Publications by authors named "William Foulkes"

100Publications

The Value of DICER1 Mutation Analysis in "Subtle" Diagnostically Challenging Embryonal Rhabdomyosarcomas of the Uterine Cervix.

Int J Gynecol Pathol 2020 Oct 5. Epub 2020 Oct 5.

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania (J.-Y.Y.) Department of Human Genetics, McGill University (M.A.-R., A.-L.C., W.D.F.) Research Institute of the McGill University Health Centre (W.D.F.) Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (M.A.R., A.-L.C., W.D.F.), Montréal, Québec Department of Pathology, Toronto General Hospital, Toronto, Ontario (B.A.C.), Canada Australian Clinical Laboratories, Subiaco (Z.S.) Western Australian Gynaecology and Surgery (S.G.S.) School for Women's and Infants' Health, University of Western Australia (C.J.R.S.), Perth, Western Australia, Australia Department of Pathology, Belfast Health and Social Care Trust, Belfast, UK (W.G.M.).

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http://dx.doi.org/10.1097/PGP.0000000000000718DOI Listing
October 2020

Breastfeeding and the risk of epithelial ovarian cancer among women with a BRCA1 or BRCA2 mutation.

Gynecol Oncol 2020 Sep 30. Epub 2020 Sep 30.

Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2020.09.037DOI Listing
September 2020

Olaparib for Metastatic Castration-Resistant Prostate Cancer.

N Engl J Med 2020 08;383(9):890

Icahn School of Medicine at Mount Sinai, New York, NY.

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http://dx.doi.org/10.1056/NEJMc2023199DOI Listing
August 2020

Evaluation of molecular analysis in challenging ovarian sex cord-stromal tumours: a review of 50 cases.

Pathology 2020 Oct 9;52(6):686-693. Epub 2020 Aug 9.

Department of Human Genetics, McGill University, Montréal, QC, Canada; Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, QC, Canada; Research Institute of the McGill University Health Centre, Montréal, QC, Canada.

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http://dx.doi.org/10.1016/j.pathol.2020.06.008DOI Listing
October 2020

Bilateral Tumors - Inherited or Acquired?

N Engl J Med 2020 Jul;383(3):280-282

From the Department of Human Genetics and the Research Institute of the McGill University Health Centre and Lady Davis Institute, McGill University, Montreal (W.D.F.); and the Department of Oncological Sciences, Icahn School of Medicine at Mount Sinai Hospital, New York (P.P.).

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http://dx.doi.org/10.1056/NEJMcibr2007784DOI Listing
July 2020

DICER1-associated sarcomas: towards a unified nomenclature.

Mod Pathol 2020 Jun 22. Epub 2020 Jun 22.

Department of Human Genetics, McGill University, Montréal, QC, Canada.

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http://dx.doi.org/10.1038/s41379-020-0602-4DOI Listing
June 2020

A child with neuroblastoma and metachronous anaplastic sarcoma of the kidney: Underlying DICER1 syndrome?

Pediatr Blood Cancer 2020 Jun 22:e28488. Epub 2020 Jun 22.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/pbc.28488DOI Listing
June 2020

Cognitive markers of dementia risk in middle-aged women with bilateral salpingo-oophorectomy prior to menopause.

Neurobiol Aging 2020 Oct 29;94:1-6. Epub 2020 Apr 29.

Department of Psychology, University of Toronto, Toronto, Ontario, Canada; Rotman Research Institute, Toronto, Ontario, Canada; Tema Genus, Linköping University, Linköping, Sweden.

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http://dx.doi.org/10.1016/j.neurobiolaging.2020.04.019DOI Listing
October 2020

The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.

BMC Cancer 2020 May 6;20(1):391. Epub 2020 May 6.

Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montréal, QC, Canada.

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http://dx.doi.org/10.1186/s12885-020-06917-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7203887PMC
May 2020

Somatic tumour testing establishes that bilateral DICER1-associated ovarian Sertoli-Leydig cell tumours represent independent primary neoplasms.

Histopathology 2020 Apr 24. Epub 2020 Apr 24.

Department of Human Genetics, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1111/his.14123DOI Listing
April 2020

Cancer Immunoprevention: A Case Report Raising the Possibility of "Immuno-interception".

Cancer Prev Res (Phila) 2020 04;13(4):351-356

Cancer Prevention Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1158/1940-6207.CAPR-19-0528DOI Listing
April 2020

Pineoblastoma is uniquely tolerant of mutually exclusive loss of DICER1, DROSHA or DGCR8.

Acta Neuropathol 2020 06 2;139(6):1115-1118. Epub 2020 Mar 2.

Department of Human Genetics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s00401-020-02139-5DOI Listing
June 2020

Methionine Metabolism Shapes T Helper Cell Responses through Regulation of Epigenetic Reprogramming.

Cell Metab 2020 02;31(2):250-266.e9

Goodman Cancer Research Centre, McGill University, Montreal, QC H3A 1A3, Canada; Department of Physiology, McGill University, Montreal, QC H3G 1Y6, Canada; Metabolic and Nutritional Programming, Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, MI 49503, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2020.01.006DOI Listing
February 2020

Cancer genetics-one family at a time.

Authors:
William Foulkes

Clin Invest Med 2019 12 29;42(4):E7-E13. Epub 2019 Dec 29.

Departments of Human Genetics, Oncology and Medicine, McGill University, and Departments of Medical Genetics, Jewish General Hospital, and McGill University Health Centre.

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http://dx.doi.org/10.25011/cim.v42i4.33344DOI Listing
December 2019

Reclassification of a frequent African-origin variant from PMS2 to the pseudogene PMS2CL.

Hum Mutat 2020 Apr 16;41(4):749-752. Epub 2020 Jan 16.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/humu.23978DOI Listing
April 2020

Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes.

Authors:
Laura Fachal Hugues Aschard Jonathan Beesley Daniel R Barnes Jamie Allen Siddhartha Kar Karen A Pooley Joe Dennis Kyriaki Michailidou Constance Turman Penny Soucy Audrey Lemaçon Michael Lush Jonathan P Tyrer Maya Ghoussaini Mahdi Moradi Marjaneh Xia Jiang Simona Agata Kristiina Aittomäki M Rosario Alonso Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Bernd Auber Paul L Auer Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Katarzyna Białkowska Amie M Blanco Carl Blomqvist William Blot Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Ake Borg Kristin Bosse Hiltrud Brauch Hermann Brenner Ignacio Briceno Ian W Brock Angela Brooks-Wilson Thomas Brüning Barbara Burwinkel Saundra S Buys Qiuyin Cai Trinidad Caldés Maria A Caligo Nicola J Camp Ian Campbell Federico Canzian Jason S Carroll Brian D Carter Jose E Castelao Jocelyne Chiquette Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke J Margriet Collée Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Arnaud Droit Stéphane Dubois Martine Dumont Mercedes Duran Lorraine Durcan Miriam Dwek Diana M Eccles Christoph Engel Mikael Eriksson D Gareth Evans Peter A Fasching Olivia Fletcher Giuseppe Floris Henrik Flyger Lenka Foretova William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Manuela Gago-Dominguez Gaetana Gambino Patricia A Ganz Susan M Gapstur Judy Garber José A García-Sáenz Mia M Gaudet Vassilios Georgoulias Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Maria Grazia Tibiletti Mark H Greene Mervi Grip Jacek Gronwald Anne Grundy Pascal Guénel Eric Hahnen Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Jaana M Hartikainen Mikael Hartman Wei He Catherine S Healey Bernadette A M Heemskerk-Gerritsen Jane Heyworth Peter Hillemanns Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning John L Hopper Anthony Howell Guanmengqian Huang Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Agnes Jager Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Michael E Jones Arja Jukkola-Vuorinen Audrey Jung Rudolf Kaaks Daehee Kang Pooja Middha Kapoor Beth Y Karlan Renske Keeman Michael J Kerin Elza Khusnutdinova Johanna I Kiiski Judy Kirk Cari M Kitahara Yon-Dschun Ko Irene Konstantopoulou Veli-Matti Kosma Stella Koutros Katerina Kubelka-Sabit Ava Kwong Kyriacos Kyriacou Yael Laitman Diether Lambrechts Eunjung Lee Goska Leslie Jenny Lester Fabienne Lesueur Annika Lindblom Wing-Yee Lo Jirong Long Artitaya Lophatananon Jennifer T Loud Jan Lubiński Robert J MacInnis Tom Maishman Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Keitaro Matsuo Tabea Maurer Dimitrios Mavroudis Rebecca Mayes Lesley McGuffog Catriona McLean Noura Mebirouk Alfons Meindl Austin Miller Nicola Miller Marco Montagna Fernando Moreno Kenneth Muir Anna Marie Mulligan Victor M Muñoz-Garzon Taru A Muranen Steven A Narod Rami Nassir Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Patrick Neven Finn C Nielsen Liene Nikitina-Zake Aaron Norman Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Nick Orr Ana Osorio V Shane Pankratz Janos Papp Sue K Park Tjoung-Won Park-Simon Michael T Parsons James Paul Inge Sokilde Pedersen Bernard Peissel Beth Peshkin Paolo Peterlongo Julian Peto Dijana Plaseska-Karanfilska Karolina Prajzendanc Ross Prentice Nadege Presneau Darya Prokofyeva Miquel Angel Pujana Katri Pylkäs Paolo Radice Susan J Ramus Johanna Rantala Rohini Rau-Murthy Gad Rennert Harvey A Risch Mark Robson Atocha Romero Maria Rossing Emmanouil Saloustros Estela Sánchez-Herrero Dale P Sandler Marta Santamariña Christobel Saunders Elinor J Sawyer Maren T Scheuner Daniel F Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Ben Schöttker Peter Schürmann Christopher Scott Rodney J Scott Leigha Senter Caroline M Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xiao-Ou Shu Christian F Singer Thomas P Slavin Snezhana Smichkoska Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Dominique Stoppa-Lyonnet Christian Sutter Anthony J Swerdlow Rulla M Tamimi Yen Yen Tan William J Tapper Jack A Taylor Manuel R Teixeira Maria Tengström Soo Hwang Teo Mary Beth Terry Alex Teulé Mads Thomassen Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Gabriela Torres-Mejía Melissa A Troester Thérèse Truong Nadine Tung Maria Tzardi Hans-Ulrich Ulmer Celine M Vachon Christi J van Asperen Lizet E van der Kolk Elizabeth J van Rensburg Ana Vega Alessandra Viel Joseph Vijai Maartje J Vogel Qin Wang Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Hans Wildiers Robert Winqvist Alicja Wolk Anna H Wu Drakoulis Yannoukakos Yan Zhang Wei Zheng David Hunter Paul D P Pharoah Jenny Chang-Claude Montserrat García-Closas Marjanka K Schmidt Roger L Milne Vessela N Kristensen Juliet D French Stacey L Edwards Antonis C Antoniou Georgia Chenevix-Trench Jacques Simard Douglas F Easton Peter Kraft Alison M Dunning

Nat Genet 2020 01 7;52(1):56-73. Epub 2020 Jan 7.

Centre for Cancer Genetic Epidemiology, Department of Oncology, University of Cambridge, Cambridge, UK.

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http://dx.doi.org/10.1038/s41588-019-0537-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6974400PMC
January 2020

Cancer Risks Associated With Germline Pathogenic Variants: An International Study of 524 Families.

Authors:
Xin Yang Goska Leslie Alicja Doroszuk Sandra Schneider Jamie Allen Brennan Decker Alison M Dunning James Redman James Scarth Inga Plaskocinska Craig Luccarini Mitul Shah Karen Pooley Leila Dorling Andrew Lee Muriel A Adank Julian Adlard Kristiina Aittomäki Irene L Andrulis Peter Ang Julian Barwell Jonine L Bernstein Kristie Bobolis Åke Borg Carl Blomqvist Kathleen B M Claes Patrick Concannon Adeline Cuggia Julie O Culver Francesca Damiola Antoine de Pauw Orland Diez Jill S Dolinsky Susan M Domchek Christoph Engel D Gareth Evans Florentia Fostira Judy Garber Lisa Golmard Ellen L Goode Stephen B Gruber Eric Hahnen Christopher Hake Tuomas Heikkinen Judith E Hurley Ramunas Janavicius Zdenek Kleibl Petra Kleiblova Irene Konstantopoulou Anders Kvist Holly Laduca Ann S G Lee Fabienne Lesueur Eamonn R Maher Arto Mannermaa Siranoush Manoukian Rachel McFarland Wendy McKinnon Alfons Meindl Kelly Metcalfe Nur Aishah Mohd Taib Jukka Moilanen Katherine L Nathanson Susan Neuhausen Pei Sze Ng Tu Nguyen-Dumont Sarah M Nielsen Florian Obermair Kenneth Offit Olufunmilayo I Olopade Laura Ottini Judith Penkert Katri Pylkäs Paolo Radice Susan J Ramus Vilius Rudaitis Lucy Side Rachel Silva-Smith Valentina Silvestri Anne-Bine Skytte Thomas Slavin Jana Soukupova Carlo Tondini Alison H Trainer Gary Unzeitig Lydia Usha Thomas van Overeem Hansen James Whitworth Marie Wood Cheng Har Yip Sook-Yee Yoon Amal Yussuf George Zogopoulos David Goldgar John L Hopper Georgia Chenevix-Trench Paul Pharoah Sophia H L George Judith Balmaña Claude Houdayer Paul James Zaki El-Haffaf Hans Ehrencrona Marketa Janatova Paolo Peterlongo Heli Nevanlinna Rita Schmutzler Soo-Hwang Teo Mark Robson Tuya Pal Fergus Couch Jeffrey N Weitzel Aaron Elliott Melissa Southey Robert Winqvist Douglas F Easton William D Foulkes Antonis C Antoniou Marc Tischkowitz

J Clin Oncol 2020 Mar 16;38(7):674-685. Epub 2019 Dec 16.

Department of Medical Genetics, NIHR Cambridge Biomedical Research Centre, and Cancer Research UK Cambridge Centre, University of Cambridge, Cambridge, United Kingdom.

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http://dx.doi.org/10.1200/JCO.19.01907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7049229PMC
March 2020

The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.

Authors:
Gisella Figlioli Massimo Bogliolo Irene Catucci Laura Caleca Sandra Viz Lasheras Roser Pujol Johanna I Kiiski Taru A Muranen Daniel R Barnes Joe Dennis Kyriaki Michailidou Manjeet K Bolla Goska Leslie Cora M Aalfs Muriel A Adank Julian Adlard Simona Agata Karen Cadoo Bjarni A Agnarsson Thomas Ahearn Kristiina Aittomäki Christine B Ambrosone Lesley Andrews Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Banu K Arun Ella Asseryanis Bernd Auber Päivi Auvinen Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Julian Barwell Laura E Beane Freeman Charles Joly Beauparlant Matthias W Beckmann Sabine Behrens Javier Benitez Raanan Berger Marina Bermisheva Amie M Blanco Carl Blomqvist Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Ake Borg Angela F Brady Hiltrud Brauch Hermann Brenner Thomas Brüning Barbara Burwinkel Saundra S Buys Trinidad Caldés Almuth Caliebe Maria A Caligo Daniele Campa Ian G Campbell Federico Canzian Jose E Castelao Jenny Chang-Claude Stephen J Chanock Kathleen B M Claes Christine L Clarke Anita Collavoli Thomas A Conner David G Cox Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Peter Devilee Orland Diez Yuan Chun Ding Gillian S Dite Nina Ditsch Susan M Domchek Cecilia M Dorfling Isabel Dos-Santos-Silva Katarzyna Durda Miriam Dwek Diana M Eccles Arif B Ekici A Heather Eliassen Carolina Ellberg Mikael Eriksson D Gareth Evans Peter A Fasching Jonine Figueroa Henrik Flyger William D Foulkes Tara M Friebel Eitan Friedman Marike Gabrielson Pragna Gaddam Manuela Gago-Dominguez Chi Gao Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Pascal Guénel Angelica M Gutierrez-Barrera Lothar Haeberle Christopher A Haiman Niclas Håkansson Per Hall Ute Hamann Patricia A Harrington Alexander Hein Jane Heyworth Peter Hillemanns Antoinette Hollestelle John L Hopper H Dean Hosgood Anthony Howell Chunling Hu Peter J Hulick David J Hunter Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Beth Y Karlan Elza Khusnutdinova Cari M Kitahara Irene Konstantopoulou Stella Koutros Peter Kraft Diether Lambrechts Conxi Lazaro Loic Le Marchand Jenny Lester Fabienne Lesueur Jenna Lilyquist Jennifer T Loud Karen H Lu Robert N Luben Jan Lubinski Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Tabea Maurer Dimitrios Mavroudis Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Marco Montagna Katherine L Nathanson Susan L Neuhausen William G Newman Tu Nguyen-Dumont Finn Cilius Nielsen Sarah Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Andrew F Olshan Janet E Olson Håkan Olsson Ana Osorio Laura Ottini Bernard Peissel Ana Peixoto Julian Peto Dijana Plaseska-Karanfilska Timea Pocza Nadege Presneau Miquel Angel Pujana Kevin Punie Brigitte Rack Johanna Rantala Muhammad U Rashid Rohini Rau-Murthy Gad Rennert Flavio Lejbkowicz Valerie Rhenius Atocha Romero Matti A Rookus Eric A Ross Maria Rossing Vilius Rudaitis Matthias Ruebner Emmanouil Saloustros Kristin Sanden Marta Santamariña Maren T Scheuner Rita K Schmutzler Michael Schneider Christopher Scott Leigha Senter Mitul Shah Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Christof Sohn Penny Soucy Melissa C Southey John J Spinelli Linda Steele Dominique Stoppa-Lyonnet William J Tapper Manuel R Teixeira Mary Beth Terry Mads Thomassen Jennifer Thompson Darcy L Thull Marc Tischkowitz Rob A E M Tollenaar Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Elizabeth J van Rensburg Elke M van Veen Ana Vega Alessandra Viel Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Greet Wieme Alicja Wolk Xiaohong R Yang Wei Zheng Argyrios Ziogas Kristin K Zorn Alison M Dunning Michael Lush Qin Wang Lesley McGuffog Michael T Parsons Paul D P Pharoah Florentia Fostira Amanda E Toland Irene L Andrulis Susan J Ramus Anthony J Swerdlow Mark H Greene Wendy K Chung Roger L Milne Georgia Chenevix-Trench Thilo Dörk Marjanka K Schmidt Douglas F Easton Paolo Radice Eric Hahnen Antonis C Antoniou Fergus J Couch Heli Nevanlinna Jordi Surrallés Paolo Peterlongo

NPJ Breast Cancer 2019 1;5:38. Epub 2019 Nov 1.

IFOM - the FIRC Institute for Molecular Oncology, Genome Diagnostics Program, Milan, Italy.

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http://dx.doi.org/10.1038/s41523-019-0127-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6825205PMC
November 2019

Imaging of DICER1 syndrome.

Pediatr Radiol 2019 10 16;49(11):1488-1505. Epub 2019 Oct 16.

, Minneapolis, USA.

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http://dx.doi.org/10.1007/s00247-019-04429-xDOI Listing
October 2019

Interim Results from the IMPACT Study: Evidence for Prostate-specific Antigen Screening in BRCA2 Mutation Carriers.

Authors:
Elizabeth C Page Elizabeth K Bancroft Mark N Brook Melissa Assel Mona Hassan Al Battat Sarah Thomas Natalie Taylor Anthony Chamberlain Jennifer Pope Holly Ni Raghallaigh D Gareth Evans Jeanette Rothwell Lovise Maehle Eli Marie Grindedal Paul James Lyon Mascarenhas Joanne McKinley Lucy Side Tessy Thomas Christi van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Thomas Dyrsø Jensen Palle J S Osther Brian T Helfand Elena Genova Rogier A Oldenburg Cezary Cybulski Dominika Wokolorczyk Kai-Ren Ong Camilla Huber Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Jan C Oosterwijk Wendy van Zelst-Stams Jackie Cook Derek J Rosario Susan Domchek Jacquelyn Powers Saundra Buys Karen O'Toole Margreet G E M Ausems Rita K Schmutzler Kerstin Rhiem Louise Izatt Vishakha Tripathi Manuel R Teixeira Marta Cardoso William D Foulkes Armen Aprikian Heleen van Randeraad Rosemarie Davidson Mark Longmuir Mariëlle W G Ruijs Apollonia T J M Helderman van den Enden Muriel Adank Rachel Williams Lesley Andrews Declan G Murphy Dorothy Halliday Lisa Walker Annelie Liljegren Stefan Carlsson Ashraf Azzabi Irene Jobson Catherine Morton Kylie Shackleton Katie Snape Helen Hanson Marion Harris Marc Tischkowitz Amy Taylor Judy Kirk Rachel Susman Rakefet Chen-Shtoyerman Allan Spigelman Nicholas Pachter Munaza Ahmed Teresa Ramon Y Cajal Janez Zgajnar Carole Brewer Neus Gadea Angela F Brady Theo van Os David Gallagher Oskar Johannsson Alan Donaldson Julian Barwell Nicola Nicolai Eitan Friedman Elias Obeid Lynn Greenhalgh Vedang Murthy Lucia Copakova Sibel Saya John McGrath Peter Cooke Karina Rønlund Kate Richardson Alex Henderson Soo H Teo Banu Arun Karin Kast Alexander Dias Neil K Aaronson Audrey Ardern-Jones Chris H Bangma Elena Castro David Dearnaley Diana M Eccles Karen Tricker Jorunn Eyfjord Alison Falconer Christopher Foster Henrik Gronberg Freddie C Hamdy Vigdis Stefansdottir Vincent Khoo Geoffrey J Lindeman Jan Lubinski Karol Axcrona Christos Mikropoulos Anita Mitra Clare Moynihan Gadi Rennert Mohnish Suri Penny Wilson Tim Dudderidge Judith Offman Zsofia Kote-Jarai Andrew Vickers Hans Lilja Rosalind A Eeles

Eur Urol 2019 12 16;76(6):831-842. Epub 2019 Sep 16.

Oncogenetics Team, Institute of Cancer Research, London, UK; Cancer Genetics Unit and Academic Urology Unit, Royal Marsden NHS Foundation Trust, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.eururo.2019.08.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6880781PMC
December 2019

[Loss of human ICOSLG results in combined immunodeficiency].

Med Sci (Paris) 2019 Aug-Sep;35(8-9):625-628. Epub 2019 Sep 18.

Le Programme en maladies infectieuses et immunité en santé mondiale, Centre universitaire de santé McGill, Institut de recherche, 1001 Decarie, H4A3J1 Montréal, Québec, Canada. - Laboratoire d'oncologie moléculaire, Institut de recherches cliniques de Montréal, Montréal, Québec, Canada. - Département de médecine, Université McGill, Montréal, Québec, Canada. - Département de médecine, Université de Montréal, Montréal, Québec, Canada.

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http://dx.doi.org/10.1051/medsci/2019126DOI Listing
April 2020

eIF4A Inhibitors Suppress Cell-Cycle Feedback Response and Acquired Resistance to CDK4/6 Inhibition in Cancer.

Mol Cancer Ther 2019 11 8;18(11):2158-2170. Epub 2019 Aug 8.

Department of Biochemistry, The Rosalind and Morris Goodman Cancer Research Centre, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1158/1535-7163.MCT-19-0162DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132330PMC
November 2019

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome. Reply.

N Engl J Med 2019 08;381(6):587

McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1907523DOI Listing
August 2019

Ten years of DICER1 mutations: Provenance, distribution, and associated phenotypes.

Hum Mutat 2019 11 17;40(11):1939-1953. Epub 2019 Aug 17.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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https://onlinelibrary.wiley.com/doi/abs/10.1002/humu.23877
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http://dx.doi.org/10.1002/humu.23877DOI Listing
November 2019

An eHealth decision-support tool to prioritize referral practices for genetic evaluation of patients with Wilms tumor.

Int J Cancer 2020 02 30;146(4):1010-1017. Epub 2019 Jul 30.

Division of Hematology-Oncology, Montreal Children's Hospital, Department of Pediatrics, McGill University, Montreal, QC, Canada.

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http://dx.doi.org/10.1002/ijc.32561DOI Listing
February 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Authors:
Michael T Parsons Emma Tudini Hongyan Li Eric Hahnen Barbara Wappenschmidt Lidia Feliubadaló Cora M Aalfs Simona Agata Kristiina Aittomäki Elisa Alducci María Concepción Alonso-Cerezo Norbert Arnold Bernd Auber Rachel Austin Jacopo Azzollini Judith Balmaña Elena Barbieri Claus R Bartram Ana Blanco Britta Blümcke Sandra Bonache Bernardo Bonanni Åke Borg Beatrice Bortesi Joan Brunet Carla Bruzzone Karolin Bucksch Giulia Cagnoli Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Gabriele L Capone Sandrine M Caputo Ileana Carnevali Estela Carrasco Virginie Caux-Moncoutier Pietro Cavalli Giulia Cini Edward M Clarke Paola Concolino Elisa J Cops Laura Cortesi Fergus J Couch Esther Darder Miguel de la Hoya Michael Dean Irmgard Debatin Jesús Del Valle Capucine Delnatte Nicolas Derive Orland Diez Nina Ditsch Susan M Domchek Véronique Dutrannoy Diana M Eccles Hans Ehrencrona Ute Enders D Gareth Evans Chantal Farra Ulrike Faust Ute Felbor Irene Feroce Miriam Fine William D Foulkes Henrique C R Galvao Gaetana Gambino Andrea Gehrig Francesca Gensini Anne-Marie Gerdes Aldo Germani Jutta Giesecke Viviana Gismondi Carolina Gómez Encarna B Gómez Garcia Sara González Elia Grau Sabine Grill Eva Gross Aliana Guerrieri-Gonzaga Marine Guillaud-Bataille Sara Gutiérrez-Enríquez Thomas Haaf Karl Hackmann Thomas V O Hansen Marion Harris Jan Hauke Tilman Heinrich Heide Hellebrand Karen N Herold Ellen Honisch Judit Horvath Claude Houdayer Verena Hübbel Silvia Iglesias Angel Izquierdo Paul A James Linda A M Janssen Udo Jeschke Silke Kaulfuß Katharina Keupp Marion Kiechle Alexandra Kölbl Sophie Krieger Torben A Kruse Anders Kvist Fiona Lalloo Mirjam Larsen Vanessa L Lattimore Charlotte Lautrup Susanne Ledig Elena Leinert Alexandra L Lewis Joanna Lim Markus Loeffler Adrià López-Fernández Emanuela Lucci-Cordisco Nicolai Maass Siranoush Manoukian Monica Marabelli Laura Matricardi Alfons Meindl Rodrigo D Michelli Setareh Moghadasi Alejandro Moles-Fernández Marco Montagna Gemma Montalban Alvaro N Monteiro Eva Montes Luigi Mori Lidia Moserle Clemens R Müller Christoph Mundhenke Nadia Naldi Katherine L Nathanson Matilde Navarro Heli Nevanlinna Cassandra B Nichols Dieter Niederacher Henriette R Nielsen Kai-Ren Ong Nicholas Pachter Edenir I Palmero Laura Papi Inge Sokilde Pedersen Bernard Peissel Pedro Perez-Segura Katharina Pfeifer Marta Pineda Esther Pohl-Rescigno Nicola K Poplawski Berardino Porfirio Anne S Quante Juliane Ramser Rui M Reis Françoise Revillion Kerstin Rhiem Barbara Riboli Julia Ritter Daniela Rivera Paula Rofes Andreas Rump Monica Salinas Ana María Sánchez de Abajo Gunnar Schmidt Ulrike Schoenwiese Jochen Seggewiß Ares Solanes Doris Steinemann Mathias Stiller Dominique Stoppa-Lyonnet Kelly J Sullivan Rachel Susman Christian Sutter Sean V Tavtigian Soo H Teo Alex Teulé Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Eva Tornero Therese Törngren Sara Torres-Esquius Angela Toss Alison H Trainer Katherine M Tucker Christi J van Asperen Marion T van Mackelenbergh Liliana Varesco Gardenia Vargas-Parra Raymonda Varon Ana Vega Ángela Velasco Anne-Sophie Vesper Alessandra Viel Maaike P G Vreeswijk Sebastian A Wagner Anke Waha Logan C Walker Rhiannon J Walters Shan Wang-Gohrke Bernhard H F Weber Wilko Weichert Kerstin Wieland Lisa Wiesmüller Isabell Witzel Achim Wöckel Emma R Woodward Silke Zachariae Valentina Zampiga Christine Zeder-Göß Conxi Lázaro Arcangela De Nicolo Paolo Radice Christoph Engel Rita K Schmutzler David E Goldgar Amanda B Spurdle

Hum Mutat 2019 09;40(9):1557-1578

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

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http://dx.doi.org/10.1002/humu.23818DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6772163PMC
September 2019

Mesenchymal Hamartoma of the Liver and DICER1 Syndrome.

N Engl J Med 2019 05;380(19):1834-1842

From the Departments of Human Genetics (M.A.-R., M.K.W., W.D.F.), Pharmacology (D.P.), Oncology (M.R.F., W.D.F.), and Biochemistry (M.R.F.), and the Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital (M.A.-R., D.P., N.S., M.K.W., M.R.F., W.D.F.), McGill University, the Department of Pathology, Montreal Children's Hospital (V.-H.N.), the Department of Radiology (K.M.), and the Cancer Research Program, Research Institute (W.D.F.), McGill University Health Centre, and the Department of Pathology, Centre Hospitalier Universitaire Sainte-Justine (D.B.-D.S.) - all in Montreal; the Department of Pediatrics, Endocrinology Unit, Sapienza University, Rome (M.S.), and Centro Diagnostico Italiano, Milan (S.Z.) - both in Italy; the Department of Pediatrics and Adolescent Medicine, Faculty of Medicine (M.K.), and the Institute for Diagnostic and Interventional Radiology, Faculty of Medicine (J.M.), Georg-August University, Göttingen, the Department of Pediatric Surgery, St. Bernward Krankenhaus Hildesheim, Hildesheim (S.G.), and the Institute of Human Genetics, Ulm University and Ulm University Medical Center, Ulm (R.W., C.L., R.S.) - all in Germany; and Minneapolis (J.R.P.).

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http://www.nejm.org/doi/10.1056/NEJMoa1812169
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May 2019

Case 35-2018: A Woman with Back Pain and a Remote History of Breast Cancer.

N Engl J Med 2019 04;380(15):e22

Harvard Medical School, Boston, MA.

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http://dx.doi.org/10.1056/NEJMc1817336DOI Listing
April 2019

An update on the central nervous system manifestations of DICER1 syndrome.

Acta Neuropathol 2020 04 5;139(4):689-701. Epub 2019 Apr 5.

Department of Pathology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Bader 104, Boston, MA, 02115, USA.

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http://dx.doi.org/10.1007/s00401-019-01997-yDOI Listing
April 2020

SWI/SNF-Compromised Cancers Are Susceptible to Bromodomain Inhibitors.

Cancer Res 2019 05 15;79(10):2761-2774. Epub 2019 Mar 15.

Departments of Oncology and Experimental Medicine, McGill University, Lady Davis Institute and Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1158/0008-5472.CAN-18-1545DOI Listing
May 2019

Further evidence that full gene deletions of DICER1 predispose to DICER1 syndrome.

Genes Chromosomes Cancer 2019 08 28;58(8):602-604. Epub 2019 Jan 28.

Department of Human Genetics, McGill University, Montréal, Québec, Canada.

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http://dx.doi.org/10.1002/gcc.22728DOI Listing
August 2019

Expanding the morphological spectrum of ovarian microcystic stromal tumour.

Histopathology 2019 Feb 5;74(3):443-451. Epub 2018 Dec 5.

Cancer Research Program, Research Institute, McGill University Health Centre, Montreal, QC, Canada.

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http://doi.wiley.com/10.1111/his.13755
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February 2019

Ovarian small cell carcinoma in one of a pair of monozygous twins.

Fam Cancer 2019 04;18(2):161-163

Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://dx.doi.org/10.1007/s10689-018-0108-0DOI Listing
April 2019

Retrospective evaluation of a decision-support algorithm (MIPOGG) for genetic referrals for children with neuroblastic tumors.

Pediatr Blood Cancer 2018 12 16;65(12):e27390. Epub 2018 Aug 16.

Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.

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http://doi.wiley.com/10.1002/pbc.27390
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December 2018

65 YEARS OF THE DOUBLE HELIX: Endocrine tumour syndromes in children and adolescents.

Endocr Relat Cancer 2018 08;25(8):T221-T244

Department of Human GeneticsResearch Institute of the McGill University Health Centre, and Lady Davis Institute, Jewish General Hospital, McGill University, Montreal, Canada

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http://dx.doi.org/10.1530/ERC-18-0160DOI Listing
August 2018

65 YEARS OF THE DOUBLE HELIX: It's all in the DNA: understanding and managing endocrine neoplasms.

Endocr Relat Cancer 2018 08;25(8):E5-E7

Genomic Medicine InstituteLerner Research Institute and Taussig Cancer Institute, Cleveland Clinic, Cleveland, Ohio, USA.

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http://dx.doi.org/10.1530/ERC-18-0283DOI Listing
August 2018

Revisiting pleuropulmonary blastoma and atypical choroid plexus papilloma in a young child: DICER1 syndrome or not?

Pediatr Blood Cancer 2018 10 26;65(10):e27294. Epub 2018 Jun 26.

Cancer Research Program, Research Institute, McGill University Health Centre, Montreal, Canada.

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http://doi.wiley.com/10.1002/pbc.27294
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October 2018

Infantile Pulmonary Teratoid Tumor.

N Engl J Med 2018 06;378(23):2238-2240

McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1803354DOI Listing
June 2018

Age-specific ovarian cancer risks among women with a BRCA1 or BRCA2 mutation.

Gynecol Oncol 2018 07 21;150(1):85-91. Epub 2018 May 21.

Women's College Research Institute, Women's College Hospital, Toronto, ON, Canada; Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ygyno.2018.05.011DOI Listing
July 2018

Age at first full-term birth and breast cancer risk in BRCA1 and BRCA2 mutation carriers.

Breast Cancer Res Treat 2018 Sep 17;171(2):421-426. Epub 2018 May 17.

Women's College Research Institute, Women's College Hospital, 76 Grenville St., 6th Floor, Toronto, ON, M5S 1B2, Canada.

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http://link.springer.com/10.1007/s10549-018-4822-y
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September 2018

Atypical tuberous sclerosis complex presenting as familial renal cell carcinoma with leiomyomatous stroma.

J Pathol Clin Res 2018 07 13;4(3):167-174. Epub 2018 Jun 13.

Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada.

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http://doi.wiley.com/10.1002/cjp2.104
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6065116PMC
July 2018

A novel DICER1 mutation in familial multinodular goitre.

Clin Endocrinol (Oxf) 2018 07 4;89(1):110-112. Epub 2018 May 4.

Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.

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http://dx.doi.org/10.1111/cen.13613DOI Listing
July 2018

GATA2 Deficiency Due to de Novo Complete Monoallelic Deletion in an Adolescent With Myelodysplasia.

J Pediatr Hematol Oncol 2018 05;40(4):e225-e228

Department of Human Genetics, McGill University.

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http://dx.doi.org/10.1097/MPH.0000000000001136DOI Listing
May 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet G E M Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia T J M Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 03 6;118(6):e17. Epub 2018 Mar 6.

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http://dx.doi.org/10.1038/bjc.2018.11DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5877440PMC
March 2018

DICER1 Mutations Are Frequent in Adolescent-Onset Papillary Thyroid Carcinoma.

J Clin Endocrinol Metab 2018 05;103(5):2009-2015

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1210/jc.2017-02698DOI Listing
May 2018

Analysis of DICER1 in familial and sporadic cases of transposition of the great arteries.

Congenit Heart Dis 2018 May 5;13(3):401-406. Epub 2018 Feb 5.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Quebec, Canada.

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http://dx.doi.org/10.1111/chd.12578DOI Listing
May 2018

Hereditary SWI/SNF complex deficiency syndromes.

Semin Diagn Pathol 2018 May 1;35(3):193-198. Epub 2018 Feb 1.

Departments of Human Genetics, Medicine and Oncology, McGill University, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1053/j.semdp.2018.01.002DOI Listing
May 2018

Monogenic Diseases of DNA Repair.

N Engl J Med 2018 02;378(5):491

McGill University, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1716072DOI Listing
February 2018

gene mutations in endocrine tumors.

Endocr Relat Cancer 2018 03 12;25(3):R197-R208. Epub 2018 Jan 12.

Division of PathologyDepartment of Laboratory Medicine, St. Michael's Hospital, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1530/ERC-17-0509DOI Listing
March 2018

Prostate-specific antigen velocity in a prospective prostate cancer screening study of men with genetic predisposition.

Authors:
Christos Mikropoulos Christina G Hutten Selkirk Sibel Saya Elizabeth Bancroft Emily Vertosick Tokhir Dadaev Charles Brendler Elizabeth Page Alexander Dias D Gareth Evans Jeanette Rothwell Lovise Maehle Karol Axcrona Kate Richardson Diana Eccles Thomas Jensen Palle J Osther Christi J van Asperen Hans Vasen Lambertus A Kiemeney Janneke Ringelberg Cezary Cybulski Dominika Wokolorczyk Rachel Hart Wayne Glover Jimmy Lam Louise Taylor Monica Salinas Lidia Feliubadaló Rogier Oldenburg Ruben Cremers Gerald Verhaegh Wendy A van Zelst-Stams Jan C Oosterwijk Jackie Cook Derek J Rosario Saundra S Buys Tom Conner Susan Domchek Jacquelyn Powers Margreet Gem Ausems Manuel R Teixeira Sofia Maia Louise Izatt Rita Schmutzler Kerstin Rhiem William D Foulkes Talia Boshari Rosemarie Davidson Marielle Ruijs Apollonia Tjm Helderman-van den Enden Lesley Andrews Lisa Walker Katie Snape Alex Henderson Irene Jobson Geoffrey J Lindeman Annelie Liljegren Marion Harris Muriel A Adank Judy Kirk Amy Taylor Rachel Susman Rakefet Chen-Shtoyerman Nicholas Pachter Allan Spigelman Lucy Side Janez Zgajnar Josefina Mora Carole Brewer Neus Gadea Angela F Brady David Gallagher Theo van Os Alan Donaldson Vigdis Stefansdottir Julian Barwell Paul A James Declan Murphy Eitan Friedman Nicola Nicolai Lynn Greenhalgh Elias Obeid Vedang Murthy Lucia Copakova John McGrath Soo-Hwang Teo Sara Strom Karin Kast Daniel A Leongamornlert Anthony Chamberlain Jenny Pope Anna C Newlin Neil Aaronson Audrey Ardern-Jones Chris Bangma Elena Castro David Dearnaley Jorunn Eyfjord Alison Falconer Christopher S Foster Henrik Gronberg Freddie C Hamdy Oskar Johannsson Vincent Khoo Jan Lubinski Eli Marie Grindedal Joanne McKinley Kylie Shackleton Anita V Mitra Clare Moynihan Gad Rennert Mohnish Suri Karen Tricker Sue Moss Zsofia Kote-Jarai Andrew Vickers Hans Lilja Brian T Helfand Rosalind A Eeles

Br J Cancer 2018 01 4;118(2):266-276. Epub 2018 Jan 4.

The Institute of Cancer Research, 15 Cotswold Road, Sutton, Surrey SM2 5NG, UK.

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http://dx.doi.org/10.1038/bjc.2017.429DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5785754PMC
January 2018

Familial multinodular goiter and Sertoli-Leydig cell tumors associated with a large intragenic in-frame deletion.

Eur J Endocrinol 2018 Feb 29;178(2):K11-K19. Epub 2017 Nov 29.

Lady Davis Institute, Segal Cancer Centre, Jewish General Hospital, Montréal, Québec, Canada.

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http://dx.doi.org/10.1530/EJE-17-0904DOI Listing
February 2018

Paediatric ovarian tumours and their associated cancer susceptibility syndromes.

J Med Genet 2018 01 24;55(1):1-10. Epub 2017 Nov 24.

Department of Medical Genetics, McGill University Health Centre, Montreal, Quebec, Canada.

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http://dx.doi.org/10.1136/jmedgenet-2017-104926DOI Listing
January 2018

Olaparib for Metastatic Germline BRCA-Mutated Breast Cancer.

N Engl J Med 2017 11;377(18):1792

Research Institute of the McGill University Health Centre, Montreal, QC, Canada

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http://dx.doi.org/10.1056/NEJMc1711644DOI Listing
November 2017

Low yield of gastroscopy in patients with Lynch syndrome.

Turk J Gastroenterol 2017 Nov 25;28(6):434-438. Epub 2017 Oct 25.

Division of Gastroenterology, Department of Medicine, Jewish General Hospital, Québec, Canada.

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http://dx.doi.org/10.5152/tjg.2017.17176DOI Listing
November 2017

Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer.

Authors:
Roger L Milne Karoline B Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary Finucane Manjeet K Bolla Lesley McGuffog Qin Wang Cora M Aalfs Marcia Adams Julian Adlard Simona Agata Shahana Ahmed Habibul Ahsan Kristiina Aittomäki Fares Al-Ejeh Jamie Allen Christine B Ambrosone Christopher I Amos Irene L Andrulis Hoda Anton-Culver Natalia N Antonenkova Volker Arndt Norbert Arnold Kristan J Aronson Bernd Auber Paul L Auer Margreet G E M Ausems Jacopo Azzollini François Bacot Judith Balmaña Monica Barile Laure Barjhoux Rosa B Barkardottir Myrto Barrdahl Daniel Barnes Daniel Barrowdale Caroline Baynes Matthias W Beckmann Javier Benitez Marina Bermisheva Leslie Bernstein Yves-Jean Bignon Kathleen R Blazer Marinus J Blok Carl Blomqvist William Blot Kristie Bobolis Bram Boeckx Natalia V Bogdanova Anders Bojesen Stig E Bojesen Bernardo Bonanni Anne-Lise Børresen-Dale Aniko Bozsik Angela R Bradbury Judith S Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac-de Paillerets Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Joan Brunet Thomas Brüning Barbara Burwinkel Saundra S Buys Jinyoung Byun Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Federico Canzian Olivier Caron Angel Carracedo Brian D Carter J Esteban Castelao Laurent Castera Virginie Caux-Moncoutier Salina B Chan Jenny Chang-Claude Stephen J Chanock Xiaoqing Chen Ting-Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen B M Claes Christine L Clarke Thomas Conner Don M Conroy Jackie Cook Emilie Cordina-Duverger Sten Cornelissen Isabelle Coupier Angela Cox David G Cox Simon S Cross Katarina Cuk Julie M Cunningham Kamila Czene Mary B Daly Francesca Damiola Hatef Darabi Rosemarie Davidson Kim De Leeneer Peter Devilee Ed Dicks Orland Diez Yuan Chun Ding Nina Ditsch Kimberly F Doheny Susan M Domchek Cecilia M Dorfling Thilo Dörk Isabel Dos-Santos-Silva Stéphane Dubois Pierre-Antoine Dugué Martine Dumont Alison M Dunning Lorraine Durcan Miriam Dwek Bernd Dworniczak Diana Eccles Ros Eeles Hans Ehrencrona Ursula Eilber Bent Ejlertsen Arif B Ekici A Heather Eliassen Christoph Engel Mikael Eriksson Laura Fachal Laurence Faivre Peter A Fasching Ulrike Faust Jonine Figueroa Dieter Flesch-Janys Olivia Fletcher Henrik Flyger William D Foulkes Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Pragna Gaddam Marilie D Gammon Patricia A Ganz Susan M Gapstur Judy Garber Vanesa Garcia-Barberan José A García-Sáenz Mia M Gaudet Marion Gauthier-Villars Andrea Gehrig Vassilios Georgoulias Anne-Marie Gerdes Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Paul Goodfellow Mark H Greene Grethe I Grenaker Alnæs Mervi Grip Jacek Gronwald Anne Grundy Daphne Gschwantler-Kaulich Pascal Guénel Qi Guo Lothar Haeberle Eric Hahnen Christopher A Haiman Niclas Håkansson Emily Hallberg Ute Hamann Nathalie Hamel Susan Hankinson Thomas V O Hansen Patricia Harrington Steven N Hart Jaana M Hartikainen Catherine S Healey Alexander Hein Sonja Helbig Alex Henderson Jane Heyworth Belynda Hicks Peter Hillemanns Shirley Hodgson Frans B Hogervorst Antoinette Hollestelle Maartje J Hooning Bob Hoover John L Hopper Chunling Hu Guanmengqian Huang Peter J Hulick Keith Humphreys David J Hunter Evgeny N Imyanitov Claudine Isaacs Motoki Iwasaki Louise Izatt Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Uffe Birk Jensen Esther M John Nichola Johnson Kristine Jones Michael Jones Arja Jukkola-Vuorinen Rudolf Kaaks Maria Kabisch Katarzyna Kaczmarek Daehee Kang Karin Kast Renske Keeman Michael J Kerin Carolien M Kets Machteld Keupers Sofia Khan Elza Khusnutdinova Johanna I Kiiski Sung-Won Kim Julia A Knight Irene Konstantopoulou Veli-Matti Kosma Vessela N Kristensen Torben A Kruse Ava Kwong Anne-Vibeke Lænkholm Yael Laitman Fiona Lalloo Diether Lambrechts Keren Landsman Christine Lasset Conxi Lazaro Loic Le Marchand Julie Lecarpentier Andrew Lee Eunjung Lee Jong Won Lee Min Hyuk Lee Flavio Lejbkowicz Fabienne Lesueur Jingmei Li Jenna Lilyquist Anne Lincoln Annika Lindblom Jolanta Lissowska Wing-Yee Lo Sibylle Loibl Jirong Long Jennifer T Loud Jan Lubinski Craig Luccarini Michael Lush Robert J MacInnis Tom Maishman Enes Makalic Ivana Maleva Kostovska Kathleen E Malone Siranoush Manoukian JoAnn E Manson Sara Margolin John W M Martens Maria Elena Martinez Keitaro Matsuo Dimitrios Mavroudis Sylvie Mazoyer Catriona McLean Hanne Meijers-Heijboer Primitiva Menéndez Jeffery Meyer Hui Miao Austin Miller Nicola Miller Gillian Mitchell Marco Montagna Kenneth Muir Anna Marie Mulligan Claire Mulot Sue Nadesan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Dieter Niederacher Sune F Nielsen Børge G Nordestgaard Aaron Norman Robert L Nussbaum Edith Olah Olufunmilayo I Olopade Janet E Olson Curtis Olswold Kai-Ren Ong Jan C Oosterwijk Nick Orr Ana Osorio V Shane Pankratz Laura Papi Tjoung-Won Park-Simon Ylva Paulsson-Karlsson Rachel Lloyd Inge Søkilde Pedersen Bernard Peissel Ana Peixoto Jose I A Perez Paolo Peterlongo Julian Peto Georg Pfeiler Catherine M Phelan Mila Pinchev Dijana Plaseska-Karanfilska Bruce Poppe Mary E Porteous Ross Prentice Nadege Presneau Darya Prokofieva Elizabeth Pugh Miquel Angel Pujana Katri Pylkäs Brigitte Rack Paolo Radice Nazneen Rahman Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Hedy S Rennert Valerie Rhenius Kerstin Rhiem Andrea Richardson Gustavo C Rodriguez Atocha Romero Jane Romm Matti A Rookus Anja Rudolph Thomas Ruediger Emmanouil Saloustros Joyce Sanders Dale P Sandler Suleeporn Sangrajrang Elinor J Sawyer Daniel F Schmidt Minouk J Schoemaker Fredrick Schumacher Peter Schürmann Lukas Schwentner Christopher Scott Rodney J Scott Sheila Seal Leigha Senter Caroline Seynaeve Mitul Shah Priyanka Sharma Chen-Yang Shen Xin Sheng Hermela Shimelis Martha J Shrubsole Xiao-Ou Shu Lucy E Side Christian F Singer Christof Sohn Melissa C Southey John J Spinelli Amanda B Spurdle Christa Stegmaier Dominique Stoppa-Lyonnet Grzegorz Sukiennicki Harald Surowy Christian Sutter Anthony Swerdlow Csilla I Szabo Rulla M Tamimi Yen Y Tan Jack A Taylor Maria-Isabel Tejada Maria Tengström Soo H Teo Mary B Terry Daniel C Tessier Alex Teulé Kathrin Thöne Darcy L Thull Maria Grazia Tibiletti Laima Tihomirova Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Ling Tong Diana Torres Martine Tranchant Thérèse Truong Kathy Tucker Nadine Tung Jonathan Tyrer Hans-Ulrich Ulmer Celine Vachon Christi J van Asperen David Van Den Berg Ans M W van den Ouweland Elizabeth J van Rensburg Liliana Varesco Raymonda Varon-Mateeva Ana Vega Alessandra Viel Joseph Vijai Daniel Vincent Jason Vollenweider Lisa Walker Zhaoming Wang Shan Wang-Gohrke Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Jelle Wesseling Alice S Whittemore Juul T Wijnen Walter Willett Robert Winqvist Alicja Wolk Anna H Wu Lucy Xia Xiaohong R Yang Drakoulis Yannoukakos Daniela Zaffaroni Wei Zheng Bin Zhu Argyrios Ziogas Elad Ziv Kristin K Zorn Manuela Gago-Dominguez Arto Mannermaa Håkan Olsson Manuel R Teixeira Jennifer Stone Kenneth Offit Laura Ottini Sue K Park Mads Thomassen Per Hall Alfons Meindl Rita K Schmutzler Arnaud Droit Gary D Bader Paul D P Pharoah Fergus J Couch Douglas F Easton Peter Kraft Georgia Chenevix-Trench Montserrat García-Closas Marjanka K Schmidt Antonis C Antoniou Jacques Simard

Nat Genet 2017 Dec 23;49(12):1767-1778. Epub 2017 Oct 23.

Genomics Center, Centre Hospitalier Universitaire de Québec Research Center, Laval University, Québec City, Québec, Canada.

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http://dx.doi.org/10.1038/ng.3785DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5808456PMC
December 2017