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.
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.
Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease
The Global Biobank Meta-analysis Initiative is a collaborative network of 23 biobanks, representing more than 2.2M consented participants with genetic data linked to electronic health records. This collaborative effort will improve genome-wide association studies’ power for diseases, benefit understudied diseases, and improve risk prediction.
Population-Based Recalibration of the Framingham Risk Score and Pooled Cohort Equations
The Framingham Risk Score (FRS) and Pooled Cohort Equations (PCEs) overestimate risk in many contemporary cohorts. This study sought to determine if the recalibration of these scores using contemporary population-level data improves risk stratification for statin therapy.
Cohort Profile: The Ontario Health Study (OHS)
OHS’s cohort profile outlines its research platform’s history and value for the broader scientific community. OHS follows 225,000 over their lifetime, actively and passively, making de-identified genomic, environmental, lifestyle, and electronic health data available to cancer and chronic disease researchers.
Uncovering the Contribution of Moderate-Penetrance Susceptibility Genes to Breast Cancer by Whole-Exome Sequencing and Targeted Enrichment Sequencing of Candidate Genes in Women of European Ancestry
The aim of this study was to perform a large-scale whole-exome sequencing study, followed by a targeted validation, in breast cancer patients and healthy women of European descent. Using data from 920 CARTaGENE participants and four other sources, the researchers identified 20 novel genes with modest association evidence for overall and subtype-specific breast cancers.
Arsenic Speciation and Metallomics Profiling of Human Toenails as a Biomarker to Assess Prostate Cancer Cases: Atlantic PATH Cohort Study
This study aimed to characterize arsenic species and metallome profiles in toenails and urine samples, compare these profiles between prostate cancer cases and controls, and evaluate the utility of toenail and urine biomarkers. Toenails were found to be viable biomarkers for altered arsenic speciation in prostate cancer cases.
Developing a Socioeconomic Status Index for Chronic Disease Prevention Research in Canada
Researchers developed a socioeconomic status (SES) index and assessed its associations with smoking amongst 17,371 Alberta’s Tomorrow Project participants. They found that their index was negatively related to smoking intensity.
Recombination affects allele-specific expression of deleterious variants in human populations
This study investigates how changes in the genetic makeup of a population, influenced by random genetic drift and selective forces, impact the variation in observable traits over time. The researchers found that specific factors like recombination rates and population size affect patterns of allele-specific gene expression, with regions of high recombination showing a higher efficiency in using this mechanism to suppress harmful genetic variations.
Lifestyle factors and lung cancer risk among never smokers in the Canadian Partnership for Tomorrow’s Health (CanPath)
Data from 950 CanPath participants were analyzed to understand why 15-25% of lung cancers occur in never smokers. Researchers found a link between lung cancer risk, sleep, and fruit and vegetable intake amongst never smokers.