Rósa B. Barkardóttir

ORCID: 0000-0003-0629-2772
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Research Areas
  • BRCA gene mutations in cancer
  • Ovarian cancer diagnosis and treatment
  • Genetic Associations and Epidemiology
  • Genomic variations and chromosomal abnormalities
  • Cancer Genomics and Diagnostics
  • Genomics and Chromatin Dynamics
  • DNA Repair Mechanisms
  • Cancer-related Molecular Pathways
  • Genetic factors in colorectal cancer
  • Nutrition, Genetics, and Disease
  • Epigenetics and DNA Methylation
  • RNA modifications and cancer
  • Prostate Cancer Treatment and Research
  • Gene expression and cancer classification
  • RNA Research and Splicing
  • CRISPR and Genetic Engineering
  • Cancer-related molecular mechanisms research
  • Breast Cancer Treatment Studies
  • Molecular Biology Techniques and Applications
  • Prostate Cancer Diagnosis and Treatment
  • Genetics, Bioinformatics, and Biomedical Research
  • PARP inhibition in cancer therapy
  • Male Breast Health Studies
  • Ocular Oncology and Treatments
  • Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities

University of Iceland
2015-2024

National University Hospital of Iceland
2015-2024

Reykjavík University
2010-2022

Wellcome Sanger Institute
2017

Faculty (United Kingdom)
2016

Cancer Genetics (United States)
2000-2012

Lund University
2010-2012

Mount Sinai Hospital
2012

Mount Sinai Hospital
2012

Memorial Sloan Kettering Cancer Center
2012

SummaryThe contribution of BRCA1 and BRCA2 to inherited breast cancer was assessed by linkage mutation analysis in 237 families, each with at least four cases cancer, collected the Breast Cancer Linkage Consortium. Families were included without regard occurrence ovarian or other cancers. Overall, disease linked an estimated 52% 32% neither gene 16% (95% confidence interval [CI] 6%–28%), suggesting predisposition genes. The majority (81%) breast-ovarian families due BRCA1, most others (14%)...

10.1086/301749 article EN cc-by-nc-nd The American Journal of Human Genetics 1998-03-01

10.1038/ng2062 article EN Nature Genetics 2007-07-01

Background : We have previously demonstrated that breast cancers associated with inherited BRCA1 and BRCA2 gene mutations differ from each other in their histopathologic appearances of these types differs patients unselected for family history (i.e., sporadic cancers). now conducted a more detailed examination cytologic architectural features tumors. Methods Specimens tumor tissue (5-µm-thick sections) were examined independently by two pathologists, who unaware the case or control subject...

10.1093/jnci/90.15.1138 article EN JNCI Journal of the National Cancer Institute 1998-08-05
Þórunn Rafnar Patrick Sulem Simon Stacey Frank Geller Jūlı́us Guðmundsson and 80 more Ásgeir Sigurðsson Margret Jakobsdottir Hafdís T. Helgadóttir Steinunn Thorlacius Katja K.H. Aben Thórarinn Blöndal Thorgeir E. Thorgeirsson Guðmar Þorleifsson Kristleifur Kristjánsson Kristin Thorisdottir Rafn Ragnarsson Bárður Sigurgeirsson Halla Skúladóttir Tómas Guðbjartsson Helgi J. Ísaksson Guðmundur Einarsson Kristrún R. Benediktsdóttir Bjarni A. Agnarsson Karl Olafsson Anna Salvarsdottir Hjördis Bjarnason Margret Asgeirsdottir Kári Kristinsson Sigurborg Matthiasdottir Steinunn G Sveinsdottir Silvia Polidoro Veronica Höiom Rafael Botella‐Estrada Kari Hemminki Péter Rudnai D. Timothy Bishop Marcello Campagna Eliane Kellen Maurice P. Zeegers Petra de Verdier A. Pérez Dolores Isla María Vidal R. Andrés Berta Sáez Pablo Juberías Javier Banzo Sebastián Navarrete A. Trés Donghui Kan Annika Lindblom Eugen Gurzău Kvetoslava Koppová Femmie de Vegt Jack A. Schalken Erik H.F.M. van der Heijden Hans J.M. Smit René A. R. Termeer Egbert Oosterwijk Onno van Hooij Eduardo Nagore Stefano Porru Gunnar Steineck Johan Hansson Frank Buntinx William J. Catàlona Giuseppe Matullo Paolo Vineis Anne E. Kiltie José Mayordomo Rajiv Kumar Lambertus A. Kiemeney Michael L. Frigge Þorvaldur Jónsson Hafsteinn Saemundsson Rósa B. Barkardóttir Eiríkur Jónsson Steinn Jónsson Jón Ólafsson Jeffrey R. Gulcher Gísli Másson Daníel F. Guðbjartsson Augustine Kong Unnur Þorsteinsdóttir Kári Stéfansson

10.1038/ng.296 article EN Nature Genetics 2009-01-18
Nasim Mavaddat Daniel Barrowdale Irene L. Andrulis Susan M. Domchek Diana Eccles and 95 more Heli Nevanlinna Susan J. Ramus Amanda B. Spurdle Mark E. Robson Mark E. Sherman Anna Marie Mulligan Fergus J. Couch Christoph Engel Lesley McGuffog Sue Healey Olga M. Sinilnikova Melissa C. Southey Mary Beth Terry David E. Goldgar Frances P. O’Malley Esther M. John Ramūnas Janavičius Laima Tihomirova Thomas van Overeem Hansen Finn C. Nielsen Ana Osório Alexandra Stavropoulou Javier Benı́tez Siranoush Manoukian Bernard Peissel Monica Barile Sara Volorio Barbara Pasini Riccardo Dolcetti Anna Laura Putignano Laura Ottini Paolo Radice Ute Hamann Muhammad Usman Rashid Frans B.L. Hogervorst Mieke Kriege Rob B. van der Luijt Susan Peock Debra Frost D. Gareth Evans Carole Brewer Lisa Walker Mark T. Rogers Lucy Side Catherine Houghton JoEllen Weaver Andrew K. Godwin Rita K. Schmutzler Barbara Wappenschmidt Alfons Meindl Karin Kast Norbert Arnold Dieter Niederacher Christian Sutter Helmut Deißler Doroteha Gadzicki Sabine Preisler‐Adams Raymonda Varon-Mateeva Ines Schönbuchner Heidrun Gevensleben Dominique Stoppa‐Lyonnet Muriel Belotti Laure Barjhoux Claudine Isaacs Beth N. Peshkin Trinidad Caldés Miguel de la Hoya Carmen Cañadas Tuomas Heikkinen Päivi Heikkilä Kristiina Aittomäki Ignacio Blanco Conxi Lázaro Joan Brunet Bjarni A. Agnarsson Aðalgeir Arason Rósa B. Barkardóttir Martine Dumont Jacques Simard Marco Montagna Simona Agata Emma D’Andrea Max Yan Stephen B. Fox Timothy R. Rebbeck Wendy S. Rubinstein Nadine Tung Judy E. Garber Xianshu Wang Zachary Fredericksen V. Shane Pankratz Noralane M. Lindor Csilla I. Szabo Kenneth Offit Rita A. Sakr

Abstract Background: Previously, small studies have found that BRCA1 and BRCA2 breast tumors differ in their pathology. Analysis of larger datasets mutation carriers should allow further tumor characterization. Methods: We used data from 4,325 2,568 to analyze the pathology invasive breast, ovarian, contralateral cancers. Results: There was strong evidence proportion estrogen receptor (ER)-negative decreased with age at diagnosis among (P-trend = 1.2 × 10−5), but increased BRCA2, 6.8 10−6)....

10.1158/1055-9965.epi-11-0775 article EN Cancer Epidemiology Biomarkers & Prevention 2012-01-01
Catherine M. Phelan Karoline Kuchenbaecker Jonathan P. Tyrer Siddhartha Kar Kate Lawrenson and 95 more Stacey J. Winham Joe Dennis Ailith Pirie Marjorie J. Riggan Ganna Chornokur Madalene A. Earp Paulo C. Lyra Janet M. Lee Simon G. 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 Balmañà Susana Banerjee Laure Barjhoux Rósa B. Barkardóttir Yukie Bean Matthias W Beckmann Alicia Beeghly-Fadiel Javier Benı́tez Marina Bermisheva Marcus Q. Bernardini Michael J. Birrer Line Bjorge Amanda Black Kenneth B. Blankstein Marinus J. Blok Clara Bodelón Natalia Bogdanova Anders Bojesen Bernardo Bonanni Åke Borg Angela R. Bradbury James D. Brenton Carole Brewer Louise A. Brinton Per Broberg Angela Brooks‐Wilson Fiona Bruinsma Joan Brunet Bruno Buecher Ralf Butzow Saundra S. Buys Trinidad Caldés Maria A. Caligo Ian Campbell Rikki A. Cannioto Michael E. Carney Terence Cescon Salina B Chan Jenny Chang-Claude Stephen J. Chanock Xiaohong Chen Yoke-Eng Chiew Jocelyne Chiquette Wendy K. Chung Kathleen 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 Dı́ez Yuan Chun Ding Jennifer A. Doherty Susan M. Domchek Cecilia M Dorfling Thilo Dörk

10.1038/ng.3826 article EN Nature Genetics 2017-03-27
Fergus J. Couch Xianshu Wang Lesley McGuffog Andrew Lee Curtis Olswold and 95 more Karoline B. Kuchenbaecker Penny Soucy Zachary Fredericksen Daniel Barrowdale Joe Dennis Mia M. Gaudet Ed Dicks Matthew Kosel Sue Healey Olga M. Sinilnikova Adam F. Lee François Bacot Daniel Vincent Frans B. L. Hogervorst Susan Peock D Stoppa-Lyonnet Anna Jakubowska kConFab Investigators Paolo Radice Rita Katharina Schmutzler Susan M. Domchek Marion Piedmonte Christian F. Singer Eitan Friedman Mads Thomassen Thomas van Overeem Hansen Susan L. Neuhausen Csilla I. Szabo Ignacio Blanco Mark H. Greene Beth Y. Karlan Judy E. Garber Catherine M. Phelan Jeffrey N. Weitzel Marco Montagna Edith Olah Irene L. Andrulis Andrew K. Godwin Drakoulis Yannoukakos David E. Goldgar Trinidad Caldés Heli Nevanlinna Ana Osório Mary Beth Terry Mary B. Daly Elizabeth J. van Rensburg Ute Hamann Susan J. Ramus Amanda Ewart Toland Maria A. Caligo Olufunmilayo I. Olopade Nadine Tung Kathleen Claes Mary Beattie Melissa C. Southey Evgeny N. Imyanitov Marc Tischkowitz Ramūnas Janavičius Esther M. John Ava Kwong Orland Dı́ez Judith Balmañà Rósa B. Barkardóttir Banu K. Arun Gad Rennert Soo‐Hwang Teo Patricia A. Ganz Ian Campbell Annemarie H. van der Hout Carolien H. M. van Deurzen Caroline Seynaeve E. Gómez Flora E. van Leeuwen Hanne Meijers‐Heijboer Gilles Thomas Margreet G. E. M. Ausems Marinus J. Blok Marjolijn J. L. Ligtenberg Matti A. Rookus Peter Devilee Senno Verhoef Theo A.M. van Os Juul T. Wijnen D Frost Ian O. Ellis Elena Fineberg Radka Platte D. Gareth Evans Louise Izatt Rosalind A. Eeles Julian Adlard Diana Eccles Jackie Cook Carole Brewer Fiona Douglas

BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were diagnosed with 1,839 cancer), replication in an additional sample 2,646 carriers. We identified novel risk modifier locus at 1q32 for (rs2290854, P = 2.7×10−8, HR 1.14, 95% CI: 1.09–1.20). In addition, two loci: 17q21.31 (rs17631303, 1.4×10−8, 1.27, 1.17–1.38) 4q32.3 (rs4691139,...

10.1371/journal.pgen.1003212 article EN cc-by PLoS Genetics 2013-03-27
Roger L. Milne Karoline Kuchenbaecker Kyriaki Michailidou Jonathan Beesley Siddhartha Kar and 95 more Sara Lindström Shirley Hui Audrey Lemaçon Penny Soucy Joe Dennis Xia Jiang Asha Rostamianfar Hilary K. 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 Antonenkova Volker Arndt Norbert Arnold Kristan J. Aronson Bernd Auber Paul L. Auer Margreet G.E.M. Ausems Jacopo Azzollini François Bacot Judith Balmañà Monica Barile Laure Barjhoux Rósa B. Barkardóttir Myrto Barrdahl Daniel R. Barnes Daniel Barrowdale Caroline Baynes Matthias W. Beckmann Javier Benı́tez Marina Bermisheva Leslie Bernstein Yves‐Jean Bignon Kathleen R. Blazer Marinus J. Blok Carl Blomqvist William J. Blot Kristie Bobolis Bram Boeckx Natalia Bogdanova Anders Bojesen Stig E. Bojesen Bernardo Bonanni Anne‐Lise Børresen‐Dale Anikó Bozsik Angela R. Bradbury Judith S. Brand Hiltrud Brauch Hermann Brenner Brigitte Bressac–de Paillerets Carole Brewer Louise A. 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 Ángel Carracedo Brian D. Carter Jose E. Castelao Laurent Castéra Virginie Caux‐Moncoutier Salina Chan Jenny Chang‐Claude Stephen J. Chanock Xiaohong Chen Ting‐Yuan David Cheng Jocelyne Chiquette Hans Christiansen Kathleen Claes Christine L. Clarke Thomas Conner Don Conroy Jackie Cook

10.1038/ng.3785 article EN Nature Genetics 2017-10-23
Simon Stacey Patrick Sulem Áslaug Jónasdóttir Gísli Másson Jūlı́us Guðmundsson and 95 more Daníel F. Guðbjartsson Ólafur Þ. Magnússon Sigurjón A. Guðjónsson Bárður Sigurgeirsson Kristin Thorisdottir Rafn Ragnarsson Kristrún R. Benediktsdóttir Bjørn A. Nexø Anne Tjønneland Kim Overvad Péter Rudnai Eugen Gurzău Kvetoslava Koppová Kari Hemminki Cristina Corredera Victoria Fuentelsaz Pilar Grasa Sebastián Navarrete Fernando Fuertes María Dolores García-Prats Enrique Sanambrosio Angeles Panadero Ana De Juan Almudena García Fernando Rivera Dolores Planelles Vincent Soriano Celia Requena Katja K.H. Aben Michelle M. van Rossum R.G.H.M. Cremers Inge M. van Oort Dick-Johan van Spronsen Jack A. Schalken Wilbert H.M. Peters Brian T. Helfand Jenny Donovan Freddie C. Hamdy D. Badescu O. Codreanu Mariana Jinga Irma Eva Csiki Vali Constantinescu P Badea Ioan Nicolae Mateș Daniela Dinu Adrian Constantin Dana Mateș Sjöfn Kristjánsdóttir Bjarni A. Agnarsson Eiríkur Jónsson Rósa B. Barkardóttir Guðmundur Einarsson Fridbjörn Sigurdsson Páll Helgi Möller Tryggvi Stefánsson Trausti Valdimarsson Oskar T. Johannsson Helgi Sigurðsson Þorvaldur Jónsson Jón G. Jónasson Laufey Tryggvadóttír Terri Rice Helen M. Hansen Yuanyuan Xiao Daniel H. Lachance Brian Patrick O’Neill Matthew Kosel Paul A. Decker Guðmar Þorleifsson Hrefna Johannsdottir Hafdís T. Helgadóttir Ásgeir Sigurðsson Valgerður Steinthórsdóttir Annika Lindblom Robert S. Sandler Temitope O. Keku Karina Banasik Torben Jørgensen Daniel R. Witte Torben Hansen Oluf Pedersen Viorel Jinga David E. Neal William J. Catàlona Margaret Wrensch John K. Wiencke Robert B. Jenkins Eduardo Nagore Ulla Vogel Lambertus A. Kiemeney Rajiv Kumar José Mayordomo Jón Ólafsson Augustine Kong

10.1038/ng.926 article EN Nature Genetics 2011-09-25
Timothy R. Rebbeck Tara M. Friebel Eitan Friedman Ute Hamann Dezheng Huo and 95 more Ava Kwong Edith Oláh Olufunmilayo I. Olopade Ángela R. Solano Soo‐Hwang Teo Mads Thomassen Jeffrey N. Weitzel TL Chan Fergus J. Couch David E. Goldgar Torben A. Kruse Edenir Inêz Palmero Sue K. Park Diana Torres Elizabeth J. van Rensburg Lesley McGuffog Michael T. Parsons Goska Leslie Cora M. Aalfs Julio E. Abugattas Julian Adlard Simona Agata Kristiina Aittomäki Lesley Andrews Irene L. Andrulis Aðalgeir Arason Norbert Arnold Banu Arun Ella Asseryanis Leo Auerbach Jacopo Azzollini Judith Balmañà Monica Barile Rósa B. Barkardóttir Daniel Barrowdale Javier Benı́tez Andreas Berger Raanan Berger Amie Blanco Kathleen R. Blazer Marinus J. Blok Valérie Bonadona Bernardo Bonanni Angela R. Bradbury Carole Brewer Bruno Buecher Saundra S. Buys Trinidad Caldés Almuth Caliebe Maria A. Caligo Ian Campbell Sandrine M. Caputo Jocelyne Chiquette Wendy K. Chung Kathleen Claes J. Margriet Collée Jackie Cook Rosemarie Davidson Miguel de la Hoya Kim De Leeneer Antoine De Pauw Capucine Delnatte Orland Dı́ez Yuan Chun Ding Nina Ditsch Susan M. Domchek Cecilia M. Dorfling Carolina Velázquez Bernd Dworniczak Jacqueline Eason Douglas F. Easton Rosalind A. Eeles Hans Ehrencrona Bent Ejlertsen Christoph Engel Stefanie Engert D. Gareth Evans Laurence Faivre Lídia Feliubadaló Sandra Fert Ferrer Lenka Foretová Jeffrey M. Fowler Debra Frost Henrique C.R. Galvão Patricia A. Ganz Judy E. Garber Marion Gauthier‐Villars Andrea Gehrig Anne–Marie Gerdes Paul Gesta Giuseppe Giannini Sophie Giraud Gord Glendon Andrew K. Godwin Mark H. Greene

The prevalence and spectrum of germline mutations in BRCA1 BRCA2 have been reported single populations, with the majority reports focused on White Europe North America. Consortium Investigators Modifiers BRCA1/2 (CIMBA) has assembled data 18,435 families 11,351 ascertained from 69 centers 49 countries six continents. This study comprehensively describes characteristics 1,650 unique 1,731 deleterious (disease-associated) identified CIMBA database. We observed substantial variation mutation...

10.1002/humu.23406 article EN Human Mutation 2018-02-15
Laura Fachal Hugues Aschard Jonathan Beesley Daniel R. Barnes Jamie Allen and 95 more 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 Antonenkova Aðalgeir Arason Volker Arndt Kristan J. Aronson Banu K. Arun Bernd Auber Paul L. Auer Jacopo Azzollini Judith Balmañà Rósa B. Barkardóttir Daniel Barrowdale Alicia Beeghly‐Fadiel Javier Benı́tez Marina Bermisheva Katarzyna Białkowska Amie Blanco Carl Blomqvist William J. Blot Natalia Bogdanova Stig E. Bojesen Manjeet K. Bolla Bernardo Bonanni Åke Borg Kristin Bosse Hiltrud Brauch Hermann Brenner Ignacio Briceño 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 Claes Christine L. Clarke 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 Dı́ez Yuan Chun Ding Gillian S. Dite Susan M. Domchek Thilo Dörk Isabel dos‐Santos‐Silva Arnaud Droit Stéphane Dubois Martine Dumont M. Durán Lorraine Durcan Miriam Dwek Diana Eccles Christoph Engel Mikael Eriksson D. Gareth Evans Peter A. Fasching Olivia Fletcher Giuseppe Floris Henrik Flyger Lenka Foretová William D. Foulkes

10.1038/s41588-019-0537-1 article EN Nature Genetics 2020-01-01
Christopher A. Maxwell Javier Benítez Laia Gómez‐Baldó Ana Osório Núria Bonifaci and 95 more Ricardo Fernández‐Ramires Sylvain V. Costes Elisabet Guinó Helen Chen Gareth J. R. Evans Pooja Mohan Isabel Català Anna Petit Helena Aguilar Alberto Villanueva Àlvaro Aytés Jordi Serra-Musach Gad Rennert Flavio Lejbkowicz Paolo Peterlongo Siranoush Manoukian Bernard Peissel Carla B. Ripamonti Bernardo Bonanni Alessandra Viel Anna Allavena Loris Bernard Paolo Radice Eitan Friedman Bella Kaufman Yael Laitman Maya Dubrovsky Roni Milgrom Anna Jakubowska Cezary Cybulski Bohdan Górski Katarzyna Jaworska Katarzyna Durda Grzegorz Sukiennicki Jan Lubiński Yin Yao Shugart Susan M. Domchek Richard Letrero Barbara L. Weber Frans B.L. Hogervorst Matti A. Rookus J. Margriet Collée Peter Devilee Marjolijn J. L. Ligtenberg Rob B. van der Luijt Cora M. Aalfs Quinten Waisfisz Juul Wijnen C. E. P. van Roozendaal Douglas F. Easton Susan Peock Margaret Cook Clare Oliver Debra Frost Patricia Harrington D. Gareth Evans Fiona Lalloo Rosalind A. Eeles Louise Izatt Carol Chu Diana Eccles Fiona Douglas Carole Brewer Heli Nevanlinna Tuomas Heikkinen Fergus J. Couch Noralane M. Lindor Xianshu Wang Andrew K. Godwin Maria A. Caligo Grazia Lombardi Niklas Loman Per Karlsson Hans Ehrencrona Anna von Wachenfeldt Rósa B. Barkardóttir Ute Hamann Muhammad Usman Rashid Adriana Lasa Miguel de la Hoya Raquel Andrés Michael Schmitt Volker Assmann Kristen N. Stevens Kenneth Offit João Curado Hagen Tilgner Roderic Guigó Gemma Aiza Joan Brunet Joan Castellsagué Griselda Martrat Ander Urruticoechea Ignacio Blanco Laima Tihomirova

Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark breast carcinogenesis. In BRCA1 mutation carriers, accumulation stem progenitor cells in normal increased risk developing tumors basal-like type suggest that regulates stem/progenitor cell proliferation differentiation. However, the function this process its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving RHAMM polarity and, when perturbed,...

10.1371/journal.pbio.1001199 article EN cc-by PLoS Biology 2011-11-15

Breast cancer is a profoundly heterogeneous disease with respect to biologic and clinical behavior. Gene-expression profiling has been used dissect this complexity stratify tumors into intrinsic gene-expression subtypes, associated distinct biology, patient outcome, genomic alterations. Additionally, breast occurring in individuals germline BRCA1 or BRCA2 mutations typically fall subtypes. We applied global DNA copy number 359 tumors. All were classified according subtypes included cases...

10.1186/bcr2596 article EN cc-by Breast Cancer Research 2010-06-01

Significance The major portion of hereditary breast cancer still remains unexplained, and many susceptibility loci are yet to be found. Exome sequencing 24 high-risk familial BRCA1/2 -negative patients further genotyping a large sample set breast/ovarian cases controls was used discover previously unidentified alleles genes. A significant association FANCM nonsense mutation with cancer, especially triple-negative identifies as gene. Identification such risk is expected improve assessment for...

10.1073/pnas.1407909111 article EN cc-by Proceedings of the National Academy of Sciences 2014-10-06
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