Publications by authors named "Michael T Parsons"

44Publications

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.

Front Genet 2020 27;11:798. Epub 2020 Jul 27.

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

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3389/fgene.2020.00798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7398121PMC
July 2020

Considerations in assessing germline variant pathogenicity using cosegregation analysis.

Genet Med 2020 Aug 10. Epub 2020 Aug 10.

University of Utah, Salt Lake City, UT, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0920-4DOI Listing
August 2020

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants.

Authors:
Daniel R Barnes Matti A Rookus Lesley McGuffog Goska Leslie Thea M Mooij Joe Dennis Nasim Mavaddat Julian Adlard Munaza Ahmed Kristiina Aittomäki Nadine Andrieu Irene L Andrulis Norbert Arnold Banu K Arun Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel Barrowdale Javier Benitez Pascaline Berthet Katarzyna Białkowska Amie M Blanco Marinus J Blok Bernardo Bonanni Susanne E Boonen Åke Borg Aniko Bozsik Angela R Bradbury Paul Brennan Carole Brewer Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Lise Lotte Christensen Wendy K Chung Kathleen B M Claes Chrystelle Colas Marie-Agnès Collonge-Rame Jackie Cook Mary B Daly Rosemarie Davidson Miguel de la Hoya Robin de Putter Capucine Delnatte Peter Devilee Orland Diez Yuan Chun Ding Susan M Domchek Cecilia M Dorfling Martine Dumont Ros Eeles Bent Ejlertsen Christoph Engel D Gareth Evans Laurence Faivre Lenka Foretova Florentia Fostira Michael Friedlander Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Andrea Gehrig Anne-Marie Gerdes Paul Gesta Sophie Giraud Gord Glendon Andrew K Godwin David E Goldgar Anna González-Neira Mark H Greene Daphne Gschwantler-Kaulich Eric Hahnen Ute Hamann Helen Hanson Julia Hentschel Frans B L Hogervorst Maartje J Hooning Judit Horvath Chunling Hu Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul A James Ramunas Janavicius Esther M John Vijai Joseph Beth Y Karlan Karin Kast Marco Koudijs Torben A Kruse Ava Kwong Yael Laitman Christine Lasset Conxi Lazaro Jenny Lester Fabienne Lesueur Annelie Liljegren Jennifer T Loud Jan Lubiński Phuong L Mai Siranoush Manoukian Véronique Mari Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Austin Miller Marco Montagna Emmanuelle Mouret-Fourme Semanti Mukherjee Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Finn Cilius Nielsen Liene Nikitina-Zake Catherine Noguès Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Aoife O'Shaughnessy-Kirwan Ana Osorio Claus-Eric Ott Laura Papi Sue K Park Michael T Parsons Inge Sokilde Pedersen Bernard Peissel Ana Peixoto Paolo Peterlongo Georg Pfeiler Kelly-Anne Phillips Karolina Prajzendanc Miquel Angel Pujana Paolo Radice Juliane Ramser Susan J Ramus Johanna Rantala Gad Rennert Harvey A Risch Mark Robson Karina Rønlund Ritu Salani Hélène Schuster Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Christian F Singer Thomas P Slavin Penny Soucy Melissa C Southey Amanda B Spurdle Doris Steinemann Zoe Steinsnyder Dominique Stoppa-Lyonnet Christian Sutter Yen Yen Tan Manuel R Teixeira Soo Hwang Teo Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda E Toland Alison H Trainer Nadine Tung Klaartje van Engelen Elizabeth J van Rensburg Ana Vega Jeroen Vierstraete Gabriel Wagner Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Siddhartha Yadav Xin Yang Drakoulis Yannoukakos Dario Zimbalatti Kenneth Offit Mads Thomassen Fergus J Couch Rita K Schmutzler Jacques Simard Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou

Genet Med 2020 Jul 15. Epub 2020 Jul 15.

Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41436-020-0862-xDOI Listing
July 2020

Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants: Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA).

Authors:
Valentina Silvestri Goska Leslie Daniel R Barnes Bjarni A Agnarsson Kristiina Aittomäki Elisa Alducci Irene L Andrulis Rosa B Barkardottir Alicia Barroso Daniel Barrowdale Javier Benitez Bernardo Bonanni Ake Borg Saundra S Buys Trinidad Caldés Maria A Caligo Carlo Capalbo Ian Campbell Wendy K Chung Kathleen B M Claes Sarah V Colonna Laura Cortesi Fergus J Couch Miguel de la Hoya Orland Diez Yuan Chun Ding Susan Domchek Douglas F Easton Bent Ejlertsen Christoph Engel D Gareth Evans Lidia Feliubadalò Lenka Foretova Florentia Fostira Lajos Géczi Anne-Marie Gerdes Gord Glendon Andrew K Godwin David E Goldgar Eric Hahnen Frans B L Hogervorst John L Hopper Peter J Hulick Claudine Isaacs Angel Izquierdo Paul A James Ramunas Janavicius Uffe Birk Jensen Esther M John Vijai Joseph Irene Konstantopoulou Allison W Kurian Ava Kwong Elisabetta Landucci Fabienne Lesueur Jennifer T Loud Eva Machackova Phuong L Mai Keivan Majidzadeh-A Siranoush Manoukian Marco Montagna Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Heli Nevanlinna Joanne Ngeow Yuen Ye Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Ana Osorio Laura Papi Sue K Park Inge Sokilde Pedersen Pedro Perez-Segura Annabeth H Petersen Pedro Pinto Berardino Porfirio Miquel Angel Pujana Paolo Radice Johanna Rantala Muhammad U Rashid Barak Rosenzweig Maria Rossing Marta Santamariña Rita K Schmutzler Leigha Senter Jacques Simard Christian F Singer Angela R Solano Melissa C Southey Linda Steele Zoe Steinsnyder Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Soo H Teo Mary Beth Terry Mads Thomassen Amanda E Toland Sara Torres-Esquius Nadine Tung Christi J van Asperen Ana Vega Alessandra Viel Jeroen Vierstraete Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Sook-Yee Yoon Kristin K Zorn Lesley McGuffog Michael T Parsons Ute Hamann Mark H Greene Judy A Kirk Susan L Neuhausen Timothy R Rebbeck Marc Tischkowitz Georgia Chenevix-Trench Antonis C Antoniou Eitan Friedman Laura Ottini

JAMA Oncol 2020 Aug;6(8):1218-1230

Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1001/jamaoncol.2020.2134DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7333177PMC
August 2020

Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses.

Authors:
Haoyu Zhang Thomas U Ahearn Julie Lecarpentier Daniel Barnes Jonathan Beesley Guanghao Qi Xia Jiang Tracy A O'Mara Ni Zhao Manjeet K Bolla Alison M Dunning Joe Dennis Qin Wang Zumuruda Abu Ful Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Kristan J Aronson Banu K Arun Paul L Auer Jacopo Azzollini Daniel Barrowdale Heiko Becher Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Bialkowska Ana Blanco Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Davide Bondavalli Ake Borg Hiltrud Brauch Hermann Brenner Ignacio Briceno Annegien Broeks Sara Y Brucker Thomas Brüning Barbara Burwinkel Saundra S Buys Helen Byers Trinidad Caldés Maria A Caligo Mariarosaria Calvello Daniele Campa Jose E Castelao Jenny Chang-Claude Stephen J Chanock Melissa Christiaens Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Sten Cornelissen Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Peter Devilee Orland Diez Susan M Domchek Thilo Dörk Miriam Dwek Diana M Eccles Arif B Ekici D Gareth Evans Peter A Fasching Jonine Figueroa Lenka Foretova Florentia Fostira Eitan Friedman Debra Frost Manuela Gago-Dominguez Susan M Gapstur Judy Garber José A García-Sáenz Mia M Gaudet Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Lothar Häberle Eric Hahnen Christopher A Haiman Christopher R Hake Per Hall Ute Hamann Elaine F Harkness Bernadette A M Heemskerk-Gerritsen Peter Hillemanns Frans B L Hogervorst Bernd Holleczek Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Anthony Howell Hanna Huebner Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Agnes Jager Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Wolfgang Janni Esther M John Michael E Jones Audrey Jung Rudolf Kaaks Pooja Middha Kapoor Beth Y Karlan Renske Keeman Sofia Khan Elza Khusnutdinova Cari M Kitahara Yon-Dschun Ko Irene Konstantopoulou Linetta B Koppert Stella Koutros Vessela N Kristensen Anne-Vibeke Laenkholm Diether Lambrechts Susanna C Larsson Pierre Laurent-Puig Conxi Lazaro Emilija Lazarova Flavio Lejbkowicz Goska Leslie Fabienne Lesueur Annika Lindblom Jolanta Lissowska Wing-Yee Lo Jennifer T Loud Jan Lubinski Alicja Lukomska Robert J MacInnis Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin Maria Elena Martinez Laura Matricardi Lesley McGuffog Catriona McLean Noura Mebirouk Alfons Meindl Usha Menon Austin Miller Elvira Mingazheva Marco Montagna Anna Marie Mulligan Claire Mulot Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Patrick Neven William G Newman Finn C Nielsen Liene Nikitina-Zake Jesse Nodora Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Nick Orr Laura Papi Janos Papp Tjoung-Won Park-Simon Michael T Parsons Bernard Peissel Ana Peixoto Beth Peshkin Paolo Peterlongo Julian Peto Kelly-Anne Phillips Marion Piedmonte Dijana Plaseska-Karanfilska Karolina Prajzendanc Ross Prentice Darya Prokofyeva Brigitte Rack Paolo Radice Susan J Ramus Johanna Rantala Muhammad U Rashid Gad Rennert Hedy S Rennert Harvey A Risch Atocha Romero Matti A Rookus Matthias Rübner Thomas Rüdiger Emmanouil Saloustros Sarah Sampson Dale P Sandler Elinor J Sawyer Maren T Scheuner Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Ben Schöttker Peter Schürmann Leigha Senter Priyanka Sharma Mark E Sherman Xiao-Ou Shu Christian F Singer Snezhana Smichkoska Penny Soucy Melissa C Southey John J Spinelli Jennifer Stone Dominique Stoppa-Lyonnet Anthony J Swerdlow Csilla I Szabo Rulla M Tamimi William J Tapper Jack A Taylor Manuel R Teixeira MaryBeth Terry Mads Thomassen Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Ian Tomlinson Diana Torres Melissa A Troester Thérèse Truong Nadine Tung Michael Untch Celine M Vachon Ans M W van den Ouweland Lizet E van der Kolk Elke M van Veen Elizabeth J vanRensburg Ana Vega Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Hans Wildiers Robert Winqvist Alicja Wolk Xiaohong R Yang Drakoulis Yannoukakos Wei Zheng Kristin K Zorn Roger L Milne Peter Kraft Jacques Simard Paul D P Pharoah Kyriaki Michailidou Antonis C Antoniou Marjanka K Schmidt Georgia Chenevix-Trench Douglas F Easton Nilanjan Chatterjee Montserrat García-Closas

Nat Genet 2020 06 18;52(6):572-581. Epub 2020 May 18.

Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (NIH), Department of Health and Human Services, Bethesda, MD, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41588-020-0609-2DOI Listing
June 2020

Transcriptome-wide association study of breast cancer risk by estrogen-receptor status.

Authors:
Helian Feng Alexander Gusev Bogdan Pasaniuc Lang Wu Jirong Long Zomoroda Abu-Full Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Paul L Auer Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Ana Blanco Carl Blomqvist Bram Boeckx Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Bernardo Bonanni Ake Borg Hiltrud Brauch Hermann Brenner Ignacio Briceno Annegien Broeks Thomas Brüning Barbara Burwinkel Qiuyin Cai Trinidad Caldés Maria A Caligo Ian Campbell Sander Canisius Daniele Campa Brian D Carter Jonathan Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Cezary Cybulski Kamila Czene Mary B Daly Miguel de la Hoya Kim De Leeneer Joe Dennis Peter Devilee Orland Diez Susan M Domchek Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Florentia Fostira Eitan Friedman Lin Fritschi Debra Frost Marike Gabrielson Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Christopher Hake Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Maartje J Hooning Robert N Hoover John L Hopper Guanmengqian Huang Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Audrey Jung Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Dominique Leroux Goska Leslie Jenny Lester Fabienne Lesueur Noralane Lindor Sara Lindström Wing-Yee Lo Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Siranoush Manoukian Sara Margolin John W M Martens Maria E Martinez Laura Matricardi Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Pooja M Kapoor Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna M Mulligan Taru A Muranen Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge S Pedersen Ana Peixoto Paolo Peterlongo Julian Peto Paul D P Pharoah Kelly-Anne Phillips Dijana Plaseska-Karanfilska Bruce Poppe Nisha Pradhan Karolina Prajzendanc Nadege Presneau Kevin Punie Katri Pylkäs Paolo Radice Johanna Rantala Muhammad Usman Rashid Gad Rennert Harvey A Risch Mark Robson Atocha Romero Emmanouil Saloustros Dale P Sandler Catarina Santos Elinor J Sawyer Marjanka K Schmidt Daniel F Schmidt Rita K Schmutzler Minouk J Schoemaker Rodney J Scott Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Anne-Bine Skytte Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Rob A E M Tollenaar Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Paula Vieiro-Balo Qin Wang Barbara Wappenschmidt Clarice R Weinberg Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Roger L Milne Douglas F Easton Georgia Chenevix-Trench Wei Zheng Peter Kraft Xia Jiang

Genet Epidemiol 2020 Jul 1;44(5):442-468. Epub 2020 Mar 1.

Program in Genetic Epidemiology and Statistical Genetics, Harvard T. H. Chan School of Public Health, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/gepi.22288DOI Listing
July 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.

View Article

Download full-text PDF

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

Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.

Authors:
Vivek L Patel Evan L Busch Tara M Friebel Angel Cronin Goska Leslie Lesley McGuffog Julian Adlard Simona Agata Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Elisa Alducci Irene L Andrulis Adalgeir Arason Norbert Arnold Grazia Artioli Brita Arver Bernd Auber Jacopo Azzollini Judith Balmaña Rosa B Barkardottir Daniel R Barnes Alicia Barroso Daniel Barrowdale Muriel Belotti Javier Benitez Brigitte Bertelsen Marinus J Blok Istvan Bodrogi Valérie Bonadona Bernardo Bonanni Davide Bondavalli Susanne E Boonen Julika Borde Ake Borg Angela R Bradbury Angela Brady Carole Brewer Joan Brunet Bruno Buecher Saundra S Buys Santiago Cabezas-Camarero Trinidad Caldés Almuth Caliebe Maria A Caligo Mariarosaria Calvello Ian G Campbell Ileana Carnevali Estela Carrasco Tsun L Chan Annie T W Chu Wendy K Chung Kathleen B M Claes Gemo Study Collaborators Embrace Collaborators Jackie Cook Laura Cortesi Fergus J Couch Mary B Daly Giuseppe Damante Esther Darder Rosemarie Davidson Miguel de la Hoya Lara Della Puppa Joe Dennis Orland Díez Yuan Chun Ding Nina Ditsch Susan M Domchek Alan Donaldson Bernd Dworniczak Douglas F Easton Diana M Eccles Rosalind A Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel D Gareth Evans Laurence Faivre Ulrike Faust Lídia Feliubadaló Lenka Foretova Florentia Fostira George Fountzilas Debra Frost Vanesa García-Barberán Pilar Garre Marion Gauthier-Villars Lajos Géczi Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Gord Glendon Andrew K Godwin David E Goldgar Mark H Greene Angelica M Gutierrez-Barrera Eric Hahnen Ute Hamann Jan Hauke Natalie Herold Frans B L Hogervorst Ellen Honisch John L Hopper Peter J Hulick KConFab Investigators Hebon Investigators Louise Izatt Agnes Jager Paul James Ramunas Janavicius Uffe Birk Jensen Thomas Dyrso Jensen Oskar Th Johannsson Esther M John Vijai Joseph Eunyoung Kang Karin Kast Johanna I Kiiski Sung-Won Kim Zisun Kim Kwang-Pil Ko Irene Konstantopoulou Gero Kramer Lotte Krogh Torben A Kruse Ava Kwong Mirjam Larsen Christine Lasset Charlotte Lautrup Conxi Lazaro Jihyoun Lee Jong Won Lee Min Hyuk Lee Johannes Lemke Fabienne Lesueur Annelie Liljegren Annika Lindblom Patricia Llovet Adria Lopez-Fernández Irene Lopez-Perolio Victor Lorca Jennifer T Loud Edmond S K Ma Phuong L Mai Siranoush Manoukian Veronique Mari Lynn Martin Laura Matricardi Noura Mebirouk Veronica Medici Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Clare Miller Denise Molina Gomes Marco Montagna Thea M Mooij Lidia Moserle Emmanuelle Mouret-Fourme Anna Marie Mulligan Katherine L Nathanson Marie Navratilova Heli Nevanlinna Dieter Niederacher Finn C Cilius Nielsen Liene Nikitina-Zake Kenneth Offit Edith Olah Olufunmilayo I Olopade Kai-Ren Ong Ana Osorio Claus-Eric Ott Domenico Palli Sue K Park Michael T Parsons Inge Sokilde Pedersen Bernard Peissel Ana Peixoto Pedro Pérez-Segura Paolo Peterlongo Annabeth Høgh Petersen Mary E Porteous Miguel Angel Pujana Paolo Radice Juliane Ramser Johanna Rantala Muhammad U Rashid Kerstin Rhiem Piera Rizzolo Mark E Robson Matti A Rookus Caroline M Rossing Kathryn J Ruddy Catarina Santos Claire Saule Rosa Scarpitta Rita K Schmutzler Hélène Schuster Leigha Senter Caroline M Seynaeve Payal D Shah Priyanka Sharma Vivian Y Shin Valentina Silvestri Jacques Simard Christian F Singer Anne-Bine Skytte Katie Snape Angela R Solano Penny Soucy Melissa C Southey Amanda B Spurdle Linda Steele Doris Steinemann Dominique Stoppa-Lyonnet Agostina Stradella Lone Sunde Christian Sutter Yen Y Tan Manuel R Teixeira Soo Hwang Teo Mads Thomassen Maria Grazia Tibiletti Marc Tischkowitz Silvia Tognazzo Amanda E Toland Stefania Tommasi Diana Torres Angela Toss Alison H Trainer Nadine Tung Christi J van Asperen Frederieke H van der Baan Lizet E van der Kolk Rob B van der Luijt Liselotte P van Hest Liliana Varesco Raymonda Varon-Mateeva Alessandra Viel Jeroen Vierstraete Roberta Villa Anna von Wachenfeldt Philipp Wagner Shan Wang-Gohrke Barbara Wappenschmidt Jeffrey N Weitzel Greet Wieme Siddhartha Yadav Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Kristin K Zorn Anthony V D'Amico Matthew L Freedman Mark M Pomerantz Georgia Chenevix-Trench Antonis C Antoniou Susan L Neuhausen Laura Ottini Henriette Roed Nielsen Timothy R Rebbeck

Cancer Res 2020 02 13;80(3):624-638. Epub 2019 Nov 13.

Harvard T.H. Chan School of Public Health, Boston, Massachusetts.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/0008-5472.CAN-19-1840DOI Listing
February 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.

View Article

Download full-text PDF

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

Publisher Correction: Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 Sep 23;10(1):4386. Epub 2019 Sep 23.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-019-12095-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6757065PMC
September 2019

Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers.

Authors:
Frank Qian Matti A Rookus Goska Leslie Harvey A Risch Mark H Greene Cora M Aalfs Muriel A Adank Julian Adlard Bjarni A Agnarsson Munaza Ahmed Kristiina Aittomäki Irene L Andrulis Norbert Arnold Banu K Arun Margreet G E M Ausems Jacopo Azzollini Daniel Barrowdale Julian Barwell Javier Benitez Katarzyna Białkowska Valérie Bonadona Julika Borde Ake Borg Angela R Bradbury Joan Brunet Saundra S Buys Trinidad Caldés Maria A Caligo Ian Campbell Jonathan Carter Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Marie-Agnès Collonge-Rame Fergus J Couch Mary B Daly Capucine Delnatte Orland Diez Susan M Domchek Cecilia M Dorfling Jacqueline Eason Douglas F Easton Ros Eeles Christoph Engel D Gareth Evans Laurence Faivre Lidia Feliubadaló Lenka Foretova Eitan Friedman Debra Frost Patricia A Ganz Judy Garber Vanesa Garcia-Barberan Andrea Gehrig Gord Glendon Andrew K Godwin Encarna B Gómez Garcia Ute Hamann Jan Hauke John L Hopper Peter J Hulick Evgeny N Imyanitov Claudine Isaacs Louise Izatt Anna Jakubowska Ramunas Janavicius Esther M John Beth Y Karlan Carolien M Kets Yael Laitman Conxi Lázaro Dominique Leroux Jenny Lester Fabienne Lesueur Jennifer T Loud Jan Lubiński Alicja Łukomska Lesley McGuffog Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Austin Miller Marco Montagna Thea M Mooij Emmanuelle Mouret-Fourme Katherine L Nathanson Bita Nehoray Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Kenneth Offit Edith Olah Kai-Ren Ong Jan C Oosterwijk Laura Ottini Michael T Parsons Paolo Peterlongo Georg Pfeiler Nisha Pradhan Paolo Radice Susan J Ramus Johanna Rantala Gad Rennert Mark Robson Gustavo C Rodriguez Ritu Salani Maren T Scheuner Rita K Schmutzler Payal D Shah Lucy E Side Jacques Simard Christian F Singer Doris Steinemann Dominique Stoppa-Lyonnet Yen Yen Tan Manuel R Teixeira Mary Beth Terry Mads Thomassen Marc Tischkowitz Silvia Tognazzo Amanda E Toland Nadine Tung Christi J van Asperen Klaartje van Engelen Elizabeth J van Rensburg Laurence Venat-Bouvet Jeroen Vierstraete Gabriel Wagner Lisa Walker Jeffrey N Weitzel Drakoulis Yannoukakos Antonis C Antoniou David E Goldgar Olufunmilayo I Olopade Georgia Chenevix-Trench Timothy R Rebbeck Dezheng Huo

Br J Cancer 2019 07 19;121(2):180-192. Epub 2019 Jun 19.

Center for Clinical Cancer Genetics, The University of Chicago, Chicago, IL, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41416-019-0492-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6738050PMC
July 2019

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.

View Article

Download full-text PDF

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

Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer.

Authors:
Manuel A Ferreira Eric R Gamazon Fares Al-Ejeh Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Adalgeir Arason Volker Arndt Kristan J Aronson Banu K Arun Ella Asseryanis Jacopo Azzollini Judith Balmaña Daniel R Barnes Daniel Barrowdale Matthias W Beckmann Sabine Behrens Javier Benitez Marina Bermisheva Katarzyna Białkowska Carl Blomqvist Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Ake Borg Hiltrud Brauch Hermann Brenner Annegien Broeks Barbara Burwinkel Trinidad Caldés Maria A Caligo Daniele Campa Ian Campbell Federico Canzian Jonathan Carter Brian D Carter Jose E Castelao Jenny Chang-Claude Stephen J Chanock Hans Christiansen Wendy K Chung Kathleen B M Claes Christine L Clarke Fergus J Couch Angela Cox Simon S Cross Kamila Czene Mary B Daly Miguel de la Hoya Joe Dennis Peter Devilee Orland Diez Thilo Dörk Alison M Dunning Miriam Dwek Diana M Eccles Bent Ejlertsen Carolina Ellberg Christoph Engel Mikael Eriksson Peter A Fasching Olivia Fletcher Henrik Flyger Eitan Friedman Debra Frost Marike Gabrielson Manuela Gago-Dominguez Patricia A Ganz Susan M Gapstur Judy Garber Montserrat García-Closas José A García-Sáenz Mia M Gaudet Graham G Giles Gord Glendon Andrew K Godwin Mark S Goldberg David E Goldgar Anna González-Neira Mark H Greene Jacek Gronwald Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Wei He Jane Heyworth Frans B L Hogervorst Antoinette Hollestelle Robert N Hoover John L Hopper Peter J Hulick Keith Humphreys Evgeny N Imyanitov Claudine Isaacs Milena Jakimovska Anna Jakubowska Paul A James Ramunas Janavicius Rachel C Jankowitz Esther M John Nichola Johnson Vijai Joseph Beth Y Karlan Elza Khusnutdinova Johanna I Kiiski Yon-Dschun Ko Michael E Jones Irene Konstantopoulou Vessela N Kristensen Yael Laitman Diether Lambrechts Conxi Lazaro Goska Leslie Jenny Lester Fabienne Lesueur Sara Lindström Jirong Long Jennifer T Loud Jan Lubiński Enes Makalic Arto Mannermaa Mehdi Manoochehri Sara Margolin Tabea Maurer Dimitrios Mavroudis Lesley McGuffog Alfons Meindl Usha Menon Kyriaki Michailidou Austin Miller Marco Montagna Fernando Moreno Lidia Moserle Anna Marie Mulligan Katherine L Nathanson Susan L Neuhausen Heli Nevanlinna Ines Nevelsteen Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Håkan Olsson Ana Osorio Janos Papp Tjoung-Won Park-Simon Michael T Parsons Inge Sokilde Pedersen Ana Peixoto Paolo Peterlongo Paul D P Pharoah Dijana Plaseska-Karanfilska Bruce Poppe Nadege Presneau Paolo Radice Johanna Rantala Gad Rennert Harvey A Risch Emmanouil Saloustros Kristin Sanden Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Priyanka Sharma Xiao-Ou Shu Jacques Simard Christian F Singer Penny Soucy Melissa C Southey John J Spinelli Amanda B Spurdle Jennifer Stone Anthony J Swerdlow William J Tapper Jack A Taylor Manuel R Teixeira Mary Beth Terry Alex Teulé Mads Thomassen Kathrin Thöne Darcy L Thull Marc Tischkowitz Amanda E Toland Diana Torres Thérèse Truong Nadine Tung Celine M Vachon Christi J van Asperen Ans M W van den Ouweland Elizabeth J van Rensburg Ana Vega Alessandra Viel Qin Wang Barbara Wappenschmidt Jeffrey N Weitzel Camilla Wendt Robert Winqvist Xiaohong R Yang Drakoulis Yannoukakos Argyrios Ziogas Peter Kraft Antonis C Antoniou Wei Zheng Douglas F Easton Roger L Milne Jonathan Beesley Georgia Chenevix-Trench

Nat Commun 2019 04 15;10(1):1741. Epub 2019 Apr 15.

Department of Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, QLD, 4006, Australia.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-018-08053-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465407PMC
April 2019

GFP-Fragment Reassembly Screens for the Functional Characterization of Variants of Uncertain Significance in Protein Interaction Domains of the BRCA1 and BRCA2 Genes.

Cancers (Basel) 2019 Jan 28;11(2). Epub 2019 Jan 28.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, 20133 Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.3390/cancers11020151DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6406614PMC
January 2019

Shared heritability and functional enrichment across six solid cancers.

Authors:
Xia Jiang Hilary K Finucane Fredrick R Schumacher Stephanie L Schmit Jonathan P Tyrer Younghun Han Kyriaki Michailidou Corina Lesseur Karoline B Kuchenbaecker Joe Dennis David V Conti Graham Casey Mia M Gaudet Jeroen R Huyghe Demetrius Albanes Melinda C Aldrich Angeline S Andrew Irene L Andrulis Hoda Anton-Culver Antonis C Antoniou Natalia N Antonenkova Susanne M Arnold Kristan J Aronson Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Jyotsna Batra Matthias W Beckmann Javier Benitez Sara Benlloch Andrew Berchuck Sonja I Berndt Heike Bickeböller Stephanie A Bien Carl Blomqvist Stefania Boccia Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Hiltrud Brauch Hermann Brenner James D Brenton Mark N Brook Joan Brunet Hans Brunnström Daniel D Buchanan Barbara Burwinkel Ralf Butzow Gabriella Cadoni Trinidad Caldés Maria A Caligo Ian Campbell Peter T Campbell Géraldine Cancel-Tassin Lisa Cannon-Albright Daniele Campa Neil Caporaso André L Carvalho Andrew T Chan Jenny Chang-Claude Stephen J Chanock Chu Chen David C Christiani Kathleen B M Claes Frank Claessens Judith Clements J Margriet Collée Marcia Cruz Correa Fergus J Couch Angela Cox Julie M Cunningham Cezary Cybulski Kamila Czene Mary B Daly Anna deFazio Peter Devilee Orland Diez Manuela Gago-Dominguez Jenny L Donovan Thilo Dörk Eric J Duell Alison M Dunning Miriam Dwek Diana M Eccles Christopher K Edlund Digna R Velez Edwards Carolina Ellberg D Gareth Evans Peter A Fasching Robert L Ferris Triantafillos Liloglou Jane C Figueiredo Olivia Fletcher Renée T Fortner Florentia Fostira Silvia Franceschi Eitan Friedman Steven J Gallinger Patricia A Ganz Judy Garber José A García-Sáenz Simon A Gayther Graham G Giles Andrew K Godwin Mark S Goldberg David E Goldgar Ellen L Goode Marc T Goodman Gary Goodman Kjell Grankvist Mark H Greene Henrik Gronberg Jacek Gronwald Pascal Guénel Niclas Håkansson Per Hall Ute Hamann Freddie C Hamdy Robert J Hamilton Jochen Hampe Aage Haugen Florian Heitz Rolando Herrero Peter Hillemanns Michael Hoffmeister Estrid Høgdall Yun-Chul Hong John L Hopper Richard Houlston Peter J Hulick David J Hunter David G Huntsman Gregory Idos Evgeny N Imyanitov Sue Ann Ingles Claudine Isaacs Anna Jakubowska Paul James Mark A Jenkins Mattias Johansson Mikael Johansson Esther M John Amit D Joshi Radka Kaneva Beth Y Karlan Linda E Kelemen Tabea Kühl Kay-Tee Khaw Elza Khusnutdinova Adam S Kibel Lambertus A Kiemeney Jeri Kim Susanne K Kjaer Julia A Knight Manolis Kogevinas Zsofia Kote-Jarai Stella Koutros Vessela N Kristensen Jolanta Kupryjanczyk Martin Lacko Stephan Lam Diether Lambrechts Maria Teresa Landi Philip Lazarus Nhu D Le Eunjung Lee Flavio Lejbkowicz Heinz-Josef Lenz Goska Leslie Davor Lessel Jenny Lester Douglas A Levine Li Li Christopher I Li Annika Lindblom Noralane M Lindor Geoffrey Liu Fotios Loupakis Jan Lubiński Lovise Maehle Christiane Maier Arto Mannermaa Loic Le Marchand Sara Margolin Taymaa May Lesley McGuffog Alfons Meindl Pooja Middha Austin Miller Roger L Milne Robert J MacInnis Francesmary Modugno Marco Montagna Victor Moreno Kirsten B Moysich Lorelei Mucci Kenneth Muir Anna Marie Mulligan Katherine L Nathanson David E Neal Andrew R Ness Susan L Neuhausen Heli Nevanlinna Polly A Newcomb Lisa F Newcomb Finn Cilius Nielsen Liene Nikitina-Zake Børge G Nordestgaard Robert L Nussbaum Kenneth Offit Edith Olah Ali Amin Al Olama Olufunmilayo I Olopade Andrew F Olshan Håkan Olsson Ana Osorio Hardev Pandha Jong Y Park Nora Pashayan Michael T Parsons Tanja Pejovic Kathryn L Penney Wilbert H M Peters Catherine M Phelan Amanda I Phipps Dijana Plaseska-Karanfilska Miranda Pring Darya Prokofyeva Paolo Radice Kari Stefansson Susan J Ramus Leon Raskin Gad Rennert Hedy S Rennert Elizabeth J van Rensburg Marjorie J Riggan Harvey A Risch Angela Risch Monique J Roobol Barry S Rosenstein Mary Anne Rossing Kim De Ruyck Emmanouil Saloustros Dale P Sandler Elinor J Sawyer Matthew B Schabath Johanna Schleutker Marjanka K Schmidt V Wendy Setiawan Hongbing Shen Erin M Siegel Weiva Sieh Christian F Singer Martha L Slattery Karina Dalsgaard Sorensen Melissa C Southey Amanda B Spurdle Janet L Stanford Victoria L Stevens Sebastian Stintzing Jennifer Stone Karin Sundfeldt Rebecca Sutphen Anthony J Swerdlow Eloiza H Tajara Catherine M Tangen Adonina Tardon Jack A Taylor M Dawn Teare Manuel R Teixeira Mary Beth Terry Kathryn L Terry Stephen N Thibodeau Mads Thomassen Line Bjørge Marc Tischkowitz Amanda E Toland Diana Torres Paul A Townsend Ruth C Travis Nadine Tung Shelley S Tworoger Cornelia M Ulrich Nawaid Usmani Celine M Vachon Els Van Nieuwenhuysen Ana Vega Miguel Elías Aguado-Barrera Qin Wang Penelope M Webb Clarice R Weinberg Stephanie Weinstein Mark C Weissler Jeffrey N Weitzel Catharine M L West Emily White Alice S Whittemore H-Erich Wichmann Fredrik Wiklund Robert Winqvist Alicja Wolk Penella Woll Michael Woods Anna H Wu Xifeng Wu Drakoulis Yannoukakos Wei Zheng Shanbeh Zienolddiny Argyrios Ziogas Kristin K Zorn Jacqueline M Lane Richa Saxena Duncan Thomas Rayjean J Hung Brenda Diergaarde James McKay Ulrike Peters Li Hsu Montserrat García-Closas Rosalind A Eeles Georgia Chenevix-Trench Paul J Brennan Christopher A Haiman Jacques Simard Douglas F Easton Stephen B Gruber Paul D P Pharoah Alkes L Price Bogdan Pasaniuc Christopher I Amos Peter Kraft Sara Lindström

Nat Commun 2019 01 25;10(1):431. Epub 2019 Jan 25.

Public Health Sciences Division, Fred Hutchinson Cancer Research Center, 1100 Fairview Ave. N., Seattle, WA, 98109-1024, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/s41467-018-08054-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6347624PMC
January 2019

Substantial evidence for the clinical significance of missense variant BRCA1 c.5309G>T p.(Gly1770Val).

Breast Cancer Res Treat 2018 Nov 13;172(2):497-503. Epub 2018 Aug 13.

Molecular Diagnostic Unit, Hereditary Cancer and Ocobell Programs, IDIBELL, Catalan Institute of Oncology, Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s10549-018-4903-yDOI Listing
November 2018

A Transcriptome-Wide Association Study Among 97,898 Women to Identify Candidate Susceptibility Genes for Epithelial Ovarian Cancer Risk.

Authors:
Yingchang Lu Alicia Beeghly-Fadiel Lang Wu Xingyi Guo Bingshan Li Joellen M Schildkraut Hae Kyung Im Yian A Chen Jennifer B Permuth Brett M Reid Jamie K Teer Kirsten B Moysich Irene L Andrulis Hoda Anton-Culver Banu K Arun Elisa V Bandera Rosa B Barkardottir Daniel R Barnes Javier Benitez Line Bjorge James Brenton Ralf Butzow Trinidad Caldes Maria A Caligo Ian Campbell Jenny Chang-Claude Kathleen B M Claes Fergus J Couch Daniel W Cramer Mary B Daly Anna deFazio Joe Dennis Orland Diez Susan M Domchek Thilo Dörk Douglas F Easton Diana M Eccles Peter A Fasching Renée T Fortner George Fountzilas Eitan Friedman Patricia A Ganz Judy Garber Graham G Giles Andrew K Godwin David E Goldgar Marc T Goodman Mark H Greene Jacek Gronwald Ute Hamann Florian Heitz Michelle A T Hildebrandt Claus K Høgdall Antoinette Hollestelle Peter J Hulick David G Huntsman Evgeny N Imyanitov Claudine Isaacs Anna Jakubowska Paul James Beth Y Karlan Linda E Kelemen Lambertus A Kiemeney Susanne K Kjaer Ava Kwong Nhu D Le Goska Leslie Fabienne Lesueur Douglas A Levine Amalia Mattiello Taymaa May Lesley McGuffog Iain A McNeish Melissa A Merritt Francesmary Modugno Marco Montagna Susan L Neuhausen Heli Nevanlinna Finn C Nielsen Liene Nikitina-Zake Robert L Nussbaum Kenneth Offit Edith Olah Olufunmilayo I Olopade Sara H Olson Håkan Olsson Ana Osorio Sue K Park Michael T Parsons Petra H M Peeters Tanja Pejovic Paolo Peterlongo Catherine M Phelan Miquel Angel Pujana Susan J Ramus Gad Rennert Harvey Risch Gustavo C Rodriguez Cristina Rodríguez-Antona Isabelle Romieu Matti A Rookus Mary Anne Rossing Iwona K Rzepecka Dale P Sandler Rita K Schmutzler Veronica W Setiawan Priyanka Sharma Weiva Sieh Jacques Simard Christian F Singer Honglin Song Melissa C Southey Amanda B Spurdle Rebecca Sutphen Anthony J Swerdlow Manuel R Teixeira Soo H Teo Mads Thomassen Marc Tischkowitz Amanda E Toland Antonia Trichopoulou Nadine Tung Shelley S Tworoger Elizabeth J van Rensburg Adriaan Vanderstichele Ana Vega Digna Velez Edwards Penelope M Webb Jeffrey N Weitzel Nicolas Wentzensen Emily White Alicja Wolk Anna H Wu Drakoulis Yannoukakos Kristin K Zorn Simon A Gayther Antonis C Antoniou Andrew Berchuck Ellen L Goode Georgia Chenevix-Trench Thomas A Sellers Paul D P Pharoah Wei Zheng Jirong Long

Cancer Res 2018 09 27;78(18):5419-5430. Epub 2018 Jul 27.

Division of Epidemiology, Department of Medicine, Vanderbilt Epidemiology Center, Vanderbilt-Ingram Cancer Center, Vanderbilt University School of Medicine, Nashville, Tennessee.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1158/0008-5472.CAN-18-0951DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6139053PMC
September 2018

The BRCA2 c.68-7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity.

Authors:
Mara Colombo Irene Lòpez-Perolio Huong D Meeks Laura Caleca Michael T Parsons Hongyan Li Giovanna De Vecchi Emma Tudini Claudia Foglia Patrizia Mondini Siranoush Manoukian Raquel Behar Encarna B Gómez Garcia Alfons Meindl Marco Montagna Dieter Niederacher Ane Y Schmidt Liliana Varesco Barbara Wappenschmidt Manjeet K Bolla Joe Dennis Kyriaki Michailidou Qin Wang Kristiina Aittomäki Irene L Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Alicia Beeghly-Fadel Javier Benitez Bram Boeckx Natalia V Bogdanova Stig E Bojesen Bernardo Bonanni Hiltrud Brauch Hermann Brenner Barbara Burwinkel Jenny Chang-Claude Don M Conroy Fergus J Couch Angela Cox Simon S Cross Kamila Czene Peter Devilee Thilo Dörk Mikael Eriksson Peter A Fasching Jonine Figueroa Olivia Fletcher Henrik Flyger Marike Gabrielson Montserrat García-Closas Graham G Giles Anna González-Neira Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Jan Hauke Antoinette Hollestelle John L Hopper Anna Jakubowska Audrey Jung Veli-Matti Kosma Diether Lambrechts Loid Le Marchand Annika Lindblom Jan Lubinski Arto Mannermaa Sara Margolin Hui Miao Roger L Milne Susan L Neuhausen Heli Nevanlinna Janet E Olson Paolo Peterlongo Julian Peto Katri Pylkäs Elinor J Sawyer Marjanka K Schmidt Rita K Schmutzler Andreas Schneeweiss Minouk J Schoemaker Mee Hoong See Melissa C Southey Anthony Swerdlow Soo H Teo Amanda E Toland Ian Tomlinson Thérèse Truong Christi J van Asperen Ans M W van den Ouweland Lizet E van der Kolk Robert Winqvist Drakoulis Yannoukakos Wei Zheng Alison M Dunning Douglas F Easton Alex Henderson Frans B L Hogervorst Louise Izatt Kenneth Offitt Lucy E Side Elizabeth J van Rensburg Study Embrace Study Hebon Lesley McGuffog Antonis C Antoniou Georgia Chenevix-Trench Amanda B Spurdle David E Goldgar Miguel de la Hoya Paolo Radice

Hum Mutat 2018 05 6;39(5):729-741. Epub 2018 Apr 6.

Unit of Molecular Bases of Genetic Risk and Genetic Testing, Department of Research, Fondazione IRCCS (Istituto di Ricovero e Cura a Carattere Scientifico) Istituto Nazionale dei Tumori (INT), Milan, Italy.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23411DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5947288PMC
May 2018

Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.

Authors:
Timothy R Rebbeck Tara M Friebel Eitan Friedman Ute Hamann Dezheng Huo Ava Kwong Edith Olah Olufunmilayo I Olopade Angela R Solano Soo-Hwang Teo Mads Thomassen Jeffrey N Weitzel T L Chan Fergus J Couch David E Goldgar Torben A Kruse Edenir Inêz Palmero Sue Kyung Park Diana Torres Elizabeth J van Rensburg Lesley McGuffog Michael T Parsons Goska Leslie Cora M Aalfs Julio Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L Andrulis Adalgeir Arason Norbert Arnold Banu K Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmaña Monica Barile Rosa B Barkardottir Daniel Barrowdale Javier Benitez Andreas Berger Raanan Berger Amie M Blanco Kathleen R Blazer Marinus J Blok Valérie Bonadona Bernardo Bonanni Angela R Bradbury Carole Brewer Bruno Buecher Saundra S Buys Trinidad Caldes Almuth Caliebe Maria A Caligo Ian Campbell Sandrine M Caputo Jocelyne Chiquette Wendy K Chung Kathleen B M Claes J Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine de Pauw Capucine Delnatte Orland Diez Yuan Chun Ding Nina Ditsch Susan M Domchek Cecilia M Dorfling Carolina Velazquez Bernd Dworniczak Jacqueline Eason Douglas F Easton Ros Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D Gareth Evans Laurence Faivre Lidia Feliubadaló Sandra Fert Ferrer Lenka Foretova Jeffrey Fowler Debra Frost Henrique C R Galvão Patricia A Ganz Judy Garber Marion Gauthier-Villars Andrea Gehrig Anne-Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K Godwin Mark H Greene Jacek Gronwald Angelica Gutierrez-Barrera Eric Hahnen Jan Hauke Alex Henderson Julia Hentschel Frans B L Hogervorst Ellen Honisch Evgeny N Imyanitov Claudine Isaacs Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Uffe Birk Jensen Esther M John Joseph Vijai Katarzyna Kaczmarek Beth Y Karlan Karin Kast KConFab Investigators Sung-Won Kim Irene Konstantopoulou Jacob Korach Yael Laitman Adriana Lasa Christine Lasset Conxi Lázaro Annette Lee Min Hyuk Lee Jenny Lester Fabienne Lesueur Annelie Liljegren Noralane M Lindor Michel Longy Jennifer T Loud Karen H Lu Jan Lubinski Eva Machackova Siranoush Manoukian Véronique Mari Cristina Martínez-Bouzas Zoltan Matrai Noura Mebirouk Hanne E J Meijers-Heijboer Alfons Meindl Arjen R Mensenkamp Ugnius Mickys Austin Miller Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Susan L Neuhausen Heli Nevanlinna Joanne Ngeow Huu Phuc Nguyen Dieter Niederacher Henriette Roed Nielsen Finn Cilius Nielsen Robert L Nussbaum Kenneth Offit Anna Öfverholm Kai-Ren Ong Ana Osorio Laura Papi Janos Papp Barbara Pasini Inge Sokilde Pedersen Ana Peixoto Nina Peruga Paolo Peterlongo Esther Pohl Nisha Pradhan Karolina Prajzendanc Fabienne Prieur Pascal Pujol Paolo Radice Susan J Ramus Johanna Rantala Muhammad Usman Rashid Kerstin Rhiem Mark Robson Gustavo C Rodriguez Mark T Rogers Vilius Rudaitis Ane Y Schmidt Rita Katharina Schmutzler Leigha Senter Payal D Shah Priyanka Sharma Lucy E Side Jacques Simard Christian F Singer Anne-Bine Skytte Thomas P Slavin Katie Snape Hagay Sobol Melissa Southey Linda Steele Doris Steinemann Grzegorz Sukiennicki Christian Sutter Csilla I Szabo Yen Y Tan Manuel R Teixeira Mary Beth Terry Alex Teulé Abigail Thomas Darcy L Thull Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Sabine Topka Alison H Trainer Nadine Tung Christi J van Asperen Annemieke H van der Hout Lizet E van der Kolk Rob B van der Luijt Mattias Van Heetvelde Liliana Varesco Raymonda Varon-Mateeva Ana Vega Cynthia Villarreal-Garza Anna von Wachenfeldt Lisa Walker Shan Wang-Gohrke Barbara Wappenschmidt Bernhard H F Weber Drakoulis Yannoukakos Sook-Yee Yoon Cristina Zanzottera Jamal Zidan Kristin K Zorn Christina G Hutten Selkirk Peter J Hulick Georgia Chenevix-Trench Amanda B Spurdle Antonis C Antoniou Katherine L Nathanson

Hum Mutat 2018 05 12;39(5):593-620. Epub 2018 Mar 12.

Department of Medicine, Abramson Cancer Center, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23406DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5903938PMC
May 2018

Refined histopathological predictors of BRCA1 and BRCA2 mutation status: a large-scale analysis of breast cancer characteristics from the BCAC, CIMBA, and ENIGMA consortia.

Authors:
Amanda B Spurdle Fergus J Couch Michael T Parsons Lesley McGuffog Daniel Barrowdale Manjeet K Bolla Qin Wang Sue Healey Rita Schmutzler Barbara Wappenschmidt Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Nina Ditsch Norbert Arnold Hansjoerg Plendl Dieter Niederacher Christian Sutter Shan Wang-Gohrke Doris Steinemann Sabine Preisler-Adams Karin Kast Raymonda Varon-Mateeva Steve Ellis Debra Frost Radka Platte Jo Perkins D Gareth Evans Louise Izatt Ros Eeles Julian Adlard Rosemarie Davidson Trevor Cole Giulietta Scuvera Siranoush Manoukian Bernardo Bonanni Frederique Mariette Stefano Fortuzzi Alessandra Viel Barbara Pasini Laura Papi Liliana Varesco Rosemary Balleine Katherine L Nathanson Susan M Domchek Kenneth Offitt Anna Jakubowska Noralane Lindor Mads Thomassen Uffe Birk Jensen Johanna Rantala Åke Borg Irene L Andrulis Alexander Miron Thomas V O Hansen Trinidad Caldes Susan L Neuhausen Amanda E Toland Heli Nevanlinna Marco Montagna Judy Garber Andrew K Godwin Ana Osorio Rachel E Factor Mary B Terry Timothy R Rebbeck Beth Y Karlan Melissa Southey Muhammad Usman Rashid Nadine Tung Paul D P Pharoah Fiona M Blows Alison M Dunning Elena Provenzano Per Hall Kamila Czene Marjanka K Schmidt Annegien Broeks Sten Cornelissen Senno Verhoef Peter A Fasching Matthias W Beckmann Arif B Ekici Dennis J Slamon Stig E Bojesen Børge G Nordestgaard Sune F Nielsen Henrik Flyger Jenny Chang-Claude Dieter Flesch-Janys Anja Rudolph Petra Seibold Kristiina Aittomäki Taru A Muranen Päivi Heikkilä Carl Blomqvist Jonine Figueroa Stephen J Chanock Louise Brinton Jolanta Lissowska Janet E Olson Vernon S Pankratz Esther M John Alice S Whittemore Dee W West Ute Hamann Diana Torres Hans Ulrich Ulmer Thomas Rüdiger Peter Devilee Robert A E M Tollenaar Caroline Seynaeve Christi J Van Asperen Diana M Eccles William J Tapper Lorraine Durcan Louise Jones Julian Peto Isabel dos-Santos-Silva Olivia Fletcher Nichola Johnson Miriam Dwek Ruth Swann Anita L Bane Gord Glendon Anna M Mulligan Graham G Giles Roger L Milne Laura Baglietto Catriona McLean Jane Carpenter Christine Clarke Rodney Scott Hiltrud Brauch Thomas Brüning Yon-Dschun Ko Angela Cox Simon S Cross Malcolm W R Reed Jan Lubinski Katarzyna Jaworska-Bieniek Katarzyna Durda Jacek Gronwald Thilo Dörk Natalia Bogdanova Tjoung-Won Park-Simon Peter Hillemanns Christopher A Haiman Brian E Henderson Fredrick Schumacher Loic Le Marchand Barbara Burwinkel Frederik Marme Harald Surovy Rongxi Yang Hoda Anton-Culver Argyrios Ziogas Maartje J Hooning J Margriet Collée John W M Martens Madeleine M A Tilanus-Linthorst Hermann Brenner Aida Karina Dieffenbach Volke Arndt Christa Stegmaier Robert Winqvist Katri Pylkäs Arja Jukkola-Vuorinen Mervi Grip Annika Lindblom Sara Margolin Vijai Joseph Mark Robson Rohini Rau-Murthy Anna González-Neira José Ignacio Arias Pilar Zamora Javier Benítez Arto Mannermaa Vesa Kataja Veli-Matti Kosma Jaana M Hartikainen Paolo Peterlongo Daniela Zaffaroni Monica Barile Fabio Capra Paolo Radice Soo H Teo Douglas F Easton Antonis C Antoniou Georgia Chenevix-Trench David E Goldgar

Breast Cancer Res 2014 Dec 23;16(6):3419. Epub 2014 Dec 23.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1186/s13058-014-0474-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4352262PMC
December 2014

Tumor mismatch repair immunohistochemistry and DNA MLH1 methylation testing of patients with endometrial cancer diagnosed at age younger than 60 years optimizes triage for population-level germline mismatch repair gene mutation testing.

J Clin Oncol 2014 Jan 9;32(2):90-100. Epub 2013 Dec 9.

Daniel D. Buchanan, Yen Y. Tan, Michael D. Walsh, Mark Clendenning, Alexander M. Metcalf, Kaltin Ferguson, Sven T. Arnold, Bryony A. Thompson, Felicity A. Lose, Michael T. Parsons, Rhiannon J. Walters, Sally-Ann Pearson, Joanne P. Young, Penelope M. Webb, and Amanda B. Spurdle, QIMR Berghofer Medical Research Institute, Herston; Yen Y. Tan and Andreas Obermair, University of Queensland School of Medicine, Brisbane; Margaret Cummings, University of Queensland Centre for Clinical Research, Herston, Queensland; Martin K. Oehler, Royal Adelaide Hospital, Adelaide, South Australia; Michael A. Quinn, Royal Women's Hospital, Melbourne, Victoria; Judy A. Kirk, Westmead Institute for Cancer Research, Westmead Millennium Institute, University of Sydney, Sydney, New South Wales; Colin J. Stewart, King Edward Memorial Hospital, Perth, Western Australia, Australia; and Penelope B. Blomfield, Royal Hobart Hospital, Hobart, Tasmania.

View Article

Download full-text PDF

Source
http://jco.ascopubs.org/content/early/2013/12/09/JCO.2013.51
Web Search
http://jco.ascopubs.org/cgi/doi/10.1200/JCO.2013.51.2129
Publisher Site
http://dx.doi.org/10.1200/JCO.2013.51.2129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4876359PMC
January 2014

Assessment of the alveolar-arterial oxygen gradient as a screening test for pulmonary embolism in pregnancy.

Am J Obstet Gynecol 2010 Oct 15;203(4):373.e1-4. Epub 2010 Jun 15.

Division of Maternal-Fetal Medicine, Department of Obstetrics and Gynecology, University of South Florida College of Medicine, Tampa, FL 33606, USA.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajog.2010.04.049DOI Listing
October 2010