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


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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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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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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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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