Publications by authors named "Ana Peixoto"

65Publications

Pathogenicity reclassification of two BRCA1/BRCA2 exonic duplications after identification of genomic breakpoints and tandem orientation.

Cancer Genet 2020 Sep 11;248-249:18-24. Epub 2020 Sep 11.

Department of Genetics, Portuguese Oncology Institute of Porto, Rua Dr. António Bernardino Almeida, Porto 4200-072, Portugal; Institute of Biomedical Sciences Abel Salazar, University of Porto, Largo Prof. Abel Salazar, Porto 4099-003, Portugal. Electronic address:

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http://dx.doi.org/10.1016/j.cancergen.2020.09.001DOI Listing
September 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.

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

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

The utility of DSM-5 indicators of loss of control eating for the bariatric surgery population.

Eur Eat Disord Rev 2020 Jul 3;28(4):423-432. Epub 2020 Apr 3.

School of Psychology, University of Minho, Braga, Portugal.

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http://dx.doi.org/10.1002/erv.2737DOI Listing
July 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.

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http://dx.doi.org/10.1002/gepi.22288DOI Listing
July 2020

Nicotinic α7 receptor-induced adenosine release from perisynaptic Schwann cells controls acetylcholine spillover from motor endplates.

J Neurochem 2020 Aug 23;154(3):263-283. Epub 2020 Feb 23.

Laboratório de Farmacologia e Neurobiologia, Centro de Investigação Farmacológica e Inovação Medicamentosa (MedInUP), ICBAS, Universidade do Porto, Porto, Portugal.

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http://dx.doi.org/10.1111/jnc.14975DOI Listing
August 2020

The Spectrum of Protein Truncating Variants in European Breast Cancer Cases.

Cancers (Basel) 2020 01 26;12(2). Epub 2020 Jan 26.

Genome Diagnostics Program, IFOM - the FIRC Institute for Molecular Oncology, Milan 20139, Italy.

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http://dx.doi.org/10.3390/cancers12020292DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7073216PMC
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.

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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.

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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

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.

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

Potential clinical applications of circulating cell-free DNA in ovarian cancer patients.

Expert Rev Mol Med 2018 12 18;20:e6. Epub 2018 Dec 18.

Cancer Genetics Group,IPO-Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO-Porto),Porto,Portugal.

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https://www.cambridge.org/core/product/identifier/S146239941
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http://dx.doi.org/10.1017/erm.2018.5DOI Listing
December 2018

Separation of Volatile Metabolites from the Leaf-Derived Essential Oil of Kunth (Piperaceae) by High-Speed Countercurrent Chromatography.

Molecules 2018 Nov 23;23(12). Epub 2018 Nov 23.

Instituto de Pesquisas de Produtos Naturais (IPPN), Universidade Federal do Rio de Janeiro (UFRJ), 21941-902 Rio de Janeiro, Brazil.

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http://dx.doi.org/10.3390/molecules23123064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6321170PMC
November 2018

Strategies to Evaluate Bilateral Cleft Lip Treatment.

J Craniofac Surg 2018 Sep;29(6):1457-1462

Martagao Gesteira Hospital, Salvador, Brazil.

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http://dx.doi.org/10.1097/SCS.0000000000004712DOI Listing
September 2018

Targeted next generation sequencing identifies functionally deleterious germline mutations in novel genes in early-onset/familial prostate cancer.

PLoS Genet 2018 04 16;14(4):e1007355. Epub 2018 Apr 16.

Cancer Genetics Group, IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto), Porto, Portugal.

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http://dx.doi.org/10.1371/journal.pgen.1007355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5919682PMC
April 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.

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

POLE somatic mutations in advanced colorectal cancer.

Cancer Med 2017 Dec 26;6(12):2966-2971. Epub 2017 Oct 26.

Department of Genetics, Portuguese Oncology Institute of Porto (IPO-Porto), Porto, Portugal.

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http://dx.doi.org/10.1002/cam4.1245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5727326PMC
December 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

Validation of a Next-Generation Sequencing Pipeline for the Molecular Diagnosis of Multiple Inherited Cancer Predisposing Syndromes.

J Mol Diagn 2017 07 18;19(4):502-513. Epub 2017 May 18.

Cancer Genetics Group, Portuguese Oncology Institute of Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto, Porto, Portugal; Department of Genetics, Portuguese Oncology Institute of Porto, Porto, Portugal; Biomedical Sciences Institute, University of Porto, Porto, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578173025
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http://dx.doi.org/10.1016/j.jmoldx.2017.05.001DOI Listing
July 2017

Qualitative and quantitative ultrasound assessment of gastric content.

Rev Assoc Med Bras (1992) 2017 Feb;63(2):134-141

Medical Student at Universidade de Ribeirão Preto, Scientific Initiation Grant from UFTM, Ribeirão Preto, SP, Brazil.

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http://dx.doi.org/10.1590/1806-9282.63.02.134DOI Listing
February 2017

Identification of 12 new susceptibility loci for different histotypes of epithelial ovarian cancer.

Authors:
Catherine M Phelan Karoline B Kuchenbaecker Jonathan P Tyrer Siddhartha P Kar Kate Lawrenson Stacey J Winham Joe Dennis Ailith Pirie Marjorie J Riggan Ganna Chornokur Madalene A Earp Paulo C Lyra Janet M Lee Simon Coetzee Jonathan Beesley Lesley McGuffog Penny Soucy Ed Dicks Andrew Lee Daniel Barrowdale Julie Lecarpentier Goska Leslie Cora M Aalfs Katja K H Aben Marcia Adams Julian Adlard Irene L Andrulis Hoda Anton-Culver Natalia Antonenkova Gerasimos Aravantinos Norbert Arnold Banu K Arun Brita Arver Jacopo Azzollini Judith Balmaña Susana N Banerjee Laure Barjhoux Rosa B Barkardottir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benitez Marina Bermisheva Marcus Q Bernardini Michael J Birrer Line Bjorge Amanda Black Kenneth Blankstein Marinus J Blok Clara Bodelon Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R Bradbury James D Brenton Carole Brewer Louise Brinton Per Broberg Angela Brooks-Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S Buys Trinidad Caldes Maria A Caligo Ian Campbell Rikki Cannioto Michael E Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen Chanock Xiao Qing Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K Chung Kathleen B M Claes Thomas Conner Linda S Cook Jackie Cook Daniel W Cramer Julie M Cunningham Aimee A D'Aloisio Mary B Daly Francesca Damiola Sakaeva Dina Damirovna Agnieszka Dansonka-Mieszkowska Fanny Dao Rosemarie Davidson Anna DeFazio Capucine Delnatte Kimberly F Doheny Orland Diez Yuan Chun Ding Jennifer Anne Doherty Susan M Domchek Cecilia M Dorfling Thilo Dörk Laure Dossus Mercedes Duran Matthias Dürst Bernd Dworniczak Diana Eccles Todd Edwards Ros Eeles Ursula Eilber Bent Ejlertsen Arif B Ekici Steve Ellis Mingajeva Elvira Kevin H Eng Christoph Engel D Gareth Evans Peter A Fasching Sarah Ferguson Sandra Fert Ferrer James M Flanagan Zachary C Fogarty Renée T Fortner Florentia Fostira William D Foulkes George Fountzilas Brooke L Fridley Tara M Friebel Eitan Friedman Debra Frost Patricia A Ganz Judy Garber María J García Vanesa Garcia-Barberan Andrea Gehrig Aleksandra Gentry-Maharaj Anne-Marie Gerdes Graham G Giles Rosalind Glasspool Gord Glendon Andrew K Godwin David E Goldgar Teodora Goranova Martin Gore Mark H Greene Jacek Gronwald Stephen Gruber Eric Hahnen Christopher A Haiman Niclas Håkansson Ute Hamann Thomas V O Hansen Patricia A Harrington Holly R Harris Jan Hauke Alexander Hein Alex Henderson Michelle A T Hildebrandt Peter Hillemanns Shirley Hodgson Claus K Høgdall Estrid Høgdall Frans B L Hogervorst Helene Holland Maartje J Hooning Karen Hosking Ruea-Yea Huang Peter J Hulick Jillian Hung David J Hunter David G Huntsman Tomasz Huzarski Evgeny N Imyanitov Claudine Isaacs Edwin S Iversen Louise Izatt Angel Izquierdo Anna Jakubowska Paul James Ramunas Janavicius Mats Jernetz Allan Jensen Uffe Birk Jensen Esther M John Sharon Johnatty Michael E Jones Päivi Kannisto Beth Y Karlan Anthony Karnezis Karin Kast Catherine J Kennedy Elza Khusnutdinova Lambertus A Kiemeney Johanna I Kiiski Sung-Won Kim Susanne K Kjaer Martin Köbel Reidun K Kopperud Torben A Kruse Jolanta Kupryjanczyk Ava Kwong Yael Laitman Diether Lambrechts Nerea Larrañaga Melissa C Larson Conxi Lazaro Nhu D Le Loic Le Marchand Jong Won Lee Shashikant B Lele Arto Leminen Dominique Leroux Jenny Lester Fabienne Lesueur Douglas A Levine Dong Liang Clemens Liebrich Jenna Lilyquist Loren Lipworth Jolanta Lissowska Karen H Lu Jan Lubinński Craig Luccarini Lene Lundvall Phuong L Mai Gustavo Mendoza-Fandiño Siranoush Manoukian Leon F A G Massuger Taymaa May Sylvie Mazoyer Jessica N McAlpine Valerie McGuire John R McLaughlin Iain McNeish Hanne Meijers-Heijboer Alfons Meindl Usha Menon Arjen R Mensenkamp Melissa A Merritt Roger L Milne Gillian Mitchell Francesmary Modugno Joanna Moes-Sosnowska Melissa Moffitt Marco Montagna Kirsten B Moysich Anna Marie Mulligan Jacob Musinsky Katherine L Nathanson Lotte Nedergaard Roberta B Ness Susan L Neuhausen Heli Nevanlinna Dieter Niederacher Robert L Nussbaum Kunle Odunsi Edith Olah Olufunmilayo I Olopade Håkan Olsson Curtis Olswold David M O'Malley Kai-Ren Ong N Charlotte Onland-Moret Nicholas Orr Sandra Orsulic Ana Osorio Domenico Palli Laura Papi Tjoung-Won Park-Simon James Paul Celeste L Pearce Inge Søkilde Pedersen Petra H M Peeters Bernard Peissel Ana Peixoto Tanja Pejovic Liisa M Pelttari Jennifer B Permuth Paolo Peterlongo Lidia Pezzani Georg Pfeiler Kelly-Anne Phillips Marion Piedmonte Malcolm C Pike Anna M Piskorz Samantha R Poblete Timea Pocza Elizabeth M Poole Bruce Poppe Mary E Porteous Fabienne Prieur Darya Prokofyeva Elizabeth Pugh Miquel Angel Pujana Pascal Pujol Paolo Radice Johanna Rantala Christine Rappaport-Fuerhauser Gad Rennert Kerstin Rhiem Patricia Rice Andrea Richardson Mark Robson Gustavo C Rodriguez Cristina Rodríguez-Antona Jane Romm Matti A Rookus Mary Anne Rossing Joseph H Rothstein Anja Rudolph Ingo B Runnebaum Helga B Salvesen Dale P Sandler Minouk J Schoemaker Leigha Senter V Wendy Setiawan Gianluca Severi Priyanka Sharma Tameka Shelford Nadeem Siddiqui Lucy E Side Weiva Sieh Christian F Singer Hagay Sobol Honglin Song Melissa C Southey Amanda B Spurdle Zsofia Stadler Doris Steinemann Dominique Stoppa-Lyonnet Lara E Sucheston-Campbell Grzegorz Sukiennicki Rebecca Sutphen Christian Sutter Anthony J Swerdlow Csilla I Szabo Lukasz Szafron Yen Y Tan Jack A Taylor Muy-Kheng Tea Manuel R Teixeira Soo-Hwang Teo Kathryn L Terry Pamela J Thompson Liv Cecilie Vestrheim Thomsen Darcy L Thull Laima Tihomirova Anna V Tinker Marc Tischkowitz Silvia Tognazzo Amanda Ewart Toland Alicia Tone Britton Trabert Ruth C Travis Antonia Trichopoulou Nadine Tung Shelley S Tworoger Anne M van Altena David Van Den Berg Annemarie H van der Hout Rob B van der Luijt Mattias Van Heetvelde Els Van Nieuwenhuysen Elizabeth J van Rensburg Adriaan Vanderstichele Raymonda Varon-Mateeva Ana Vega Digna Velez Edwards Ignace Vergote Robert A Vierkant Joseph Vijai Athanassios Vratimos Lisa Walker Christine Walsh Dorothea Wand Shan Wang-Gohrke Barbara Wappenschmidt Penelope M Webb Clarice R Weinberg Jeffrey N Weitzel Nicolas Wentzensen Alice S Whittemore Juul T Wijnen Lynne R Wilkens Alicja Wolk Michelle Woo Xifeng Wu Anna H Wu Hannah Yang Drakoulis Yannoukakos Argyrios Ziogas Kristin K Zorn Steven A Narod Douglas F Easton Christopher I Amos Joellen M Schildkraut Susan J Ramus Laura Ottini Marc T Goodman Sue K Park Linda E Kelemen Harvey A Risch Mads Thomassen Kenneth Offit Jacques Simard Rita Katharina Schmutzler Dennis Hazelett Alvaro N Monteiro Fergus J Couch Andrew Berchuck Georgia Chenevix-Trench Ellen L Goode Thomas A Sellers Simon A Gayther Antonis C Antoniou Paul D P Pharoah

Nat Genet 2017 May 27;49(5):680-691. Epub 2017 Mar 27.

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

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http://dx.doi.org/10.1038/ng.3826DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612337PMC
May 2017

Performance of Lynch syndrome predictive models in quantifying the likelihood of germline mutations in patients with abnormal MLH1 immunoexpression.

Fam Cancer 2017 01;16(1):73-81

Department of Genetics, Portuguese Oncology Institute of Porto (IPO Porto), Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.

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http://dx.doi.org/10.1007/s10689-016-9926-0DOI Listing
January 2017

Implementation of next-generation sequencing for molecular diagnosis of hereditary breast and ovarian cancer highlights its genetic heterogeneity.

Breast Cancer Res Treat 2016 Sep 23;159(2):245-56. Epub 2016 Aug 23.

Cancer Genetics Group, IPO Porto Research Center (CI-IPOP), Portuguese Oncology Institute of Porto (IPO Porto), Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.

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http://dx.doi.org/10.1007/s10549-016-3948-zDOI Listing
September 2016

Genome-Wide Meta-Analyses of Breast, Ovarian, and Prostate Cancer Association Studies Identify Multiple New Susceptibility Loci Shared by at Least Two Cancer Types.

Authors:
Siddhartha P Kar Jonathan Beesley Ali Amin Al Olama Kyriaki Michailidou Jonathan Tyrer ZSofia Kote-Jarai Kate Lawrenson Sara Lindstrom Susan J Ramus Deborah J Thompson Adam S Kibel Agnieszka Dansonka-Mieszkowska Agnieszka Michael Aida K Dieffenbach Aleksandra Gentry-Maharaj Alice S Whittemore Alicja Wolk Alvaro Monteiro Ana Peixoto Andrzej Kierzek Angela Cox Anja Rudolph Anna Gonzalez-Neira Anna H Wu Annika Lindblom Anthony Swerdlow Argyrios Ziogas Arif B Ekici Barbara Burwinkel Beth Y Karlan Børge G Nordestgaard Carl Blomqvist Catherine Phelan Catriona McLean Celeste Leigh Pearce Celine Vachon Cezary Cybulski Chavdar Slavov Christa Stegmaier Christiane Maier Christine B Ambrosone Claus K Høgdall Craig C Teerlink Daehee Kang Daniel C Tessier Daniel J Schaid Daniel O Stram Daniel W Cramer David E Neal Diana Eccles Dieter Flesch-Janys Digna R Velez Edwards Dominika Wokozorczyk Douglas A Levine Drakoulis Yannoukakos Elinor J Sawyer Elisa V Bandera Elizabeth M Poole Ellen L Goode Elza Khusnutdinova Estrid Høgdall Fengju Song Fiona Bruinsma Florian Heitz Francesmary Modugno Freddie C Hamdy Fredrik Wiklund Graham G Giles Håkan Olsson Hans Wildiers Hans-Ulrich Ulmer Hardev Pandha Harvey A Risch Hatef Darabi Helga B Salvesen Heli Nevanlinna Henrik Gronberg Hermann Brenner Hiltrud Brauch Hoda Anton-Culver Honglin Song Hui-Yi Lim Iain McNeish Ian Campbell Ignace Vergote Jacek Gronwald Jan Lubiński Janet L Stanford Javier Benítez Jennifer A Doherty Jennifer B Permuth Jenny Chang-Claude Jenny L Donovan Joe Dennis Joellen M Schildkraut Johanna Schleutker John L Hopper Jolanta Kupryjanczyk Jong Y Park Jonine Figueroa Judith A Clements Julia A Knight Julian Peto Julie M Cunningham Julio Pow-Sang Jyotsna Batra Kamila Czene Karen H Lu Kathleen Herkommer Kay-Tee Khaw Keitaro Matsuo Kenneth Muir Kenneth Offitt Kexin Chen Kirsten B Moysich Kristiina Aittomäki Kunle Odunsi Lambertus A Kiemeney Leon F A G Massuger Liesel M Fitzgerald Linda S Cook Lisa Cannon-Albright Maartje J Hooning Malcolm C Pike Manjeet K Bolla Manuel Luedeke Manuel R Teixeira Marc T Goodman Marjanka K Schmidt Marjorie Riggan Markus Aly Mary Anne Rossing Matthias W Beckmann Matthieu Moisse Maureen Sanderson Melissa C Southey Michael Jones Michael Lush Michelle A T Hildebrandt Ming-Feng Hou Minouk J Schoemaker Montserrat Garcia-Closas Natalia Bogdanova Nazneen Rahman Nhu D Le Nick Orr Nicolas Wentzensen Nora Pashayan Paolo Peterlongo Pascal Guénel Paul Brennan Paula Paulo Penelope M Webb Per Broberg Peter A Fasching Peter Devilee Qin Wang Qiuyin Cai Qiyuan Li Radka Kaneva Ralf Butzow Reidun Kristin Kopperud Rita K Schmutzler Robert A Stephenson Robert J MacInnis Robert N Hoover Robert Winqvist Roberta Ness Roger L Milne Ruth C Travis Sara Benlloch Sara H Olson Shannon K McDonnell Shelley S Tworoger Sofia Maia Sonja Berndt Soo Chin Lee Soo-Hwang Teo Stephen N Thibodeau Stig E Bojesen Susan M Gapstur Susanne Krüger Kjær Tanja Pejovic Teuvo L J Tammela Thilo Dörk Thomas Brüning Tiina Wahlfors Tim J Key Todd L Edwards Usha Menon Ute Hamann Vanio Mitev Veli-Matti Kosma Veronica Wendy Setiawan Vessela Kristensen Volker Arndt Walther Vogel Wei Zheng Weiva Sieh William J Blot Wojciech Kluzniak Xiao-Ou Shu Yu-Tang Gao Fredrick Schumacher Matthew L Freedman Andrew Berchuck Alison M Dunning Jacques Simard Christopher A Haiman Amanda Spurdle Thomas A Sellers David J Hunter Brian E Henderson Peter Kraft Stephen J Chanock Fergus J Couch Per Hall Simon A Gayther Douglas F Easton Georgia Chenevix-Trench Rosalind Eeles Paul D P Pharoah Diether Lambrechts

Cancer Discov 2016 09 17;6(9):1052-67. Epub 2016 Jul 17.

VIB Vesalius Research Center, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1158/2159-8290.CD-15-1227DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010513PMC
September 2016

Gingival biotype characterization--a study in a Portuguese sample.

Int J Esthet Dent 2015 ;10(4):534-46

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February 2016

BRCA2 Polymorphic Stop Codon K3326X and the Risk of Breast, Prostate, and Ovarian Cancers.

Authors:
Huong D Meeks Honglin Song Kyriaki Michailidou Manjeet K Bolla Joe Dennis Qin Wang Daniel Barrowdale Debra Frost Lesley McGuffog Steve Ellis Bingjian Feng Saundra S Buys John L Hopper Melissa C Southey Andrea Tesoriero Paul A James Fiona Bruinsma Ian G Campbell Annegien Broeks Marjanka K Schmidt Frans B L Hogervorst Matthias W Beckman Peter A Fasching Olivia Fletcher Nichola Johnson Elinor J Sawyer Elio Riboli Susana Banerjee Usha Menon Ian Tomlinson Barbara Burwinkel Ute Hamann Frederik Marme Anja Rudolph Ramunas Janavicius Laima Tihomirova Nadine Tung Judy Garber Daniel Cramer Kathryn L Terry Elizabeth M Poole Shelley S Tworoger Cecilia M Dorfling Elizabeth J van Rensburg Andrew K Godwin Pascal Guénel Thérèse Truong Dominique Stoppa-Lyonnet Francesca Damiola Sylvie Mazoyer Olga M Sinilnikova Claudine Isaacs Christine Maugard Stig E Bojesen Henrik Flyger Anne-Marie Gerdes Thomas V O Hansen Allen Jensen Susanne K Kjaer Claus Hogdall Estrid Hogdall Inge Sokilde Pedersen Mads Thomassen Javier Benitez Anna González-Neira Ana Osorio Miguel de la Hoya Pedro Perez Segura Orland Diez Conxi Lazaro Joan Brunet Hoda Anton-Culver Lee Eunjung Esther M John Susan L Neuhausen Yuan Chun Ding Danielle Castillo Jeffrey N Weitzel Patricia A Ganz Robert L Nussbaum Salina B Chan Beth Y Karlan Jenny Lester Anna Wu Simon Gayther Susan J Ramus Weiva Sieh Alice S Whittermore Alvaro N A Monteiro Catherine M Phelan Mary Beth Terry Marion Piedmonte Kenneth Offit Mark Robson Douglas Levine Kirsten B Moysich Rikki Cannioto Sara H Olson Mary B Daly Katherine L Nathanson Susan M Domchek Karen H Lu Dong Liang Michelle A T Hildebrant Roberta Ness Francesmary Modugno Leigh Pearce Marc T Goodman Pamela J Thompson Hermann Brenner Katja Butterbach Alfons Meindl Eric Hahnen Barbara Wappenschmidt Hiltrud Brauch Thomas Brüning Carl Blomqvist Sofia Khan Heli Nevanlinna Liisa M Pelttari Kristiina Aittomäki Ralf Butzow Natalia V Bogdanova Thilo Dörk Annika Lindblom Sara Margolin Johanna Rantala Veli-Matti Kosma Arto Mannermaa Diether Lambrechts Patrick Neven Kathleen B M Claes Tom Van Maerken Jenny Chang-Claude Dieter Flesch-Janys Florian Heitz Raymonda Varon-Mateeva Paolo Peterlongo Paolo Radice Alessandra Viel Monica Barile Bernard Peissel Siranoush Manoukian Marco Montagna Cristina Oliani Ana Peixoto Manuel R Teixeira Anita Collavoli Emily Hallberg Janet E Olson Ellen L Goode Steven N Hart Hermela Shimelis Julie M Cunningham Graham G Giles Roger L Milne Sue Healey Kathy Tucker Christopher A Haiman Brian E Henderson Mark S Goldberg Marc Tischkowitz Jacques Simard Penny Soucy Diana M Eccles Nhu Le Anne-Lise Borresen-Dale Vessela Kristensen Helga B Salvesen Line Bjorge Elisa V Bandera Harvey Risch Wei Zheng Alicia Beeghly-Fadiel Hui Cai Katri Pylkäs Robert A E M Tollenaar Ans M W van der Ouweland Irene L Andrulis Julia A Knight Steven Narod Peter Devilee Robert Winqvist Jonine Figueroa Mark H Greene Phuong L Mai Jennifer T Loud Montserrat García-Closas Minouk J Schoemaker Kamila Czene Hatef Darabi Iain McNeish Nadeem Siddiquil Rosalind Glasspool Ava Kwong Sue K Park Soo Hwang Teo Sook-Yee Yoon Keitaro Matsuo Satoyo Hosono Yin Ling Woo Yu-Tang Gao Lenka Foretova Christian F Singer Christine Rappaport-Feurhauser Eitan Friedman Yael Laitman Gad Rennert Evgeny N Imyanitov Peter J Hulick Olufunmilayo I Olopade Leigha Senter Edith Olah Jennifer A Doherty Joellen Schildkraut Linetta B Koppert Lambertus A Kiemeney Leon F A G Massuger Linda S Cook Tanja Pejovic Jingmei Li Ake Borg Anna Öfverholm Mary Anne Rossing Nicolas Wentzensen Karin Henriksson Angela Cox Simon S Cross Barbara J Pasini Mitul Shah Maria Kabisch Diana Torres Anna Jakubowska Jan Lubinski Jacek Gronwald Bjarni A Agnarsson Jolanta Kupryjanczyk Joanna Moes-Sosnowska Florentia Fostira Irene Konstantopoulou Susan Slager Michael Jones Antonis C Antoniou Andrew Berchuck Anthony Swerdlow Georgia Chenevix-Trench Alison M Dunning Paul D P Pharoah Per Hall Douglas F Easton Fergus J Couch Amanda B Spurdle David E Goldgar

The role of germline mutations in the BRCA1/2 and mismatch repair genes in men ascertained for early-onset and/or familial prostate cancer.

Fam Cancer 2016 Jan;15(1):111-21

Department of Genetics and Cancer Genetics Group - CI-IPOP, Portuguese Oncology Institute - Porto, Rua Dr. António Bernardino de Almeida, 4200-072, Porto, Portugal.

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http://dx.doi.org/10.1007/s10689-015-9832-xDOI Listing
January 2016

Target gene mutational pattern in Lynch syndrome colorectal carcinomas according to tumour location and germline mutation.

Br J Cancer 2015 Aug 6;113(4):686-92. Epub 2015 Aug 6.

1] Department of Genetics, Portuguese Oncology Institute, Rua Doutor António Bernardino Almeida, 4200-072 Porto, Portugal [2] Institute of Biomedical Sciences Abel Salazar (ICBAS), University of Porto, University of Porto, Largo Professor Abel Salazar, 4099-003 Porto, Portugal.

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http://dx.doi.org/10.1038/bjc.2015.281DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4647680PMC
August 2015

Identification of Two Novel HOXB13 Germline Mutations in Portuguese Prostate Cancer Patients.

PLoS One 2015 15;10(7):e0132728. Epub 2015 Jul 15.

Department of Genetics and Cancer Genetics Group-CI-IPOP, Portuguese Oncology Institute-Porto, Porto, Portugal; Biomedical Sciences Institute (ICBAS), University of Porto-Porto, Portugal.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0132728PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503425PMC
April 2016

Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

Authors:
Timothy R Rebbeck Nandita Mitra Fei Wan Olga M Sinilnikova Sue Healey Lesley McGuffog Sylvie Mazoyer Georgia Chenevix-Trench Douglas F Easton Antonis C Antoniou Katherine L Nathanson Yael Laitman Anya Kushnir Shani Paluch-Shimon Raanan Berger Jamal Zidan Eitan Friedman Hans Ehrencrona Marie Stenmark-Askmalm Zakaria Einbeigi Niklas Loman Katja Harbst Johanna Rantala Beatrice Melin Dezheng Huo Olufunmilayo I Olopade Joyce Seldon Patricia A Ganz Robert L Nussbaum Salina B Chan Kunle Odunsi Simon A Gayther Susan M Domchek Banu K Arun Karen H Lu Gillian Mitchell Beth Y Karlan Christine Walsh Jenny Lester Andrew K Godwin Harsh Pathak Eric Ross Mary B Daly Alice S Whittemore Esther M John Alexander Miron Mary Beth Terry Wendy K Chung David E Goldgar Saundra S Buys Ramunas Janavicius Laima Tihomirova Nadine Tung Cecilia M Dorfling Elizabeth J van Rensburg Linda Steele Susan L Neuhausen Yuan Chun Ding Bent Ejlertsen Anne-Marie Gerdes Thomas v O Hansen Teresa Ramón y Cajal Ana Osorio Javier Benitez Javier Godino Maria-Isabel Tejada Mercedes Duran Jeffrey N Weitzel Kristie A Bobolis Sharon R Sand Annette Fontaine Antonella Savarese Barbara Pasini Bernard Peissel Bernardo Bonanni Daniela Zaffaroni Francesca Vignolo-Lutati Giulietta Scuvera Giuseppe Giannini Loris Bernard Maurizio Genuardi Paolo Radice Riccardo Dolcetti Siranoush Manoukian Valeria Pensotti Viviana Gismondi Drakoulis Yannoukakos Florentia Fostira Judy Garber Diana Torres Muhammad Usman Rashid Ute Hamann Susan Peock Debra Frost Radka Platte D Gareth Evans Rosalind Eeles Rosemarie Davidson Diana Eccles Trevor Cole Jackie Cook Carole Brewer Shirley Hodgson Patrick J Morrison Lisa Walker Mary E Porteous M John Kennedy Louise Izatt Julian Adlard Alan Donaldson Steve Ellis Priyanka Sharma Rita Katharina Schmutzler Barbara Wappenschmidt Alexandra Becker Kerstin Rhiem Eric Hahnen Christoph Engel Alfons Meindl Stefanie Engert Nina Ditsch Norbert Arnold Hans Jörg Plendl Christoph Mundhenke Dieter Niederacher Markus Fleisch Christian Sutter C R Bartram Nicola Dikow Shan Wang-Gohrke Dorothea Gadzicki Doris Steinemann Karin Kast Marit Beer Raymonda Varon-Mateeva Andrea Gehrig Bernhard H Weber Dominique Stoppa-Lyonnet Olga M Sinilnikova Sylvie Mazoyer Claude Houdayer Muriel Belotti Marion Gauthier-Villars Francesca Damiola Nadia Boutry-Kryza Christine Lasset Hagay Sobol Jean-Philippe Peyrat Danièle Muller Jean-Pierre Fricker Marie-Agnès Collonge-Rame Isabelle Mortemousque Catherine Nogues Etienne Rouleau Claudine Isaacs Anne De Paepe Bruce Poppe Kathleen Claes Kim De Leeneer Marion Piedmonte Gustavo Rodriguez Katie Wakely John Boggess Stephanie V Blank Jack Basil Masoud Azodi Kelly-Anne Phillips Trinidad Caldes Miguel de la Hoya Atocha Romero Heli Nevanlinna Kristiina Aittomäki Annemarie H van der Hout Frans B L Hogervorst Senno Verhoef J Margriet Collée Caroline Seynaeve Jan C Oosterwijk Johannes J P Gille Juul T Wijnen Encarna B Gómez Garcia Carolien M Kets Margreet G E M Ausems Cora M Aalfs Peter Devilee Arjen R Mensenkamp Ava Kwong Edith Olah Janos Papp Orland Diez Conxi Lazaro Esther Darder Ignacio Blanco Mónica Salinas Anna Jakubowska Jan Lubinski Jacek Gronwald Katarzyna Jaworska-Bieniek Katarzyna Durda Grzegorz Sukiennicki Tomasz Huzarski Tomasz Byrski Cezary Cybulski Aleksandra Toloczko-Grabarek Elżbieta Złowocka-Perłowska Janusz Menkiszak Adalgeir Arason Rosa B Barkardottir Jacques Simard Rachel Laframboise Marco Montagna Simona Agata Elisa Alducci Ana Peixoto Manuel R Teixeira Amanda B Spurdle Min Hyuk Lee Sue K Park Sung-Won Kim Tara M Friebel Fergus J Couch Noralane M Lindor Vernon S Pankratz Lucia Guidugli Xianshu Wang Marc Tischkowitz Lenka Foretova Joseph Vijai Kenneth Offit Mark Robson Rohini Rau-Murthy Noah Kauff Anneliese Fink-Retter Christian F Singer Christine Rappaport Daphne Gschwantler-Kaulich Georg Pfeiler Muy-Kheng Tea Andreas Berger Mark H Greene Phuong L Mai Evgeny N Imyanitov Amanda Ewart Toland Leigha Senter Anders Bojesen Inge Sokilde Pedersen Anne-Bine Skytte Lone Sunde Mads Thomassen Sanne Traasdahl Moeller Torben A Kruse Uffe Birk Jensen Maria Adelaide Caligo Paolo Aretini Soo-Hwang Teo Christina G Selkirk Peter J Hulick Irene Andrulis

JAMA 2015 Apr;313(13):1347-61

Lunenfeld-Tanenbaum Research Institute, Mount Sinai Hospital and University of Toronto, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1001/jama.2014.5985DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4537700PMC
April 2015

Entomological impact and social participation in dengue control: a cluster randomized trial in Fortaleza, Brazil.

Trans R Soc Trop Med Hyg 2015 Feb;109(2):99-105

Special Programme for Research and Training in Tropical Diseases (TDR), World Health Organization, Geneva, Switzerland Liverpool School of Tropical Medicine, Liverpool, UK.

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http://dx.doi.org/10.1093/trstmh/tru187DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4299523PMC
February 2015

Uterus Didelphys with Obstructed Hemivagina and Ipsilateral Renal Agenesis (OHVIRA Syndrome).

JBRA Assist Reprod 2015 11 1;19(4):259-62. Epub 2015 Nov 1.

Gynecology and Obstetrics Department. Federal University of Paraná - Gynecology Endocrinology Sector, Curitiba, PR, Brazil.

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http://dx.doi.org/10.5935/1518-0557.20150049DOI Listing
November 2015

[Repeated fine-needle aspiration cytology for the diagnosis and follow-up of thyroid nodules].

Braz J Otorhinolaryngol 2014 Sep-Oct;80(5):422-7. Epub 2014 Jul 22.

Hospital São José, Joinville, SC, Brazil.

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http://dx.doi.org/10.1016/j.bjorl.2014.07.002DOI Listing
February 2015

The Brazilian founder mutation TP53 p.R337H is uncommon in Portuguese women diagnosed with breast cancer.

Breast J 2014 Sep-Oct;20(5):534-6. Epub 2014 Jul 23.

Genomic Medicine Laboratory, Experimental Research Centre, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil; Genetics Department, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, Brazil; Hospital Tacchini, Bento Gonçalves, Brazil.

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http://doi.wiley.com/10.1111/tbj.12308
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http://dx.doi.org/10.1111/tbj.12308DOI Listing
May 2015

Pathogenicity evaluation of BRCA1 and BRCA2 unclassified variants identified in Portuguese breast/ovarian cancer families.

J Mol Diagn 2014 May 5;16(3):324-34. Epub 2014 Mar 5.

Department of Genetics, Portuguese Oncology Institute, Porto, Portugal; Biomedical Sciences Institute (ICBAS), University of Porto, Porto, Portugal. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15251578140003
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http://dx.doi.org/10.1016/j.jmoldx.2014.01.005DOI Listing
May 2014

Genomic characterization of two large Alu-mediated rearrangements of the BRCA1 gene.

J Hum Genet 2013 Feb 6;58(2):78-83. Epub 2012 Dec 6.

Department of Genetics, Portuguese Oncology Institute, Rua Dr António Bernardino de Almeida, Porto, Portugal.

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http://dx.doi.org/10.1038/jhg.2012.137DOI Listing
February 2013

Intraepidermal epidermotropic metastatic melanoma: a clinical and histopathological mimicker of melanoma in situ occurring in multiplicity.

J Cutan Pathol 2011 Jun 24;38(6):514-20. Epub 2011 Feb 24.

Dermatology Department, Hospital Santo António dos Capuchos, Centro Hospitalar de Lisboa-Central, Lisbon, Portugal.

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http://doi.wiley.com/10.1111/j.1600-0560.2011.01694.x
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http://dx.doi.org/10.1111/j.1600-0560.2011.01694.xDOI Listing
June 2011

International distribution and age estimation of the Portuguese BRCA2 c.156_157insAlu founder mutation.

Breast Cancer Res Treat 2011 Jun 22;127(3):671-9. Epub 2010 Jul 22.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, Porto 4200-072, Portugal.

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http://dx.doi.org/10.1007/s10549-010-1036-3DOI Listing
June 2011

TP53 germline mutations in Portugal and genetic modifiers of age at cancer onset.

Fam Cancer 2009 26;8(4):383-90. Epub 2009 May 26.

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.

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http://dx.doi.org/10.1007/s10689-009-9251-yDOI Listing
January 2010

CSF1R copy number changes, point mutations, and RNA and protein overexpression in renal cell carcinomas.

Mod Pathol 2009 Jun 17;22(6):744-52. Epub 2009 Apr 17.

Department of Genetics, Portuguese Oncology Institute, Porto, Portugal.

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http://dx.doi.org/10.1038/modpathol.2009.43DOI Listing
June 2009

Molecular characterization of a rare MLL-AF4 (MLL-AFF1) fusion rearrangement in infant leukemia.

Cancer Genet Cytogenet 2007 Oct;178(1):61-4

Department of Genetics, Portuguese Oncology Institute, Rua Dr. António Bernardino de Almeida, 4200-072 Porto, Portugal.

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http://dx.doi.org/10.1016/j.cancergencyto.2007.05.023DOI Listing
October 2007

A new insight into fragile X syndrome among Basque population.

Am J Med Genet A 2004 Jul;128A(3):250-5

Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, University of the Basque Country, Spain.

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http://dx.doi.org/10.1002/ajmg.a.30116DOI Listing
July 2004