Search

Your search keyword '"Bedard, Karine"' showing total 23 results
Start Over Author "Bedard, Karine"
23 results on '"Bedard, Karine"'

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

Author

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

Published
2021
Full Text
View/download PDF

4. A Highly Diverse Portrait: Heterogeneity of Neuropsychological Profiles in cblC Defect

Author

Bellerose, Jenny, Neugnot-Cerioli, Mathilde, Bédard, Karine, Brunel-Guitton, Catherine, Mitchell, Grant A., Ospina, Luis H., Beauchamp, Miriam H., Baumgartner, Matthias R., Series editor, Patterson, Marc, Series editor, Rahman, Shamima, Series editor, Peters, Verena, Series editor, Morava, Eva, Editor-in-chief, Zschocke, Johannes, Series editor, and Baumgartner, Matthias, editor

Published
2016
Full Text
View/download PDF

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

Author

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

Published
2023
Full Text
View/download PDF

10. Practice guidelines for BRCA1/2 tumour testing in ovarian cancer

Author

Grafodatskaya, Daria, primary, O’Rielly, Darren D, additional, Bedard, Karine, additional, Butcher, Darci T, additional, Howlett, Christopher J, additional, Lytwyn, Alice, additional, McCready, Elizabeth, additional, Parboosingh, Jillian, additional, Spriggs, Elizabeth L, additional, Vaags, Andrea K, additional, and Stockley, Tracy L, additional

Published
2022
Full Text
View/download PDF

11. Additional file 3 of A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Author

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

Abstract

Additional file 3. All supplementary figures referenced in the manuscript. Figures S1-S7.

Published
2021
Full Text
View/download PDF

12. Additional file 2 of A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Author

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

Abstract

Additional file 2 Supplementary note describing the genetic analyses of POLG c.2492A>G found to be in linkage with FANCI c.1813C>T carriers.

Published
2021
Full Text
View/download PDF

13. Additional file 4 of A functionally impaired missense variant identified in French Canadian families implicates FANCI as a candidate ovarian cancer-predisposing gene

Author

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

Abstract

Additional file 4. All full blots associated with Figure 2, Fig, S1, and Fig. S2.

Published
2021
Full Text
View/download PDF

15. Effects of a high-glucose environment on the pituitary growth hormone-releasing hormone receptor: type 1 diabetes compared with in vitro glucotoxicity

Author

Bedard, Karine, Strecko, Julie, Theriault, Karyne, Bedard, Julie, Veyrat-Durebex, Christelle, and Gaudreau, Pierrette

Subjects
Blood sugar -- Physiological aspects, Blood sugar -- Research, Hormone receptors -- Physiological aspects, Type 1 diabetes -- Physiological aspects, Biological sciences
Abstract

The present study investigated the effects of diabetes and high glucose on GHRH receptor (GHRH-R) mRNA and protein levels in the pituitary of diabetic rats 2, 21, and 60 days post-streptozotocin (post-STZ) administration. Two days post-STZ, the 2.5-kb GHRH-R mRNA transcript was increased. Twenty-one days post-STZ, both the 2.5- and 4-kb transcripts and a 72-kDa [sup.125]I-GHRH-GHRH-R complex were elevated. Sixty days post-STZ, the 4-kb transcript remained increased and the 45-kDa [sup.125]I-GHRH-GHRH-R complex (functional receptor) was decreased. Hypothalamic GHRH mRNA and serum total IGF-I levels were reduced at all three time points. To better understand the role of high glucose on GHRH-R regulation, time-course effects of 33 compared with 6 mM D-glucose (DG) were examined in cultured anterior pituitary cells from 2-mo-old healthy rats. Membrane lipoperoxidation was present in 33 mM DG, and GHRH-R mRNA levels were diminished after 24 h, Fluo-GHRH internalization was marginal after 16-24 h, and GHRH-induced cAMP levels were decreased after 24 and 48 h. Altogether, these results indicate that the increase of the 2.5-kb GHRH-R mRNA transcript in vivo could be a consequence of a decrease of hypothalamic GHRH mRNA levels in STZ rats. Since it does not affect primarily functional GHRH-R levels, the initial diminution of circulating IGF-I levels could result from a decreased GHRH-R stimulation by GHRH. Thus, the effect of glucotoxicity would be related to a decrease of functional GHRH-R protein, as observed in rats 60 days post-STZ and in cultured pituitary cells from healthy rats exposed to a high-glucose environment. insulin-like growth factor I; oxidative stress; hypothalamus; cyclic adenosine monophosphate

Published
2008

16. Genomic databases and international collaboration.

Author

Knoppers, Bartha Maria, Abdul-Rahman, Ma'N H., and Bedard, Karine

Subjects
Genetic research -- Laws, regulations and rules, Databases -- Access control, Research ethics -- Standards, CD-ROM catalog, CD-ROM database, Database, Government regulation
Published
2007

17. The genetic analysis of a founder Northern American population of European descent identifiesFANCIas a candidate familial ovarian cancer risk gene

Author

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

Published
2020
Full Text
View/download PDF

18. The Canadian Partnership for Tomorrow Project: building a pan-Canadian research platform for disease prevention

Author

Borugian, Marilyn J., Robson, Paula, Fortier, Isabel, Parker, Louise, McLaughlin, John, Knoppers, Bartha Maria, Bedard, Karine, Gallagher, Richard P., Sinclair, Sandra, Ferretti, Vincent, Whelan, Heather, Hoskin, David, and Potter, John D.

Subjects
Market trend/market analysis, Technology application, Medicine, Preventive -- Technology application -- Forecasts and trends -- Methods, Preventive health services -- Technology application -- Forecasts and trends -- Methods, Medical screening -- Technology application -- Methods -- Forecasts and trends
Abstract

As the proportion of the population over age 65 increases in Western countries, the burden of cancer (1) and other chronic diseases is also increasing. If advances in preventing these [...]

Published
2010
Full Text
View/download PDF

20. Practice guidelines for BRCA1/2tumour testing in ovarian cancer

Author

Grafodatskaya, Daria, O’Rielly, Darren D, Bedard, Karine, Butcher, Darci T, Howlett, Christopher J, Lytwyn, Alice, McCready, Elizabeth, Parboosingh, Jillian, Spriggs, Elizabeth L, Vaags, Andrea K, and Stockley, Tracy L

Abstract

The purpose of this document is to provide pre-analytical, analytical and post-analytical considerations and recommendations to Canadian clinical laboratories developing, validating and offering next-generation sequencing (NGS)-based BRCA1and BRCA2(BRCA1/2) tumour testing in ovarian cancers. This document was drafted by the members of the Canadian College of Medical Geneticists (CCMG) somatic BRCA Ad Hoc Working Group, and representatives from the Canadian Association of Pathologists. The document was circulated to the CCMG members for comment. Following incorporation of feedback, this document has been approved by the CCMG board of directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. The current CCMG Practice Guidelines were developed as a resource for clinical laboratories in Canada; however, they are not inclusive of all information laboratories should consider in the validation and use of NGS for BRCA1/2tumour testing in ovarian cancers.

Published
2022
Full Text
View/download PDF

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

Author

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

Subjects
BRCA2 Protein, Male, Ovarian Neoplasms, Canada, Cancer-predisposing gene, BRCA1 Protein, Whole exome sequencing, DNA repair, Breast Neoplasms, Fanconi Anemia Complementation Group Proteins, 3. Good health, Hereditary cancer, Tissue microarray, Familial aggregation of cancer, Ovarian cancer, Fanconi anaemia pathway, FANCI, Protein expression, Humans, Female, Genetic Predisposition to Disease
Abstract

BACKGROUND: Familial ovarian cancer (OC) cases not harbouring pathogenic variants in either of the BRCA1 and BRCA2 OC-predisposing genes, which function in homologous recombination (HR) of DNA, could involve pathogenic variants in other DNA repair pathway genes. METHODS: Whole exome sequencing was used to identify rare variants in HR genes in a BRCA1 and BRCA2 pathogenic variant negative OC family of French Canadian (FC) ancestry, a population exhibiting genetic drift. OC cases and cancer-free individuals from FC and non-FC populations were investigated for carrier frequency of FANCI c.1813C>T; p.L605F, the top-ranking candidate. Gene and protein expression were investigated in cancer cell lines and tissue microarrays, respectively. RESULTS: In FC subjects, c.1813C>T was more common in familial (7.1%, 3/42) than sporadic (1.6%, 7/439) OC cases (P = 0.048). Carriers were detected in 2.5% (74/2950) of cancer-free females though female/male carriers were more likely to have a first-degree relative with OC (121/5249, 2.3%; Spearman correlation = 0.037; P = 0.011), suggesting a role in risk. Many of the cancer-free females had host factors known to reduce risk to OC which could influence cancer risk in this population. There was an increased carrier frequency of FANCI c.1813C>T in BRCA1 and BRCA2 pathogenic variant negative OC families, when including the discovery family, compared to cancer-free females (3/23, 13%; OR = 5.8; 95%CI = 1.7-19; P = 0.005). In non-FC subjects, 10 candidate FANCI variants were identified in 4.1% (21/516) of Australian OC cases negative for pathogenic variants in BRCA1 and BRCA2, including 10 carriers of FANCI c.1813C>T. Candidate variants were significantly more common in familial OC than in sporadic OC (P = 0.04). Localization of FANCD2, part of the FANCI-FANCD2 (ID2) binding complex in the Fanconi anaemia (FA) pathway, to sites of induced DNA damage was severely impeded in cells expressing the p.L605F isoform. This isoform was expressed at a reduced level, destabilized by DNA damaging agent treatment in both HeLa and OC cell lines, and exhibited sensitivity to cisplatin but not to a poly (ADP-ribose) polymerase inhibitor. By tissue microarray analyses, FANCI protein was consistently expressed in fallopian tube epithelial cells and only expressed at low-to-moderate levels in 88% (83/94) of OC samples. CONCLUSIONS: This is the first study to describe candidate OC variants in FANCI, a member of the ID2 complex of the FA DNA repair pathway. Our data suggest that pathogenic FANCI variants may modify OC risk in cancer families.

Catalog

Books, media, physical & digital resources
See catalog results