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He is best known for his work on the clinico-pathological features of hereditary breast cancer and for his discovery and characterization of cancer predisposing founder mutations in Montreal populations, including a germline pathogenic missense variant in MSH2 in the Ashkenazim and disease-causing variants in PALB2 and RAD51D in French Canadians. In collaboration with Jacek Majewski, he identified biallelic variants in SMARCA4 as the sole cause of small cell carcinoma of the ovary, hypercalcemic type. He collaborates extensively with medical professionals and researchers around the world to better understand the genetics of various cancers. For the past 10 years, with nearly fifty publications his team extensively defined the phenotypes linked to the DICER1 pleiotropic tumor predisposition syndrome and is now exploring the functional impact of inherited mutations in DICER1. Another recent research focus involves genome-wide characterization of patients with multiples primary tumors to identify the genetic predisposing factors at work in these individuals.
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Lydia Ouchene,Blake Wilde, Fiona Chan-Pak-Choon, Jose Camacho Valenzuela,Fadi Brimo,Leora Witkowski,Heather Christofk,Celine Domecq, Lili Fu,Evan Weber, Brianna Lemieux Anglin,Elena Netchiporouk,
GENES CHROMOSOMES & CANCERno. 2 (2024)
Genetics in Medicine Open (2024): 100997
Rubina Razack, Jennifer L Butt,Isabelle Hostein,Valerie Velasco,Sabrina Croce, Carel Olory, Lili Fu,William D Foulkes,W Glenn McCluggage
International journal of gynecological pathology : official journal of the International Society of Gynecological Pathologists (2024)
Carla Apostolova, Amina Ferroum, Basmah Alhassan,Ipshita Prakash,Alex Viezel-Mathieu,Mark Basik,Jean Francois Boileau,Sarkis Meterissian,Nora Wong,William D. Foulkes,Stephanie M. Wong
Annals of Surgical Oncologyno. 2 (2024): 1018-1019
Fátima Marín,Júlia Canet-Hermida,Vanessa Bianchi,Jiil Chung,Katharina Wimmer,William Foulkes, Vanesa Pérez-Alonso, Nerea Domínguez-Pinilla, Constantino Sábado, Felisa Vázquez-Gómez, Antonio Molinés, Victoria Fioravantti,
Clinical chemistry (2024)
EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 586-586
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Dylan Pelletier,Nelly Sabbaghian,Anne-Laure Chong, John R. Priest, Yomna Elsheikh Ahmed, Gabriel P. Fox,Marc R. Fabian,William D. Foulkes
Virchows Archivpp.1-5, (2024)
Carla Apostolova,Amina Ferroum,Basmah Alhassan,Ipshita Prakash,Mark Basik,Jean Francois Boileau, Karyne Martel,Sarkis Meterissian, Victor Villareal Corpuz,Nora Wong,William D. Foulkes,Stephanie M. Wong
European Journal of Surgical Oncologypp.108324, (2024)
Alexandre Lachance, Evan Dimentberg,Sidong Huang, Samuel Bergeron-Gravel,Éric Bouffet,Adriana Fonseca,Louis Crevier, Stephan Saikali, Catherine Bourget, Panagiota Giannakouros,Damien Faury,Nada Jabado,
Child's Nervous Systempp.1-5, (2024)
HISTOPATHOLOGYno. 4 (2024): 683-696
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