Publications

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

2022

Patterns and determinants of adherence to colorectal cancer primary and secondary prevention recommendations in the BC Generations Project

Authors: Molly Sweeney-Magee, Carolyn Gotay, Mohammad Ehsanul Karim, Jennifer Telford, Trevor Dummer

Researchers assessed how 26,074 BCGP participants adhere to cancer prevention recommendations. They found that adherence to some behaviours was high, but clusters of poorer adherence were also highlighted. They suggested future work to evaluate targeted interventions to maximize adherence amongst lower socioeconomic status and health groups.

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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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2022

Is Food Outlet Accessibility a Significant Factor of Fruit and Vegetable Intake? Evidence from a Cross-Sectional Province-Wide Study in Quebec, Canada

Authors: Alex-Ane Mathieu, Éric Robitaille, Marie-Claude Paquette

This study aimed to understand the effect of the environment, particularly food outlet accessibility, on diet. Using data from 7,783 CARTaGENE participants, researchers found no significant results and suggest future research. However, relationships between fruit and vegetable intake and sex, income, and education were recognized.

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2022

Occupational Exposures and Lung Cancer Risk – An Analysis of the CARTaGENE Study

Authors: Saeedeh Moayedi-Nia, Romain Pasquet, Jack Siemiatycki, Anita Koushik, Vikki Ho

This study aimed to understand the relationship between common occupational agents (e.g., ashes, cooking fumes) and lung cancer risk. Researchers found that increased lung cancer risk was linked to many of these agents, but lower lung cancer risk was found among those exposed to carbon monoxide and polycyclic aromatic hydrocarbons from petroleum.

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2022

Association of essential tremor with novel risk loci: A genome-wide association study and meta-analysis

Authors: Calwing Liao, Charles-Etienne Castonguay, Karl Heilbron, Veikko Vuokila, Miranda Medeiros, Gabrielle Houle, Fulya Akçimen, Jay P. Ross, Helene Catoire, Monica Diez-Fairen, Jooeun Kang, Stefanie H. Mueller, Simon L. Girard, Franziska Hopfner, Delia Lorenz, Lorraine N. Clark, Alexandra I. Soto-Beasley, Stephan Klebe, Mark Hallett, Zbigniew K. Wszolek, Manuela Pendziwiat, Oswaldo Lorenzo-Betancor, Klaus Seppi, Daniela Berg, Carles Vilariño-Güell, Ronald B. Postuma, Geneviève Bernard, Nicolas Dupré, Joseph Jankovic, Claudia M. Testa, Owen A. Ross, Thomas Arzberger, Sylvain Chouinard, Elan D. Louis, Paola Mandich, Carmine Vitale, Paolo Barone, Elena García-Martín, Hortensia Alonso-Navarro, José A. G. Agúndez, Félix Javier Jiménez-Jiménez, Pau Pastor, Alex Rajput, Günther Deuschl, Gregor Kuhlenbaümer, Inge A. Meijer, Patrick A. Dion, Guy A. Rouleau, for the 23andMe Research Team

This study revealed five genome-wide significant loci associated with essential tremor (ET), one of the most common movement disorders. The researchers’ findings suggest that common genetic variation partly explains ET’s heritability.

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2021

Does the adenosine deaminase (ADA) gene confer risk of sleepwalking?

Authors: Simon Fournier, Yves Dauvilliers, Simon C. Warby, Marjorie Labrecque, Antonio Zadra, Soufiane Boucetta, Maryam El Gewely, Houda Kaddioui, Régis Lopez, Jacques Y. Montplaisir, Eric Bareke, Martine Tétreault, Alex Desautels

This study aimed to understand if ADA gene variants are related to sleepwalking. Using data from 157 CARTaGENE participants, as well as participants from other cohorts and databases, researchers found no association between the ADA gene and sleepwalking.

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2021

Investigation of the impact of commonly used medications on the oral microbiome of individuals living without major chronic conditions

Authors: Vanessa DeClercq, Jacob T. Nearing, Morgan G. I. Langille

Saliva samples from 1,214 Atlantic PATH participants were analyzed for gene sequencing and microbial community composition differences, particularly between non-, single-, and multi-drug users. Researchers found a minimal influence of the analyzed medications on the salivary microbiome for those with chronic conditions.

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2021

A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Authors: Caitlin T. Fierheller, Laure Guitton-Sert, Wejdan M. Alenezi, Timothée Revil, Kathleen K. Oros, Yuandi Gao, Karine Bedard, Suzanna L. Arcand, Corinne Serruya, Supriya Behl, Liliane Meunier, Hubert Fleury, Eleanor Fewings, Deepak N. Subramanian, Javad Nadaf, Jeffrey P. Bruce, Rachel Bell, Diane Provencher, William D. Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Jacek Majewski, Trevor J. Pugh, Marc Tischkowitz, Paul A. James, Ian G. Campbell, Celia M. T. Greenwood, Jiannis Ragoussis, Jean-Yves Masson, Patricia N. Tonin

Researchers sought to describe how new genes might be associated with ovarian cancer risk amongst 5,249 CARTaGENE participants. They found that a FANCI gene mutation is more common in familial ovarian cancer patients.

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2021

Predictors of CRC Stage at Diagnosis among Male and Female Adults Participating in a Prospective Cohort Study: Findings from Alberta’s Tomorrow Project

Authors: Monica Ghebrial, Michelle L. Aktary, Qinggang Wang, John J. Spinelli, Lorraine Shack, Paula J. Robson, Karen A. Kopciuk

This study aimed to uncover factors associated with colorectal cancer (CRC) at diagnosis in 267 Alberta Tomorrow Project participants. Researchers found that social support, having children, and caffeine intake were strong CRC stage predictors at diagnosis for males. In contrast, CRC family history, pregnancy, hysterectomy, menopausal hormone therapy, Pap test lifetime number, and household physical activity were strong CRC predictors at diagnosis for females.

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2021

Estimated prevalence of Niemann–Pick type C disease in Quebec

Authors: Marjorie Labrecque, Lahoud Touma, Claude Bhérer, Antoine Duquette & Martine Tétreault

Researchers sought to estimate the prevalence of Niemann-Pick type C disease – an autosomal recessive disease that often results in psychiatric problems in adults – in Québec and determine whether it is underdiagnosed in this province. With CARTaGENE RNA-sequencing data from 911 participants and exome sequencing from 198 participants, researchers estimated the prevalence as 0.61 in 100,000 births.

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