Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health
The researchers sought to assess regional variation in screening uptake, identify factors to non-adherence to screening, and estimate adherence to screening in those with differing risk profiles. Using national CanPath data, they found adherence suboptimal amongst Canadians and noticed variation by region.
Mental health service use and associated predisposing, enabling and need factors in community living adults and older adults across Canada
The authors utilized data from the CanPath COVID-19 health survey (May to December 2020) to conduct multivariate logistic regression analysis to determine the association between mental health service use (MHSU) and predisposing, enabling, and need factors — derived from Andersen’s model of healthcare-seeking behaviour — among five regional cohorts. Among the 45,542 adults in the study population, 6.3% of respondents reported MHSU and need factors were consistently associated with MHSU.
Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort
This study aimed to validate a tool to predict lung cancer risk using data from CARTaGENE participants. It showed good accuracy in identifying lung cancer risk but underestimated the number of cases. This tool may require calibration adjustments for the Quebec population.
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
Researchers investigated families with a history of ovarian cancer that couldn’t be explained by known genetic risk factors. Using healthy controls from CARTaGENE, they applied a targeted gene approach and found rare genetic variants in DNA repair pathway genes, particularly in ERCC5, EXO1, FANCC, NEIL1, and NTHL1, in a significant portion of these families.
Circulating microRNA expression signatures accurately discriminate myalgic encephalomyelitis from fibromyalgia and comorbid conditions
Researchers examined the levels of 11 specific molecules called miRNAs in individuals with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), fibromyalgia (FM), and those with both conditions (ME/CFS + FM), as well as in healthy controls. Using samples from 38 CARTaGENE participants and other sources, they found distinct patterns of these miRNAs that can help differentiate between ME/CFS, FM, and ME/CFS + FM, indicating that these miRNAs could serve as potential biomarkers to aid in the accurate diagnosis of these complex illnesses.
Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene
Researchers investigated the genetic characteristics of the FANCI gene, which has been linked to an increased risk of ovarian cancer. Using data from 171 CARTaGENE participants and other sources, they confirmed that a specific FANCI variant is associated with ovarian cancer and discovered potential genetic links to other cancer types.
Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE
Researchers conducted the largest study to date evaluating non-invasive pulse waveform parameters’ association with cardiovascular events. By adding two waveform parameters to the existing atherosclerotic cardiovascular disease score, they improved cardiovascular prediction and reclassified up to 5.7% of patients in another risk category.
Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada
This abstract discusses a project aimed at linking cancer registry and administrative health data to Canada’s largest population health study, the Canadian Partnership for Tomorrow’s Health (CanPath). The project seeks to enrich the cancer research ecosystem in Canada by providing researchers with a comprehensive dataset that includes genetics, environment, lifestyle, and behaviour data. The linked data will be made available through a cloud-based solution called the CanPath Data Safe Haven, which is accessible to researchers through secure access. The project will address concerns related to the accessibility of cancer data in Canada, bring more value to existing data, and support an enhanced understanding of the impacts of cancer on marginalized populations.
Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis
Researchers aimed to identify rare genetic variations associated with adolescent idiopathic scoliosis (AIS) by examining the DNA of 60 CARTaGENE participants (healthy controls) and individuals from other sources. They found that the FAT3 gene, while not statistically significant on its own, showed an excess of rare genetic changes in AIS patients, and further investigations revealed specific variants within FAT3 that were more common in severe AIS cases compared to milder cases and healthy individuals, suggesting that FAT3 may play a role in the development of AIS.
The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population
This study aimed to identify specific genetic mutations associated with increased risk of ovarian cancer. The mutations they discovered were found in many early-onset cases, particularly RAD51D, suggesting their role in hereditary ovarian cancer and the importance of the genes in the development of this disease.