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


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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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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Long-term exposure to a mixture of industrial SO 2, NO 2, and PM 2.5 and anti-citrullinated protein antibody positivity

Authors: Naizhou Zhao, Audrey Smagiassi, Marianne Hatzopoulou, Ines Colmegna, Marie Hudson, Marvin Fritzler, Philip Awadalla, Sasha Bernatsky

The research team looked at exposures to SO2, NO2, and fine particles matter on anti-citrullinated protein antibodies, a characteristic biomarker for rheumatoid arthritis (RA). It was found that there was a positive correlation between ACPA and industrial emissions of PM2.5 and SO2.

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Founder BRCA1/BRCA2/PALB2 pathogenic variants in French-Canadian breast cancer cases and controls

Authors: Supriya Behl, Nancy Hamel, Manon de Laduarantaye, Stephanie Lepage, Rejean LaPointe, Anne-Marie Mes-Massson, William Foulkes

The purpose of this study was to evaluate the efficacy of genetic testing for these variants of the BRCA gene in Montreal French Canadians. A total of 555 breast cancer cases unselected for family history or age of diagnosis were genotyped, along with 1940 controls without a personal or family history of cancer. Almost 10% of the early onset cases of BC were heterozygous for founder BRCA1 or BRCA2. 7 of the 20 variants of the breast cancer gene tested for were found in this study.

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Industrial air emissions, and proximity to major industrial emitters, are associated with anti-citrullinated protein antibodies

Authors: Sasha Bernatsky, Audrey Smargiassi, Lawrence Joseph, Philip Awadalla, Ines Colmega, Marie Hudson, Marvin Fritzler

They assessed the relationships between PM25, SO2, and ACPA which is a marker for RA, they found there was a positive association between ACPA and industrial PM2.5/SO2 emissions. Finally there was a correlation between air pollution from industrial emissions and ACPA suggests a role for these exposures in RA.

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