François Plourde
McGill University
6 Papers
36 Citations
François Plourde is an academic researcher from McGill University. The author has contributed to research in topics: Germline mutation & Mutation. The author has an hindex of 4, co-authored 5 publications. Previous affiliations of François Plourde include Jewish General Hospital.
Chat about Author
Papers
Germline and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Leora Witkowski,Jian Carrot-Zhang,Steffen Albrecht,Somayyeh Fahiminiya,Nancy Hamel,Eva Tomiak,David Grynspan,Emmanouil Saloustros,Javad Nadaf,Barbara Rivera,Catherine Gilpin,Ester Castellsagué,Rachel Silva-Smith,François Plourde,Mona Wu,Avi Saskin,Madeleine Arseneault,Rouzan G. Karabakhtsian,Elizabeth A. Reilly,Frederick R. Ueland,Anna Margiolaki,Kitty Pavlakis,Sharon M. Castellino,Janez Lamovec,Helen J. Mackay,Lawrence M. Roth,Thomas M. Ulbright,Tracey A Bender,Vassilis Georgoulias,Michel Longy,Andrew Berchuck,Marc Tischkowitz,Inga Nagel,Reiner Siebert,Colin J.R. Stewart,Jocelyne Arseneau,W Glenn McCluggage,Blaise A. Clarke,Yasser Riazalhosseini,Martin Hasselblatt,Jacek Majewski,William D. Foulkes +41 more
TL;DR: Findings identify alterations in SMARCA4 as the major cause of SCCOHT, which could lead to improvements in genetic counseling and new treatment approaches, and at least one germline or somatic deleterious SMarCA4 mutation in 30 of 32 cases.
456
Germ-line deletion in DICER1 revealed by a novel MLPA assay using synthetic oligonucleotides.
Nelly Sabbaghian,Nelly Sabbaghian,Archana Srivastava,Archana Srivastava,Nancy Hamel,Nancy Hamel,François Plourde,François Plourde,Malgorzata Gajtko-Metera,Marek Niedziela,William D. Foulkes,William D. Foulkes,William D. Foulkes +12 more
TL;DR: A heterozygous germ-line deletion of approximately 3 kilobases is identified that eliminates exon 21 of DICER1 and two-thirds of intron 21, accompanied by an insertion of a G nucleotide at the 3′ end of the deletion (c.3270-6_4051-1280delinsG).
Germ-line and somatic DICER1 mutations in a pleuropulmonary blastoma
Leanne de Kock,François Plourde,Melissa T. Carter,Nancy Hamel,Archana Srivastava,M. Stephen Meyn,Jocelyne Arseneau,Dorothée Bouron-Dal Soglio,William D. Foulkes +8 more
TL;DR: The phenotypically normal presentation of obligate carriers in families in which a germ-line DICER1mutation is segregating suggests a second somatic “hit” is necessary to initiate tumor development, strongly suggestive of a key mutational event capable of initiating tumorigenesis.
35
Abstract LB-89: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type
Leora Witkowski,Jian Carrot-Zhang,Steffen Albrecht,Nancy Hamel,Eva Tomiak,David Grynspan,Emmanouil Saloustros,Catherine Gilpin,Rachel Silva-Smith,François Plourde,Barbara Rivera,Ester Castellsagué,Mona Wu,Somayyeh Fahiminiya,Javad Nadaf,Avi Saskin,Madeleine Arseneault,Rouzan G. Karabakhtsian,Elizabeth A. Reilly,Frederick R. Ueland,Anna Margiolaki,Kitty Pavlakis,Sharon M. Castellino,Janez Lamovec,Lawrence M. Roth,Thomas M. Ulbright,Tracey A Bender,Michel Longy,Andrew Berchuck,Marc Tischkowitz,Reiner Siebert,Inga Nagel,Vassilis Georgoulias,Colin J.R. Stewart,Glenn McCluggage,Jocelyne Arseneau,Blaise A. Clarke,Yasser Riazalhosseini,Martin Hasselblatt,Jacek Majewski,William D. Foulkes +40 more
TL;DR: Germ-line and somatic SMARCA4 mutations characterize small cell carcinoma of the ovary, hypercalcemic type and could pave the way for genetic counseling and new treatment approaches.
1
Increased intracranial pressure in a patient with Congenital Heart Defect and Ectodermal Dysplasia (CHDED): Extension of phenotype and review of literature
Fahad A Alghaith,Heleen H. Arts,François Plourde,Andrew Boswall,Partima Gulati,P. Daniel McNeely,Philip D Acott,Kenny K. Wong,Sarah Dyack +8 more
TL;DR: In this article , the authors describe a patient with a de novo variant of PRKD1 with phenotypic features consistent with CHDED, including high intracranial pressure (ICP), partial anomalous pulmonary venous return (PAPVR), and bifid uvula.