Publications

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

2022

Prediction of Cardiovascular Events by Pulse Waveform Parameters: Analysis of CARTaGENE

Authors: Louis-Charles Desbiens, Catherine Fortier, Annie-Claire Nadeau-Fredette, François Madore, Bernhard Hametner, Siegfried Wassertheurer, Mohsen Agharazii, Rémi Goupil

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.

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2022

Harnessing the power of data linkage to enrich the cancer research ecosystem in Canada

Authors: Robin Urquhart, Philip Awadalla, Parveen Bhatti, Trevor Dummer, Simon Gravel, Jennifer Vena, Riaz Alvi, Philippe Broet, Cynthia Kendell, Victoria Kirsh, Guillaume Lettre, Kimberly Skead, Grace Shen-Tu, Ellen Sweeney, Donna Turner

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.

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2022

Identification of FAT3 as a new candidate gene for adolescent idiopathic scoliosis

Authors: Dina Nada, Cédric Julien, Simon Papillon-Cavanagh, Jacek Majewski, Mohamed Elbakry, Wesam Elremaly, Mark E Samuels, Alain Moreau

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.

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2022

The Genetic and Molecular Analyses of RAD51C and RAD51D Identifies Rare Variants Implicated in Hereditary Ovarian Cancer from a Genetically Unique Population

Authors: Wejdan M Alenezi, Larissa Milano, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Kathleen K Oros, Supriya Behl, Suzanna L Arcand, Porangana Nayar, Dan Spiegelman, Simon Gravel, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Zaki El Haffaf, Guy Rouleau, Luigi Bouchard, Celia M T Greenwood, Jean-Yves Masson, Jiannis Ragoussis, Patricia N Tonin

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.

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2022

Evaluation of Adiposity and Cognitive Function in Adults

Authors: Sonia S. Anand, Matthias G. Friedrich, Douglas S. Lee, Phillip Awadalla, J. P. Després, Dipika Desai, Russell J. de Souza, Trevor Dummer, Grace Parraga, Eric Larose, Scott A. Lear, Koon K. Teo, Paul Poirier, Karleen M. Schulze, Dorota Szczesniak, Jean-Claude Tardif, Jennifer Vena, Katarzyna Zatonska, Salim Yusuf, Eric E. Smith, the Canadian Alliance of Healthy Hearts and Minds (CAHHM), the Prospective Urban and Rural Epidemiological (PURE) Study Investigators

Researchers sought to undercover the association between adipose tissue (amount and distribution) and cognitive scores. Using data from 9,189 participants, they found that higher visceral adipose tissue and body fat percentage correlated with increased vascular brain injuries and cardiovascular risk factors, as well as lower cognitive scores.

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2021

Predictors of long-term use of prescription opioids in the community-dwelling population of adults without a cancer diagnosis: a retrospective cohort study

Authors: Audrey Béliveau, Anne-Marie Castilloux, Cara Tannenbaum, Philippe Vincent, Cristiano Soares de Moura, Sasha Bernatsky, Yola Moride

This study aimed to identify risk factors for and predictors of long-term use of prescription opioids in the community-dwelling population of adults without a diagnosis of cancer, to inform practice change at the point of care. It was found that limiting the initial supply to no more than 7 days and limiting doses to 90 MME/day or less are actions that could be undertaken at the point of care to prevent long-term use.

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2021

Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer

Authors: Islam Elkholi, Massimo Di Iorio, Somayyeh Fahiminiya, Suzanna Arcand, HyeRim Han, Clara Nogué, Supriya Behl, Nancy Hamel, Sylvie Giroux, Manon de Ladurantaye, Olga Aleynikova, Walter Gotlieb, Jean-François Côté, François Rousseau, Patricia Tonin, Diane Provencher, Anne-Marie MesMasson, Mohammad Akbari, Barbara Rivera, William Foulkes

This study investigated if MRE11A is a true predisposition gene for hereditary breast and ovarian cancer. Investigations suggested that the identified variant is not associated with an increased risk of developing breast or ovarian cancer, and suggests a lack of clinical utility of MRE11A testing in HBOC, at least in the White/Caucasian populations.

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