Publications

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

2023

The evolution of SARS-CoV-2 seroprevalence in Canada: a time-series study, 2020-2023

Authors: Tanya J. Murphy, Hanna Swail, Jaspreet Jain, Maureen Anderson, Philip Awadalla, Lesley Behl, Patrick E. Brown, Carmen L. Charlton, Karen Colwill, Steven J. Drews, Anne-Claude Gingras, Deena Hinshaw, Prabhat Jha, Jamil N. Kanji, Victoria A. Kirsh, Amanda L. S. Lang, Marc-André Langlois, Stephen Lee, Antoine Lewin, Sheila F. O'Brien, Chantale Pambrun, Kimberly Skead, David A. Stephens, Derek R. Stein, Graham Tipples, Paul G. Van Caeseele, Timothy G. Evans, Olivia Oxlade, Bruce D. Mazer, David L. Buckeridge

This study used data from the COVID-19 Immunity Task Force, which includes CanPath data, to track the prevalence of SARS-CoV-2 antibodies in the Canadian population over the pre-vaccination period, the vaccine rollout, and the emergence of the Omicron variant. By March 2023, over three-quarters of the population had detectable antibodies, with the most substantial increases seen after the arrival of the Omicron variant. However, variations in immunity by age and geography highlight the importance of tailoring public health policies and clinical decisions to local patterns of population immunity, considering factors like potential antibody decline and the emergence of new variants that might evade immunity.

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2023

Depression, anxiety, and the risk of cancer: An individual participant data meta-analysis

Authors: Lonneke A van Tuijl, Maartje Basten, Kuan-Yu Pan, Roel Vermeulen, Lützen Portengen, Alexander de Graeff, Joost Dekker, Mirjam I Geerlings, Adriaan Hoogendoorn, Femke Lamers, Adri C Voogd, Jessica Abell, Philip Awadalla, Aartjan T F Beekman, Ottar Bjerkeset, Andy Boyd, Yunsong Cui, Philipp Frank, Henrike Galenkamp, Bert Garssen, Sean Hellingman, Martijn Huisman, Anke Huss, Trynke R de Jong, Melanie R Keats, Almar A L Kok, Steinar Krokstad, Flora E van Leeuwen, Annemarie I Luik, Nolwenn Noisel, N Charlotte Onland-Moret, Yves Payette, Brenda W J H Penninx, Ina Rissanen, Annelieke M Roest, Rikje Ruiter, Robert A Schoevers, David Soave, Mandy Spaan, Andrew Steptoe, Karien Stronks, Erik R Sund, Ellen Sweeney, Emma L Twait, Alison Teyhan, W M Monique Verschuren, Kimberly D van der Willik, Judith G M Rosmalen, Adelita V Ranchor

Researchers performed meta-analyses within the Psychosocial Factors and Cancer Incidence (PSY-CA) consortium to develop a stronger foundation for addressing associations between depression, anxiety, and the incidence of various cancer types. They found that depression and anxiety are not related to increased risk for most cancer outcomes, except for lung and smoking-related cancers.

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2023

Association of infertility with type and timing of menopause: a prospective cohort study

Authors: Natalie V. Scime, Hilary K. Brown, Alison K. Shea, Erin A. Brennand

This study sought to uncover the association between past infertility and type and timing of menopause among midlife women. Using data from 13,243 midlife females from Alberta’s Tomorrow Project, the researchers found that women with past infertility were more likely to experience surgical menopause and had greater risk of earlier surgical menopause until age 43 years but experienced no differences in the timing of natural menopause.

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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

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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2022

The cell-free DNA methylome captures distinctions between localized and metastatic prostate tumors

Authors: S. J. Chen, J. Petricca, W. Ye, J. Guan, Y. Zeng, N. Cheng, L. Gong, S. Y. Shen, J. T. Hua, M. Crumbaker, M. Fraser, S. Liu, S. V. Bratman, T. van der Kwast, T. Pugh, A. M. Joshua, D. D. De Carvalho, K. N. Chi, P. Awadalla, G. Ji, F. Feng, A. W. Wyatt, H. H. He.

The researchers investigated how liquid biopsy using cell-free DNA (cfDNA) methylome analysis can provide insights into the biology of metastatic prostate cancer (mPCa). They analyzed plasma DNA methylomes from 60 patients with localized prostate cancer and 175 patients with metastatic disease. Their findings revealed global hypermethylation in metastatic samples, accompanied by hypomethylation in pericentromeric regions. The authors suggest that liquid biopsy offers a minimally invasive and accurate approach to assess disease progression and potential therapeutic targets in prostate cancer.

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2022

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Authors: Wei Zhou, Masahiro Kanai, Kuan-Han H Wu, Humaira Rasheed, Kristin Tsuo, Jibril B Hirbo, Ying Wang, Arjun Bhattacharya, Huiling Zhao, Shinichi Namba, Ida Surakka, Brooke N Wolford, Valeria Lo Faro, Esteban A Lopera-Maya, Kristi Läll, Marie-Julie Favé, Juulia J Partanen, Sinéad B Chapman, Juha Karjalainen, Mitja Kurki, Mutaamba Maasha, Ben M Brumpton, Sameer Chavan, Tzu-Ting Chen, Michelle Daya, Yi Ding, Yen-Chen A Feng, Lindsay A Guare, Christopher R Gignoux, Sarah E Graham, Whitney E Hornsby, Nathan Ingold, Said I Ismail, Ruth Johnson, Triin Laisk, Kuang Lin, Jun Lv, Iona Y Millwood, Sonia Moreno-Grau, Kisung Nam, Priit Palta, Anita Pandit, Michael H Preuss, Chadi Saad, Shefali Setia-Verma, Unnur Thorsteinsdottir, Jasmina Uzunovic, Anurag Verma, Matthew Zawistowski, Xue Zhong, Nahla Afifi, Kawthar M Al-Dabhani, Asma Al Thani, Yuki Bradford, Archie Campbell, Kristy Crooks, Geertruida H de Bock, Scott M Damrauer, Nicholas J Douville, Sarah Finer, Lars G Fritsche, Eleni Fthenou, Gilberto Gonzalez-Arroyo, Christopher J Griffiths, Yu Guo, Karen A Hunt, Alexander Ioannidis, Nomdo M Jansonius, Takahiro Konuma, Ming Ta Michael Lee, Arturo Lopez-Pineda, Yuta Matsuda, Riccardo E Marioni, Babak Moatamed, Marco A Nava-Aguilar, Kensuke Numakura, Snehal Patil, Nicholas Rafaels, Anne Richmond, Agustin Rojas-Muñoz, Jonathan A Shortt, Peter Straub, Ran Tao, Brett Vanderwerff, Manvi Vernekar, Yogasudha Veturi, Kathleen C Barnes, Marike Boezen, Zhengming Chen, Chia-Yen Chen, Judy Cho, George Davey Smith, Hilary K Finucane, Lude Franke, Eric R Gamazon, Andrea Ganna, Tom R Gaunt, Tian Ge, Hailiang Huang, Jennifer Huffman, Nicholas Katsanis, Jukka T Koskela, Clara Lajonchere, Matthew H Law, Liming Li, Cecilia M Lindgren, Ruth J F Loos, Stuart MacGregor, Koichi Matsuda, Catherine M Olsen, David J Porteous, Jordan A Shavit, Harold Snieder, Tomohiro Takano, Richard C Trembath, Judith M Vonk, David C Whiteman, Stephen J Wicks, Cisca Wijmenga, John Wright, Jie Zheng, Xiang Zhou, Philip Awadalla, Michael Boehnke, Carlos D Bustamante, Nancy J Cox, Segun Fatumo, Daniel H Geschwind, Caroline Hayward, Kristian Hveem, Eimear E Kenny, Seunggeun Lee, Yen-Feng Lin, Hamdi Mbarek, Reedik Mägi, Hilary C Martin, Sarah E Medland, Yukinori Okada, Aarno V Palotie, Bogdan Pasaniuc, Daniel J Rader, Marylyn D Ritchie, Serena Sanna, Jordan W Smoller, Kari Stefansson, David A van Heel, Robin G Walters, Sebastian Zöllner; Biobank of the Americas; Biobank Japan Project; BioMe; BioVU; CanPath - Ontario Health Study; China Kadoorie Biobank Collaborative Group; Colorado Center for Personalized Medicine; deCODE Genetics; Estonian Biobank; FinnGen; Generation Scotland; Genes & Health Research Team; LifeLines; Mass General Brigham Biobank; Michigan Genomics Initiative; National Biobank of Korea; Penn Medicine BioBank; Qatar Biobank; QSkin Sun and Health Study; Taiwan Biobank; HUNT Study; UCLA ATLAS Community Health Initiative; Uganda Genome Resource; UK Biobank; Alicia R Martin, Cristen J Willer, Mark J Daly, Benjamin M Neale

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.

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2022

Population-Based Recalibration of the Framingham Risk Score and Pooled Cohort Equations

Authors: Maneesh Sud, Atul Sivaswamy, Anna Chu, Peter C. Austin, Todd J. Anderson, David M.J. Naimark, Michael E. Farkouh, Douglas S. Lee, Idan Roifman, George Thanassoulis, Karen Tu, Jacob A. Udell, Harindra C. Wijeysundera, and Dennis T. Ko

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.

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2022

Cohort Profile: The Ontario Health Study (OHS)

Authors: Victoria A Kirsh, Kimberly Skead, Kelly McDonald, Nancy Kreiger, Julian Little, Karen Menard, John McLaughlin, Sutapa Mukherjee, Lyle J Palmer, Vivek Goel, Mark P Purdue, Philip Awadalla

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.

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2022

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

Authors: Martine Dumont, Nana Weber-Lassalle, Charles Joly-Beauparlant, Corinna Ernst, Arnaud Droit, Bing-Jian Feng, Stéphane Dubois, Annie-Claude Collin-Deschesnes, Penny Soucy, Maxime Vallée, Frédéric Fournier, Audrey Lemaçon, Muriel A Adank, Jamie Allen, Janine Altmüller, Norbert Arnold, Margreet G E M Ausems, Riccardo Berutti, Manjeet K Bolla, Shelley Bull, Sara Carvalho, Sten Cornelissen, Michael R Dufault, Alison M Dunning, Christoph Engel, Andrea Gehrig, Willemina R R Geurts-Giele, Christian Gieger, Jessica Green, Karl Hackmann, Mohamed Helmy, Julia Hentschel, Frans B L Hogervorst, Antoinette Hollestelle, Maartje J Hooning, Judit Horváth, M Arfan Ikram, Silke Kaulfuß, Renske Keeman, Da Kuang, Craig Luccarini, Wolfgang Maier, John W M Martens, Dieter Niederacher, Peter Nürnberg, Claus-Eric Ott, Annette Peters, Paul D P Pharoah, Alfredo Ramirez, Juliane Ramser, Steffi Riedel-Heller, Gunnar Schmidt, Mitul Shah, Martin Scherer, Antje Stäbler, Tim M Strom, Christian Sutter, Holger Thiele, Christi J van Asperen, Lizet van der Kolk, Rob B van der Luijt, Alexander E Volk, Michael Wagner, Quinten Waisfisz, Qin Wang, Shan Wang-Gohrke, Bernhard H F Weber, Genome Of The Netherlands Project, Ghs Study Group, Peter Devilee, Sean Tavtigian, Gary D Bader, Alfons Meindl, David E Goldgar, Irene L Andrulis, Rita K Schmutzler, Douglas F Easton, Marjanka K Schmidt, Eric Hahnen, Jacques Simard

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.

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