Publications

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

2023

Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases

Authors: Wejdan M Alenezi, Caitlin T Fierheller, Corinne Serruya, Timothée Revil, Kathleen K Oros, Deepak N Subramanian, Jeffrey Bruce, Dan Spiegelman, Trevor Pugh, Ian G Campbell, Anne-Marie Mes-Masson, Diane Provencher, William D Foulkes, Zaki El Haffaf, Guy Rouleau, Luigi Bouchard, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

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.

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2023

Relationships between Obesity and Incidence of Fractures in a Middle-Aged Population: A Study from the CARTaGENE Cohort

Authors: Anne-Frédérique Turcotte, Sonia Jean, Suzanne N Morin, Fabrice Mac-Way, Claudia Gagnon

The study examined the CARTaGENE cohort to evaluate the association between obesity and fracture incidence among middle-aged individuals, 40 to 70 years, and further stratified the data by sex. The authors determined that, in middle-aged individuals, obesity was associated with distal lower limb fracture risk among both men and women.

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2023

Mental health, cancer risk, and the mediating role of lifestyle factors in the CARTaGENE cohort study

Authors: Kaitlyn Gilham, Anne Gadermann, Trevor Dummer, Rachel A Murphy

This study investigates the associations between depression, anxiety, and cancer risk and the mediating effects of lifestyle. Using data from 34,571 CARTaGENE participants, researchers found positive links between mental health disorders, all cancers, and lung cancer risk, except for anxiety and lung cancer in women, where associations were lower when adjusting for sociodemographics, health and lifestyle. The study also found that smoking affected the relationship between mental health disorders and cancer risk. Overall, the study suggests that lifestyle factors, like smoking, may be important in understanding the relationship between mental health and cancer risk.

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2023

Circulating microRNA expression signatures accurately discriminate myalgic encephalomyelitis from fibromyalgia and comorbid conditions

Authors: Evguenia Nepotchatykh, Iurie Caraus, Wesam Elremaly, Corinne Leveau, Mohamed Elbakry, Christian Godbout, Bita Rostami-Afshari, Diana Petre, Nasrin Khatami, Anita Franco, Alain Moreau

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.

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2023

Food environment trajectories: a sequence analysis from the CARTaGENE cohort

Authors: Habila Adamou, Éric Robitaille, Marie-Claude Paquette, Alexandre Lebel

Researchers sought to categorize how people’s access to food changes over time based on their socioeconomic situations. Using data from 38,627 CARTaGENE participants from urban areas in Quebec, the findings revealed five patterns of food access, with those unable to work, living in larger households, and in low-income households having higher odds of experiencing limited access to food stores over time.

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2023

Molecular Genetic Characteristics of FANCI, a Proposed New Ovarian Cancer Predisposing Gene

Authors: Caitlin T Fierheller, Wejdan M Alenezi, Corinne Serruya, Timothée Revil, Setor Amuzu, Karine Bedard, Deepak N Subramanian, Eleanor Fewings, Jeffrey P Bruce, Stephenie Prokopec, Luigi Bouchard, Diane Provencher, William D Foulkes, Zaki El Haffaf, Anne-Marie Mes-Masson, Marc Tischkowitz, Ian G Campbell, Trevor J Pugh, Celia M T Greenwood, Jiannis Ragoussis, Patricia N Tonin

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.

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2022

The role of ultra-processed food consumption and depression on type 2 diabetes incidence: a prospective community study in Quebec, Canada

Authors: Akankasha Sen, Anne-Sophie Brazeau, Sonya Deschênes, Hugo Ramiro Melgar-Quiñonez, Norbert Schmitz

Researchers analyzed the association between depression and ultra-processed food (UPF) consumption as risk factors for developing type 2 diabetes (T2D) using baseline data (2009-2010) from 3,880 CARTaGENE participants. Participants with high depressive symptoms and high UPF consumption were at the highest risk for T2D. The study suggests that early management and monitoring of both risk factors could be essential for diabetes prevention.

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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 human mitochondrial RNA cleavage sites and candidate RNA processing factors

Authors: Guillermo Carbajosa, Aminah T Ali, Alan Hodgkinson

Researchers created a technique to find and measure specific RNA cutting events among 799 CARTaGENE participants and samples from the GTEx project. They uncovered new sites where RNA is cut during mitochondrial processing and discovered genes linked to these processes, shedding light on how genetic variations might affect mitochondrial functions and health conditions.

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