Eva Machackova

Eva Machackova

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Eva Machackova

Eva Machackova

Publications by authors named "Eva Machackova"

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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

Hypomorphic Missense Variants Confer Moderate Risks of Breast Cancer.

Authors:
Hermela Shimelis Romy L S Mesman Catharina Von Nicolai Asa Ehlen Lucia Guidugli Charlotte Martin Fabienne M G R Calléja Huong Meeks Emily Hallberg Jamie Hinton Jenna Lilyquist Chunling Hu Cora M Aalfs Kristiina Aittomäki Irene Andrulis Hoda Anton-Culver Volker Arndt Matthias W Beckmann Javier Benitez Natalia V Bogdanova Stig E Bojesen Manjeet K Bolla Anne-Lise Borresen-Dale Hiltrud Brauch Paul Brennan Hermann Brenner Annegien Broeks Barbara Brouwers Thomas Brüning Barbara Burwinkel Jenny Chang-Claude Georgia Chenevix-Trench Ching-Yu Cheng Ji-Yeob Choi J Margriet Collée Angela Cox Simon S Cross Kamila Czene Hatef Darabi Joe Dennis Thilo Dörk Isabel Dos-Santos-Silva Alison M Dunning Peter A Fasching Jonine Figueroa Henrik Flyger Montserrat García-Closas Graham G Giles Gord Glendon Pascal Guénel Christopher A Haiman Per Hall Ute Hamann Mikael Hartman Frans B Hogervorst Antoinette Hollestelle John L Hopper Hidemi Ito Anna Jakubowska Daehee Kang Veli-Matti Kosma Vessela Kristensen Kah-Nyin Lai Diether Lambrechts Loic Le Marchand Jingmei Li Annika Lindblom Artitaya Lophatananon Jan Lubinski Eva Machackova Arto Mannermaa Sara Margolin Frederik Marme Keitaro Matsuo Hui Miao Kyriaki Michailidou Roger L Milne Kenneth Muir Susan L Neuhausen Heli Nevanlinna Janet E Olson Curtis Olswold Jan J C Oosterwijk Ana Osorio Paolo Peterlongo Julian Peto Paul D P Pharoah Katri Pylkäs Paolo Radice Muhammad Usman Rashid Valerie Rhenius Anja Rudolph Suleeporn Sangrajrang Elinor J Sawyer Marjanka K Schmidt Minouk J Schoemaker Caroline Seynaeve Mitul Shah Chen-Yang Shen Martha Shrubsole Xiao-Ou Shu Susan Slager Melissa C Southey Daniel O Stram Anthony Swerdlow Soo H Teo Ian Tomlinson Diana Torres Thérèse Truong Christi J van Asperen Lizet E van der Kolk Qin Wang Robert Winqvist Anna H Wu Jyh-Cherng Yu Wei Zheng Ying Zheng Jennifer Leary Logan Walker Lenka Foretova Florentia Fostira Kathleen B M Claes Liliana Varesco Setareh Moghadasi Douglas F Easton Amanda Spurdle Peter Devilee Harry Vrieling Alvaro N A Monteiro David E Goldgar Aura Carreira Maaike P G Vreeswijk Fergus J Couch

Cancer Res 2017 06 10;77(11):2789-2799. Epub 2017 Mar 10.

Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.

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http://dx.doi.org/10.1158/0008-5472.CAN-16-2568DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508554PMC
June 2017

Fanconi anemia with biallelic FANCD1/BRCA2 mutations - Case report of a family with three affected children.

Eur J Med Genet 2016 Mar 2;59(3):152-7. Epub 2015 Dec 2.

Department of Pediatric Hematology and Oncology, Charles University in Prague, Second Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.

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http://dx.doi.org/10.1016/j.ejmg.2015.11.013DOI Listing
March 2016

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2.

Authors:
Valentina Silvestri Daniel Barrowdale Anna Marie Mulligan Susan L Neuhausen Stephen Fox Beth Y Karlan Gillian Mitchell Paul James Darcy L Thull Kristin K Zorn Natalie J Carter Katherine L Nathanson Susan M Domchek Timothy R Rebbeck Susan J Ramus Robert L Nussbaum Olufunmilayo I Olopade Johanna Rantala Sook-Yee Yoon Maria A Caligo Laura Spugnesi Anders Bojesen Inge Sokilde Pedersen Mads Thomassen Uffe Birk Jensen Amanda Ewart Toland Leigha Senter Irene L Andrulis Gord Glendon Peter J Hulick Evgeny N Imyanitov Mark H Greene Phuong L Mai Christian F Singer Christine Rappaport-Fuerhauser Gero Kramer Joseph Vijai Kenneth Offit Mark Robson Anne Lincoln Lauren Jacobs Eva Machackova Lenka Foretova Marie Navratilova Petra Vasickova Fergus J Couch Emily Hallberg Kathryn J Ruddy Priyanka Sharma Sung-Won Kim Manuel R Teixeira Pedro Pinto Marco Montagna Laura Matricardi Adalgeir Arason Oskar Th Johannsson Rosa B Barkardottir Anna Jakubowska Jan Lubinski Angel Izquierdo Miguel Angel Pujana Judith Balmaña Orland Diez Gabriella Ivady Janos Papp Edith Olah Ava Kwong Heli Nevanlinna Kristiina Aittomäki Pedro Perez Segura Trinidad Caldes Tom Van Maerken Bruce Poppe Kathleen B M Claes Claudine Isaacs Camille Elan Christine Lasset Dominique Stoppa-Lyonnet Laure Barjhoux Muriel Belotti Alfons Meindl Andrea Gehrig Christian Sutter Christoph Engel Dieter Niederacher Doris Steinemann Eric Hahnen Karin Kast Norbert Arnold Raymonda Varon-Mateeva Dorothea Wand Andrew K Godwin D Gareth Evans Debra Frost Jo Perkins Julian Adlard Louise Izatt Radka Platte Ros Eeles Steve Ellis Ute Hamann Judy Garber Florentia Fostira George Fountzilas Barbara Pasini Giuseppe Giannini Piera Rizzolo Antonio Russo Laura Cortesi Laura Papi Liliana Varesco Domenico Palli Ines Zanna Antonella Savarese Paolo Radice Siranoush Manoukian Bernard Peissel Monica Barile Bernardo Bonanni Alessandra Viel Valeria Pensotti Stefania Tommasi Paolo Peterlongo Jeffrey N Weitzel Ana Osorio Javier Benitez Lesley McGuffog Sue Healey Anne-Marie Gerdes Bent Ejlertsen Thomas V O Hansen Linda Steele Yuan Chun Ding Nadine Tung Ramunas Janavicius David E Goldgar Saundra S Buys Mary B Daly Anita Bane Mary Beth Terry Esther M John Melissa Southey Douglas F Easton Georgia Chenevix-Trench Antonis C Antoniou Laura Ottini

Breast Cancer Res 2016 Feb 9;18(1):15. Epub 2016 Feb 9.

Department of Molecular Medicine, Sapienza University of Rome, Viale Regina Elena, 324, 00161, Rome, Italy.

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http://dx.doi.org/10.1186/s13058-016-0671-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746828PMC
February 2016

The AIB1 gene polyglutamine repeat length polymorphism and the risk of breast cancer development.

J Cancer Res Clin Oncol 2011 Feb 27;137(2):331-8. Epub 2010 Apr 27.

Institute of Biochemistry and Experimental Oncology, First Faculty of Medicine, Charles University in Prague, U Nemocnice 5, 128 53 Prague 2, Czech Republic.

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http://dx.doi.org/10.1007/s00432-010-0889-5DOI Listing
February 2011

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

Hum Mutat 2004 Apr;23(4):397-8

Department of Cancer Epidemiology and Genetics, and Laboratory Medicine, Masaryk Memorial Cancer Institute, Zluty kopec 7, Brno, 656 53 Czech Republic.

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http://doi.wiley.com/10.1002/humu.9226
Publisher Site
http://dx.doi.org/10.1002/humu.9226DOI Listing
April 2004

Differentiating pathogenic mutations from polymorphic alterations in the splice sites of BRCA1 and BRCA2.

Genes Chromosomes Cancer 2003 Jul;37(3):314-20

Center for Medical Genetics, Ghent University Hospital, Belgium.

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http://dx.doi.org/10.1002/gcc.10221DOI Listing
July 2003