Publications

These publications are examples of research made possible with data from CanPath and its regional cohorts.

2023

Provincial variation in colorectal cancer screening adherence in Canada; evidence from the Canadian Partnership for Tomorrow’s Health

Authors: Maryam Darvishian, Amina Moustaqim-Barrette, Philip Awadalla, Parveen Bhatti, Philippe Broet, Kelly McDonald, Rachel A. Murphy, Kimberly Skead, Robin Urquhart, Jennifer Vena, Trevor J. B. Dummer

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.

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2023

Evaluation of the accuracy of the PLCOm2012 6-year lung cancer risk prediction model among smokers in the CARTaGENE population-based cohort

Authors: Rodolphe Jantzen, Nicole Ezer, Sophie Camilleri-Broët, Martin C. Tammemägi, Philippe Broët

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.

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2022

Socio-Demographic Factors Associated With COVID-19 Vaccine Hesitancy Among Middle-Aged Adults During the Quebec’s Vaccination Campaign

Authors: Rodolphe Jantzen, Mathieu Maltais, Philippe Broët

This study aimed to describe how socioeconomic and demographic characteristics affect vaccine hesitancy. Using data from 6,105 CARTaGENE participants, researchers found that those born outside of Canada and those with a household income under $100,000 had the greatest hesitancy.

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2022

Five-year absolute risk estimates of colorectal cancer based on CCRAT model and polygenic risk scores: A validation study using the Quebec population-based cohort CARTaGENE

Authors: Rodolphe Jantzen, Yves Payette, Thibault de Malliard, Catherine Labbé, Nolwenn Noisel, Philippe Broët

This study aimed to assess the Colorectal Cancer Risk Assessment tool’s predictive performance alongside three polygenic risk scores to predict the occurrence of colorectal cancer within five years. Using data from 6,747 CARTaGENE participants, the researchers found that this tool requires better calibrations before practical use in Québec.

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2021

Epidemiological characteristics of the COVID-19 spring outbreak in Quebec, Canada: a population-based study

Authors: Rodolphe Jantzen, Nolwenn Noisel, Sophie Camilleri-Broet, Catherine Labbe, Thibault de Malliard, Yves Payette, Philippe Broet

This study examined the epidemiological and socio-economic impact of the spring 2020 outbreak of COVID-19 on the Quebec population. An online survey of the participants of CARTaGENE was conducted, with 8,129 respondents. The study found some discrepancies between the symptoms associated with being tested and being positive. The results also emphasize the need for increasing the accessibility of testing for the general population.

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2021

Validation of breast cancer risk assessment tools on a French-Canadian population-based cohort

Authors: Rodolphe Jantzen, Yves Payette, Thibault de Malliard, Catherine Labbe, Nolwenn Noisel, Philippe Broet

This study evaluated the use of the Breast Cancer Risk Assessment Tool (BCRAT), International Breast Cancer Intervention Study risk evaluation tool (IBIS), Polygenic Risk Scores (PRS) and combined scores to predict the occurrence of invasive breast cancers at 5 years in a French-Canadian population.

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2021

Agreement in the CARTaGENE cohort between self-reported medication use and claim data

Authors: Cristiano Moura, Yves Payette, Catherine Boileau, Michal Abrahamowicz, Louise Pilote, Sasha Bernatsky

The research team investigated the agreement of self-reported medication use in CARTaGENE baseline data with provincial health insurance records. Overall, there was a reasonable agreement between the two data sources, but important variations were found for the different drug classes.

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2020

Diabetes, Brain Infarcts, Cognition and Small Vessels in the Canadian Alliance for Healthy Hearts and Minds Study

Authors: Hertzel Gerstein, Eric Smith, Chinthanie Ramasundarahettige, Dipika Desai, Philip Awadalla, Philippe Broet, Sandra Black, Trevor Dummer, Jason Hicks, Alan Moody, Jean-Claude Tardif, Koon Teo, Jennifer Vena, Salim Yusuf, Douglas Lee, Matthias Friedrich, Sonia Anand

The CAHHM study collected brain and carotid magnetic resonance imaging (MRI) and two cognitive tests (DSST and MoCA) in a cross-sectional sample of 7,733 men and women. It was concluded that small vessel disease characterizes much of the relationship between diabetes and vascular brain injury. However, additional factors are required to disentangle the relationship between diabetes and cognitive impairment.

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2020

Quantifying the Predictive Accuracy of a Polygenic Risk Score for Predicting Incident Cancer Cases: Application to the CARTaGENE Cohort

Authors: Julianne Duhaze, Rodolpje Jantzen, Yves Payette, Thibault De Malliard, Catherine Labbe, Nolwenn Noisel, Philippe Broet

This study evaluated the 5-year predictivity of an 18-single nucleotide polymorphism PRS for incident breast cancer cases in the CARTaGENE cohort using pseudo R^2 indices. It concluded that the proposed pseudo-R^2 is easy to implement and well suited to evaluate PRS for predicting incident events in cohort studies.

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2017

Allele-specific expression reveals interactions between genetic variation and environment

Authors: David Knowles, Joe Davis, Hilary Edgington, Anil Raj, Marie-Julie Fave, Xiaowei Zhu, James Potash, Myrna Weissman, Jianxin Shin, Douglas Levinson, Philip Awadalla, Sara Mostafavi, Stephen Montgomery, Alexis Battle

Combining whole-blood RNA-seq with extensive environmental annotations collected from 922 human individuals, we identified 35 GxE interactions, compared with only four using standard GxE interaction testing. EAGLE provides new opportunities for researchers to identify GxE interactions using functional genomic data.

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