease causing death in neonatal period 2 cases. © 1992 Wiley‐Liss, Inc.
Inuit are the Indigenous Arctic peoples and residents of Canadian territory Nunavut who have highest global rate lung cancer. Given cancer's mortality, histological genomic characterization was undertaken to better understand disease biology. We retrospectively studied all cases from Nunavut's Qikiqtani (Baffin) region, referred Ottawa Hospital Cancer Center between 2001 2011. Demographics were compiled medical records tumor samples underwent pathologic/histologic confirmation. Tumors...
4500 Background: Hereditary diffuse gastric cancer (HDGC) is a potentially fatal disease that occurs due to mutations in the E- cadherin (CDH1) gene, as discovered 1998. Its penetrance ranges between 70–80%. morbidity and mortality can be altered favorably through genetic counseling, germline mutation testing, highly-targeted management includes prophylactic total gastrectomy. Lobular breast has been identified an integral lesion HDGC. Methods: This international collaborative group on HDGC...
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