Zobrazeno 1 - 10 of 211 pro vyhledávání: '"Patricia N, Tonin"'
1
Akademický článek
Genetic analyses of DNA repair pathway associated genes implicate new candidate cancer predisposing genes in ancestrally defined ovarian cancer cases
Autor: 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
Publikováno v: Frontiers in Oncology, Vol 13 (2023)
Not all familial ovarian cancer (OC) cases are explained by pathogenic germline variants in known risk genes. A candidate gene approach involving DNA repair pathway genes was applied to identify rare recurring pathogenic variants in familial OC cases
Externí odkaz: https://doaj.org/article/05d239ab593d4e42b75d51380a913fb1
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3
Akademický článek
Current gene panels account for nearly all homologous recombination repair-associated multiple-case breast cancer families
Autor: Thibaut S. Matis, Nadia Zayed, Bouchra Labraki, Manon de Ladurantaye, Théophane A. Matis, José Camacho Valenzuela, Nancy Hamel, Adrienne Atayan, Barbara Rivera, Yuval Tabach, Patricia N. Tonin, Alexandre Orthwein, Anne-Marie Mes-Masson, Zaki El Haffaf, William D. Foulkes, Paz Polak
Publikováno v: npj Breast Cancer, Vol 7, Iss 1, Pp 1-7 (2021)
Abstract It was hypothesized that variants in underexplored homologous recombination repair (HR) genes could explain unsolved multiple-case breast cancer (BC) families. We investigated HR deficiency (HRD)-associated mutational signatures and second h
Externí odkaz: https://doaj.org/article/cbb6acef8a0543f6b4e46805a7d21ec0
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4
Akademický článek
Investigating the causal role of MRE11A p.E506* in breast and ovarian cancer
Autor: Islam E. Elkholi, Massimo Di Iorio, Somayyeh Fahiminiya, Suzanna L. Arcand, HyeRim Han, Clara Nogué, Supriya Behl, Nancy Hamel, Sylvie Giroux, Manon de Ladurantaye, Olga Aleynikova, Walter H. Gotlieb, Jean-François Côté, François Rousseau, Patricia N. Tonin, Diane Provencher, Anne-Marie MesMasson, Mohammad R. Akbari, Barbara Rivera, William D. Foulkes
Publikováno v: Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract The nuclease MRE11A is often included in genetic test panels for hereditary breast and ovarian cancer (HBOC) due to its BRCA1-related molecular function in the DNA repair pathway. However, whether MRE11A is a true predisposition gene for HBO
Externí odkaz: https://doaj.org/article/64c0a0aadac845d4b26d482428971ff5
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5
Akademický článek
Characteristics and outcome of the COEUR Canadian validation cohort for ovarian cancer biomarkers
Autor: Cécile Le Page, Kurosh Rahimi, Martin Köbel, Patricia N. Tonin, Liliane Meunier, Lise Portelance, Monique Bernard, Brad H. Nelson, Marcus Q. Bernardini, John M. S. Bartlett, Dimcho Bachvarov, Walter H. Gotlieb, Blake Gilks, Jessica N. McAlpine, Mark W. Nachtigal, Alain Piché, Peter H. Watson, Barbara Vanderhyden, David G. Huntsman, Diane M. Provencher, Anne-Marie Mes-Masson
Publikováno v: BMC Cancer, Vol 18, Iss 1, Pp 1-18 (2018)
Abstract Background Ovarian carcinoma is the most lethal gynecological malignancy due to early dissemination and acquired resistance to platinum-based chemotherapy. Reliable markers that are independent and complementary to clinical parameters are ne
Externí odkaz: https://doaj.org/article/cdedc148b0a5483d9a92db4fb163269d
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6
Akademický článek
Exome Sequencing in BRCA1- and BRCA2-Negative Greek Families Identifies MDM1 and NBEAL1 as Candidate Risk Genes for Hereditary Breast Cancer
Autor: Stavros Glentis, Alexandros C. Dimopoulos, Konstantinos Rouskas, George Ntritsos, Evangelos Evangelou, Steven A. Narod, Anne-Marie Mes-Masson, William D. Foulkes, Barbara Rivera, Patricia N. Tonin, Jiannis Ragoussis, Antigone S. Dimas
Publikováno v: Frontiers in Genetics, Vol 10 (2019)
Approximately 10% of breast cancer (BC) cases are hereditary BC (HBC), with HBC most commonly encountered in the context of hereditary breast and ovarian cancer (HBOC) syndrome. Although thousands of loss-of-function (LoF) alleles in over 20 genes ha
Externí odkaz: https://doaj.org/article/8290e95b467b41bb87a8dfc6d98944ee
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